CleftGeneDB-Search

Gene: MMP14

Basic information

Tag	Content
Uniprot ID	P50281; A8K5L0; Q6GSF3; Q92678;
Entrez ID	4323
Genbank protein ID	BAF84014.1; AAH64803.1; CAA62432.1; CAA58519.1; AAA83770.1; BAA05519.1; CAA88372.1; AAV40837.1;
Genbank nucleotide ID	NM_004995.3
Ensembl protein ID	ENSP00000308208
Ensembl nucleotide ID	ENSG00000157227
Gene name	Matrix metalloproteinase-14
Gene symbol	MMP14
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Endopeptidase that degrades various components of the extracellular matrix such as collagen. Activates progelatinase A. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similarity). May be involved in actin cytoskeleton reorganization by cleaving PTK7 (PubMed:20837484). Acts as a positive regulator of cell growth and migration via activation of MMP15. Involved in the formation of the fibrovascular tissues in association with pro-MMP2 (PubMed:12714657). Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiogenesis (PubMed:22330140).
Sequence	MSPAPRPPRC LLLPLLTLGT ALASLGSAQS SSFSPEAWLQ QYGYLPPGDL RTHTQRSPQS 60 LSAAIAAMQK FYGLQVTGKA DADTMKAMRR PRCGVPDKFG AEIKANVRRK RYAIQGLKWQ 120 HNEITFCIQN YTPKVGEYAT YEAIRKAFRV WESATPLRFR EVPYAYIREG HEKQADIMIF 180 FAEGFHGDST PFDGEGGFLA HAYFPGPNIG GDTHFDSAEP WTVRNEDLNG NDIFLVAVHE 240 LGHALGLEHS SDPSAIMAPF YQWMDTENFV LPDDDRRGIQ QLYGGESGFP TKMPPQPRTT 300 SRPSVPDKPK NPTYGPNICD GNFDTVAMLR GEMFVFKERW FWRVRNNQVM DGYPMPIGQF 360 WRGLPASINT AYERKDGKFV FFKGDKHWVF DEASLEPGYP KHIKELGRGL PTDKIDAALF 420 WMPNGKTYFF RGNKYYRFNE ELRAVDSEYP KNIKVWEGIP ESPRGSFMGS DEVFTYFYKG 480 NKYWKFNNQK LKVEPGYPKS ALRDWMGCPS GGRPDEGTEE ETEVIIIEVD EEGGGAVSAA 540 AVVLPVLLLL LVLAVGLAVF FFRRHGTPRR LLYCQRSLLD KV 582

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1BQQ
1BUV
2MQS
3C7X
3MA2
3X23
4P3C
4P3D
4QXU
5H0U
6CLZ
6CM1
1BQQ
2MQS
3C7X
3MA2
3X23
5H0U
6CLZ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MMP14	403823	F1PXM2		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MMP14		A0A452E6Q2		Capra hircus	Prediction	More>>
1:1 ortholog	MMP14	4323	P50281		Homo sapiens	Prediction	More>>
1:1 ortholog	Mmp14	17387	P53690	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MMP14	742887	H2Q7Z4		Pan troglodytes	Prediction	More>>
1:1 ortholog	MMP14		A0A287A740		Sus scrofa	Prediction	More>>
1:1 ortholog	Mmp14	81707	Q10739		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mmp14b	566945	B0R0I1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM282830	p.Ser2Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22836822C>A	NCI-TCGA Cosmic
rs547719073	p.Pro3Leu	missense variant	-	NC_000014.9:g.22836825C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1200274982	p.Pro3Ala	missense variant	-	NC_000014.9:g.22836824C>G	TOPMed
rs17882219	p.Ala4Thr	missense variant	-	NC_000014.9:g.22836827G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764392441	p.Ala4Val	missense variant	-	NC_000014.9:g.22836828C>T	ExAC,gnomAD
rs200576896	p.Pro5Arg	missense variant	-	NC_000014.9:g.22836831C>G	1000Genomes
rs17884647	p.Arg6Lys	missense variant	-	NC_000014.9:g.22836834G>A	-
rs1301121246	p.Pro7Leu	missense variant	-	NC_000014.9:g.22836837C>T	gnomAD
rs1042703	p.Pro8Thr	missense variant	-	NC_000014.9:g.22836839C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1042703	p.Pro8Ser	missense variant	-	NC_000014.9:g.22836839C>T	UniProt,dbSNP
VAR_021031	p.Pro8Ser	missense variant	-	NC_000014.9:g.22836839C>T	UniProt
rs1042703	p.Pro8Ser	missense variant	-	NC_000014.9:g.22836839C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg9ValPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.22836836C>-	NCI-TCGA
rs1253297091	p.Cys10Gly	missense variant	-	NC_000014.9:g.22836845T>G	gnomAD
NCI-TCGA novel	p.Cys10Arg	missense variant	-	NC_000014.9:g.22836845T>C	NCI-TCGA
rs1337771342	p.Leu11Ile	missense variant	-	NC_000014.9:g.22836848C>A	gnomAD
rs750574703	p.Pro14Ser	missense variant	-	NC_000014.9:g.22836857C>T	ExAC,TOPMed,gnomAD
rs587777039	p.Thr17Arg	missense variant	-	NC_000014.9:g.22836867C>G	-
rs587777039	p.Thr17Arg	missense variant	Winchester syndrome (WNCHRS)	NC_000014.9:g.22836867C>G	UniProt,dbSNP
VAR_070567	p.Thr17Arg	missense variant	Winchester syndrome (WNCHRS)	NC_000014.9:g.22836867C>G	UniProt
RCV000055657	p.Thr17Arg	missense variant	Winchester syndrome (WNCHRS)	NC_000014.9:g.22836867C>G	ClinVar
NCI-TCGA novel	p.Leu18Phe	missense variant	-	NC_000014.9:g.22836869C>T	NCI-TCGA
rs927591335	p.Ala21Val	missense variant	-	NC_000014.9:g.22836879C>T	TOPMed
rs780367986	p.Ala21Thr	missense variant	-	NC_000014.9:g.22836878G>A	ExAC,TOPMed,gnomAD
rs780367986	p.Ala21Ser	missense variant	-	NC_000014.9:g.22836878G>T	ExAC,TOPMed,gnomAD
rs779979676	p.Leu22Phe	missense variant	-	NC_000014.9:g.22836881C>T	TOPMed
rs749088113	p.Leu25Val	missense variant	-	NC_000014.9:g.22836890C>G	ExAC,TOPMed,gnomAD
rs749088113	p.Leu25Phe	missense variant	-	NC_000014.9:g.22836890C>T	ExAC,TOPMed,gnomAD
rs1394631840	p.Gly26Val	missense variant	-	NC_000014.9:g.22836894G>T	gnomAD
rs770957406	p.Ala28Thr	missense variant	-	NC_000014.9:g.22836899G>A	ExAC,gnomAD
rs759123112	p.Gln29Leu	missense variant	-	NC_000014.9:g.22836903A>T	ExAC,gnomAD
rs774130141	p.Gln29Glu	missense variant	-	NC_000014.9:g.22836902C>G	ExAC,gnomAD
rs982803572	p.Ser31Cys	missense variant	-	NC_000014.9:g.22836908A>T	TOPMed,gnomAD
rs1218291916	p.Ser32Thr	missense variant	-	NC_000014.9:g.22836912G>C	gnomAD
rs148673967	p.Glu36Lys	missense variant	-	NC_000014.9:g.22836923G>A	ESP,ExAC,TOPMed,gnomAD
rs139288377	p.Ala37Pro	missense variant	-	NC_000014.9:g.22841491G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1158551782	p.Gly43Asp	missense variant	-	NC_000014.9:g.22841510G>A	gnomAD
rs200689092	p.Tyr44Ter	stop gained	-	NC_000014.9:g.22841514C>A	ExAC,gnomAD
rs1467854019	p.Leu45Pro	missense variant	-	NC_000014.9:g.22841516T>C	gnomAD
rs200095510	p.Pro46Ser	missense variant	-	NC_000014.9:g.22841518C>T	1000Genomes,ExAC,gnomAD
rs780006498	p.Gly48Trp	missense variant	-	NC_000014.9:g.22841524G>T	ExAC,TOPMed,gnomAD
rs1378443349	p.Gly48Glu	missense variant	-	NC_000014.9:g.22841525G>A	gnomAD
rs780006498	p.Gly48Arg	missense variant	-	NC_000014.9:g.22841524G>C	ExAC,TOPMed,gnomAD
rs780006498	p.Gly48Arg	missense variant	-	NC_000014.9:g.22841524G>A	ExAC,TOPMed,gnomAD
rs1447695194	p.Asp49His	missense variant	-	NC_000014.9:g.22841527G>C	TOPMed
rs890078571	p.Arg51His	missense variant	-	NC_000014.9:g.22841534G>A	TOPMed,gnomAD
rs780626365	p.Arg51Cys	missense variant	-	NC_000014.9:g.22841533C>T	ExAC,gnomAD
rs1254492935	p.Thr52Ile	missense variant	-	NC_000014.9:g.22841537C>T	gnomAD
rs1456467056	p.Arg56Cys	missense variant	-	NC_000014.9:g.22841548C>T	TOPMed,gnomAD
rs772894872	p.Arg56His	missense variant	-	NC_000014.9:g.22841549G>A	ExAC,gnomAD
rs1254107907	p.Ser57Leu	missense variant	-	NC_000014.9:g.22841552C>T	gnomAD
rs1258084767	p.Pro58Ser	missense variant	-	NC_000014.9:g.22841554C>T	TOPMed
rs139231227	p.Ser62Leu	missense variant	-	NC_000014.9:g.22841567C>T	ESP,ExAC,gnomAD
rs554056813	p.Ala63Val	missense variant	-	NC_000014.9:g.22841570C>T	ExAC,TOPMed,gnomAD
rs1401887689	p.Ala64Val	missense variant	-	NC_000014.9:g.22841573C>T	gnomAD
rs1308214782	p.Ile65Val	missense variant	-	NC_000014.9:g.22841575A>G	TOPMed
rs775499277	p.Ala66Thr	missense variant	-	NC_000014.9:g.22841578G>A	ExAC,TOPMed,gnomAD
rs375707032	p.Ala66Gly	missense variant	-	NC_000014.9:g.22841579C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala67Val	missense variant	-	NC_000014.9:g.22841582C>T	NCI-TCGA
COSM469804	p.Gln69His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22841589G>T	NCI-TCGA Cosmic
rs762770552	p.Tyr72Cys	missense variant	-	NC_000014.9:g.22841597A>G	ExAC,TOPMed,gnomAD
rs145350786	p.Gly73Ser	missense variant	-	NC_000014.9:g.22841599G>A	ESP,ExAC,TOPMed,gnomAD
rs895159803	p.Leu74Phe	missense variant	-	NC_000014.9:g.22841604G>T	gnomAD
rs754846455	p.Val76Ile	missense variant	-	NC_000014.9:g.22841608G>A	ExAC,TOPMed,gnomAD
rs781106668	p.Gly78Asp	missense variant	-	NC_000014.9:g.22841615G>A	ExAC,gnomAD
rs752209666	p.Ala80Val	missense variant	-	NC_000014.9:g.22841621C>T	ExAC,TOPMed,gnomAD
rs971426762	p.Ala80Ser	missense variant	-	NC_000014.9:g.22841620G>T	gnomAD
rs752209666	p.Ala80Gly	missense variant	-	NC_000014.9:g.22841621C>G	ExAC,TOPMed,gnomAD
rs971426762	p.Ala80Thr	missense variant	-	NC_000014.9:g.22841620G>A	gnomAD
rs772653852	p.Ala82Gly	missense variant	-	NC_000014.9:g.22841627C>G	TOPMed
rs777317862	p.Ala82Ser	missense variant	-	NC_000014.9:g.22841626G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala87ProPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.22841913_22841923GGCCATGAGGC>-	NCI-TCGA
rs1317328829	p.Met88Thr	missense variant	-	NC_000014.9:g.22841918T>C	TOPMed,gnomAD
rs1261475157	p.Arg89Met	missense variant	-	NC_000014.9:g.22841921G>T	gnomAD
rs373247395	p.Arg89Gly	missense variant	-	NC_000014.9:g.22841920A>G	ESP,ExAC,TOPMed,gnomAD
rs778695115	p.Arg90His	missense variant	-	NC_000014.9:g.22841924G>A	ExAC,TOPMed,gnomAD
rs1192457800	p.Arg92Ter	stop gained	-	NC_000014.9:g.22841929C>T	gnomAD
rs1253266751	p.Cys93Tyr	missense variant	-	NC_000014.9:g.22841933G>A	gnomAD
rs772534496	p.Lys98Asn	missense variant	-	NC_000014.9:g.22841949G>C	ExAC,TOPMed,gnomAD
rs780457340	p.Gly100Ala	missense variant	-	NC_000014.9:g.22841954G>C	ExAC,TOPMed,gnomAD
rs1420223822	p.Glu102Lys	missense variant	-	NC_000014.9:g.22841959G>A	gnomAD
rs768632889	p.Lys104Asn	missense variant	-	NC_000014.9:g.22841967G>C	ExAC,gnomAD
rs776709320	p.Ala105Thr	missense variant	-	NC_000014.9:g.22841968G>A	ExAC,gnomAD
rs761880013	p.Ala105Val	missense variant	-	NC_000014.9:g.22841969C>T	ExAC,gnomAD
rs1381462096	p.Asn106Ser	missense variant	-	NC_000014.9:g.22841972A>G	gnomAD
rs773405446	p.Arg109Lys	missense variant	-	NC_000014.9:g.22841981G>A	ExAC,gnomAD
rs1284390443	p.Arg111His	missense variant	-	NC_000014.9:g.22841987G>A	gnomAD
rs759353850	p.Arg111Cys	missense variant	-	NC_000014.9:g.22841986C>T	ExAC,gnomAD
rs767289272	p.Tyr112Asp	missense variant	-	NC_000014.9:g.22841989T>G	ExAC,TOPMed,gnomAD
rs140660438	p.Ala113Thr	missense variant	-	NC_000014.9:g.22841992G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1172082260	p.Ile114Phe	missense variant	-	NC_000014.9:g.22841995A>T	TOPMed
rs1034441205	p.Leu117Ile	missense variant	-	NC_000014.9:g.22842004C>A	TOPMed,gnomAD
rs1254849829	p.His121Arg	missense variant	-	NC_000014.9:g.22842017A>G	gnomAD
rs763931970	p.Asn122Asp	missense variant	-	NC_000014.9:g.22842019A>G	ExAC,gnomAD
COSM954529	p.Asn122His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842019A>C	NCI-TCGA Cosmic
COSM1477452	p.Ile128Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842413C>G	NCI-TCGA Cosmic
rs1195235014	p.Asn130Ser	missense variant	-	NC_000014.9:g.22842418A>G	TOPMed
rs1244915738	p.Asn130Asp	missense variant	-	NC_000014.9:g.22842417A>G	TOPMed
NCI-TCGA novel	p.Thr132Ser	missense variant	-	NC_000014.9:g.22842423A>T	NCI-TCGA
rs764140468	p.Thr132Ser	missense variant	-	NC_000014.9:g.22842424C>G	ExAC,gnomAD
rs1401166926	p.Pro133Leu	missense variant	-	NC_000014.9:g.22842427C>T	gnomAD
rs202028793	p.Gly136Asp	missense variant	-	NC_000014.9:g.22842436G>A	ExAC,TOPMed,gnomAD
rs764791818	p.Glu137Lys	missense variant	-	NC_000014.9:g.22842438G>A	ExAC,gnomAD
rs1297447716	p.Thr140Pro	missense variant	-	NC_000014.9:g.22842447A>C	gnomAD
rs373465627	p.Glu142Lys	missense variant	-	NC_000014.9:g.22842453G>A	ExAC,TOPMed,gnomAD
rs373465627	p.Glu142Gln	missense variant	-	NC_000014.9:g.22842453G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala143Gly	missense variant	-	NC_000014.9:g.22842457C>G	NCI-TCGA
rs576108343	p.Ile144Thr	missense variant	-	NC_000014.9:g.22842460T>C	1000Genomes,ExAC,gnomAD
rs1030601511	p.Arg145Ser	missense variant	-	NC_000014.9:g.22842462C>A	gnomAD
rs954541590	p.Arg145Leu	missense variant	-	NC_000014.9:g.22842463G>T	TOPMed,gnomAD
rs1030601511	p.Arg145Cys	missense variant	-	NC_000014.9:g.22842462C>T	gnomAD
rs954541590	p.Arg145His	missense variant	-	NC_000014.9:g.22842463G>A	TOPMed,gnomAD
rs544049459	p.Ala147Val	missense variant	-	NC_000014.9:g.22842469C>T	1000Genomes,ExAC,gnomAD
rs748601843	p.Arg149Cys	missense variant	-	NC_000014.9:g.22842474C>T	ExAC,TOPMed,gnomAD
rs768334466	p.Arg149His	missense variant	-	NC_000014.9:g.22842475G>A	ExAC,TOPMed,gnomAD
rs189387225	p.Val150Met	missense variant	-	NC_000014.9:g.22842477G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs774412477	p.Glu152Lys	missense variant	-	NC_000014.9:g.22842483G>A	ExAC,gnomAD
rs768295586	p.Arg158His	missense variant	-	NC_000014.9:g.22842502G>A	ExAC,TOPMed,gnomAD
rs142628539	p.Arg158Cys	missense variant	-	NC_000014.9:g.22842501C>T	ESP,ExAC,TOPMed,gnomAD
rs776733080	p.Phe159Val	missense variant	-	NC_000014.9:g.22842504T>G	ExAC,gnomAD
rs761785718	p.Arg160Cys	missense variant	-	NC_000014.9:g.22842507C>T	ExAC,gnomAD
rs769434703	p.Arg160His	missense variant	-	NC_000014.9:g.22842508G>A	ExAC,TOPMed,gnomAD
rs762359516	p.Glu161Lys	missense variant	-	NC_000014.9:g.22842510G>A	ExAC,TOPMed,gnomAD
rs144960921	p.Ala165Val	missense variant	-	NC_000014.9:g.22842523C>T	ESP,ExAC,TOPMed,gnomAD
rs144960921	p.Ala165Asp	missense variant	-	NC_000014.9:g.22842523C>A	ESP,ExAC,TOPMed,gnomAD
rs192698502	p.Arg168His	missense variant	-	NC_000014.9:g.22842532G>A	1000Genomes,TOPMed,gnomAD
rs759963384	p.Arg168Cys	missense variant	-	NC_000014.9:g.22842531C>T	ExAC,gnomAD
rs1276557075	p.Glu169Lys	missense variant	-	NC_000014.9:g.22842534G>A	TOPMed
rs753203880	p.His171Arg	missense variant	-	NC_000014.9:g.22842541A>G	ExAC,gnomAD
rs756678996	p.Glu172Lys	missense variant	-	NC_000014.9:g.22842543G>A	ExAC,gnomAD
COSM6075578	p.Glu172Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842543G>C	NCI-TCGA Cosmic
rs1047287901	p.Gln174Glu	missense variant	-	NC_000014.9:g.22842549C>G	TOPMed
NCI-TCGA novel	p.Ala175Val	missense variant	-	NC_000014.9:g.22842553C>T	NCI-TCGA
rs1485216160	p.Asp176Val	missense variant	-	NC_000014.9:g.22842556A>T	gnomAD
rs145801508	p.Asp176Asn	missense variant	-	NC_000014.9:g.22842555G>A	ESP,ExAC,TOPMed,gnomAD
rs1191735486	p.Met178Ile	missense variant	-	NC_000014.9:g.22842563G>A	gnomAD
rs1489419661	p.Met178Val	missense variant	-	NC_000014.9:g.22842561A>G	gnomAD
rs1423046246	p.Phe180Leu	missense variant	-	NC_000014.9:g.22842569C>A	gnomAD
COSM4049906	p.Ala182Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842574C>T	NCI-TCGA Cosmic
rs757252435	p.Glu183Lys	missense variant	-	NC_000014.9:g.22842576G>A	ExAC,TOPMed,gnomAD
rs1381793688	p.Glu183Gly	missense variant	-	NC_000014.9:g.22842577A>G	TOPMed
rs779226971	p.Gly184Arg	missense variant	-	NC_000014.9:g.22842579G>C	ExAC,gnomAD
NCI-TCGA novel	p.His186Gln	missense variant	-	NC_000014.9:g.22842587T>A	NCI-TCGA
rs1362822672	p.Asp188Asn	missense variant	-	NC_000014.9:g.22842591G>A	gnomAD
rs1401507378	p.Thr190Met	missense variant	-	NC_000014.9:g.22842598C>T	TOPMed,gnomAD
rs1448053873	p.Gly196Ser	missense variant	-	NC_000014.9:g.22842615G>A	gnomAD
rs1354231014	p.Gly197Cys	missense variant	-	NC_000014.9:g.22842618G>T	TOPMed,gnomAD
rs1354231014	p.Gly197Ser	missense variant	-	NC_000014.9:g.22842618G>A	TOPMed,gnomAD
rs1168437251	p.Leu199Pro	missense variant	-	NC_000014.9:g.22842625T>C	TOPMed
NCI-TCGA novel	p.Phe204Ile	missense variant	-	NC_000014.9:g.22842639T>A	NCI-TCGA
COSM697504	p.Gly206Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842645G>T	NCI-TCGA Cosmic
rs762568699	p.Asn208Ser	missense variant	-	NC_000014.9:g.22842652A>G	ExAC,TOPMed,gnomAD
rs559917438	p.Ile209Val	missense variant	-	NC_000014.9:g.22842654A>G	1000Genomes
rs770311145	p.Ile209Thr	missense variant	-	NC_000014.9:g.22842655T>C	ExAC,gnomAD
rs1443078179	p.Thr213Asn	missense variant	-	NC_000014.9:g.22842667C>A	gnomAD
rs759039982	p.His214Gln	missense variant	-	NC_000014.9:g.22842671C>G	ExAC,TOPMed,gnomAD
rs774062344	p.His214Tyr	missense variant	-	NC_000014.9:g.22842669C>T	ExAC,gnomAD
rs1444614149	p.Phe215Tyr	missense variant	-	NC_000014.9:g.22842673T>A	gnomAD
rs764623811	p.Pro220Ala	missense variant	-	NC_000014.9:g.22842687C>G	ExAC,gnomAD
rs764623811	p.Pro220Thr	missense variant	-	NC_000014.9:g.22842687C>A	ExAC,gnomAD
rs377219142	p.Thr222Ala	missense variant	-	NC_000014.9:g.22842693A>G	ESP,ExAC,TOPMed
rs757380549	p.Thr222Ile	missense variant	-	NC_000014.9:g.22842694C>T	ExAC,gnomAD
rs1335674737	p.Val223Ile	missense variant	-	NC_000014.9:g.22842696G>A	TOPMed,gnomAD
COSM3814502	p.Asp227Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842708G>A	NCI-TCGA Cosmic
rs369810660	p.Leu228Arg	missense variant	-	NC_000014.9:g.22842712T>G	ESP,ExAC,TOPMed,gnomAD
rs17884841	p.Ile233Val	missense variant	-	NC_000014.9:g.22843265A>G	UniProt,dbSNP
VAR_021032	p.Ile233Val	missense variant	-	NC_000014.9:g.22843265A>G	UniProt
rs17884841	p.Ile233Val	missense variant	-	NC_000014.9:g.22843265A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766751794	p.Val238Gly	missense variant	-	NC_000014.9:g.22843281T>G	ExAC,gnomAD
rs200519097	p.Val238Leu	missense variant	-	NC_000014.9:g.22843280G>T	ExAC,TOPMed,gnomAD
rs1322938853	p.His239Asp	missense variant	-	NC_000014.9:g.22843283C>G	gnomAD
rs1456860180	p.Gly242Asp	missense variant	-	NC_000014.9:g.22843293G>A	gnomAD
rs1210218998	p.Ala244Thr	missense variant	-	NC_000014.9:g.22843298G>A	TOPMed
rs143061668	p.Glu248Lys	missense variant	-	NC_000014.9:g.22843310G>A	ESP,ExAC,TOPMed,gnomAD
rs1479903613	p.Ser251Gly	missense variant	-	NC_000014.9:g.22843319A>G	gnomAD
COSM4931471	p.Ser251Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843320G>T	NCI-TCGA Cosmic
COSM416241	p.Asp252Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843322G>T	NCI-TCGA Cosmic
rs1310121651	p.Pro253Ser	missense variant	-	NC_000014.9:g.22843325C>T	TOPMed
rs1425125078	p.Ser254Leu	missense variant	-	NC_000014.9:g.22843329C>T	TOPMed,gnomAD
rs372126942	p.Ile256Val	missense variant	-	NC_000014.9:g.22843334A>G	ESP,ExAC,gnomAD
rs771529027	p.Met257Lys	missense variant	-	NC_000014.9:g.22843338T>A	ExAC
COSM954531	p.Ala258Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843340G>T	NCI-TCGA Cosmic
rs1388240533	p.Gln262Arg	missense variant	-	NC_000014.9:g.22843353A>G	TOPMed,gnomAD
rs911878094	p.Trp263Arg	missense variant	-	NC_000014.9:g.22843355T>A	gnomAD
rs943286775	p.Trp263Ter	stop gained	-	NC_000014.9:g.22843357G>A	gnomAD
rs1420662677	p.Met264Arg	missense variant	-	NC_000014.9:g.22843359T>G	gnomAD
COSM272953	p.Met264Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843358A>G	NCI-TCGA Cosmic
rs374632825	p.Thr266Met	missense variant	-	NC_000014.9:g.22843365C>T	ESP,TOPMed,gnomAD
rs1248454372	p.Pro272Leu	missense variant	-	NC_000014.9:g.22843383C>T	TOPMed
rs769069897	p.Pro272Ser	missense variant	-	NC_000014.9:g.22843382C>T	ExAC,TOPMed,gnomAD
rs769069897	p.Pro272Ala	missense variant	-	NC_000014.9:g.22843382C>G	ExAC,TOPMed,gnomAD
rs1042704	p.Asp273Asn	missense variant	-	NC_000014.9:g.22843385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1042704	p.Asp273Asn	missense variant	-	NC_000014.9:g.22843385G>A	UniProt,dbSNP
VAR_021033	p.Asp273Asn	missense variant	-	NC_000014.9:g.22843385G>A	UniProt
rs765715939	p.Asp273Gly	missense variant	-	NC_000014.9:g.22843386A>G	ExAC,TOPMed,gnomAD
rs765715939	p.Asp273Val	missense variant	-	NC_000014.9:g.22843386A>T	ExAC,TOPMed,gnomAD
rs1042704	p.Asp273His	missense variant	-	NC_000014.9:g.22843385G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1268609388	p.Asp275Glu	missense variant	-	NC_000014.9:g.22843393C>A	gnomAD
rs746743029	p.Arg276His	missense variant	-	NC_000014.9:g.22843395G>A	ExAC,TOPMed,gnomAD
rs145239346	p.Arg276Cys	missense variant	-	NC_000014.9:g.22843394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142651327	p.Arg277Gln	missense variant	-	NC_000014.9:g.22843398G>A	ESP,ExAC,TOPMed,gnomAD
rs137906578	p.Arg277Trp	missense variant	-	NC_000014.9:g.22843397C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1368918391	p.Gly278Val	missense variant	-	NC_000014.9:g.22843401G>T	gnomAD
rs753622411	p.Leu282Ile	missense variant	-	NC_000014.9:g.22843412C>A	ExAC,TOPMed,gnomAD
COSM4049908	p.Tyr283Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843416A>G	NCI-TCGA Cosmic
rs1383570601	p.Gly284Ala	missense variant	-	NC_000014.9:g.22843710G>C	TOPMed
rs1181687314	p.Gly285Cys	missense variant	-	NC_000014.9:g.22843712G>T	gnomAD
rs774979980	p.Glu286Lys	missense variant	-	NC_000014.9:g.22843715G>A	ExAC,gnomAD
rs1180337400	p.Ser287Leu	missense variant	-	NC_000014.9:g.22843719C>T	TOPMed,gnomAD
rs138573365	p.Gly288Glu	missense variant	-	NC_000014.9:g.22843722G>A	ESP,ExAC,TOPMed,gnomAD
rs759559465	p.Gly288Arg	missense variant	-	NC_000014.9:g.22843721G>C	ExAC,TOPMed,gnomAD
rs138573365	p.Gly288Val	missense variant	-	NC_000014.9:g.22843722G>T	ESP,ExAC,TOPMed,gnomAD
rs138573365	p.Gly288Ala	missense variant	-	NC_000014.9:g.22843722G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe289Ser	missense variant	-	NC_000014.9:g.22843725T>C	NCI-TCGA
rs1056628989	p.Pro290Ser	missense variant	-	NC_000014.9:g.22843727C>T	TOPMed
COSM4049909	p.Pro290Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843728C>T	NCI-TCGA Cosmic
rs764286622	p.Thr291Asn	missense variant	-	NC_000014.9:g.22843731C>A	ExAC
rs1222147807	p.Lys292Thr	missense variant	-	NC_000014.9:g.22843734A>C	TOPMed
rs762703541	p.Met293Ile	missense variant	-	NC_000014.9:g.22843738G>A	ExAC,gnomAD
rs1401750306	p.Pro294His	missense variant	-	NC_000014.9:g.22843740C>A	TOPMed,gnomAD
rs755082954	p.Pro294Ser	missense variant	-	NC_000014.9:g.22843739C>T	ExAC,TOPMed,gnomAD
rs1240321412	p.Pro297Thr	missense variant	-	NC_000014.9:g.22843748C>A	TOPMed
rs754475004	p.Arg298Ser	missense variant	-	NC_000014.9:g.22843753G>C	ExAC,gnomAD
rs974774546	p.Ser301Phe	missense variant	-	NC_000014.9:g.22843761C>T	gnomAD
rs17884719	p.Arg302Trp	missense variant	-	NC_000014.9:g.22843763C>T	ESP,ExAC,TOPMed,gnomAD
rs144706082	p.Arg302Gln	missense variant	-	NC_000014.9:g.22843764G>A	ESP,ExAC,TOPMed,gnomAD
rs17884719	p.Arg302Trp	missense variant	-	NC_000014.9:g.22843763C>T	UniProt,dbSNP
VAR_021034	p.Arg302Trp	missense variant	-	NC_000014.9:g.22843763C>T	UniProt
rs1220846314	p.Asp307Gly	missense variant	-	NC_000014.9:g.22843779A>G	TOPMed
rs1444772485	p.Asn311Ser	missense variant	-	NC_000014.9:g.22843791A>G	gnomAD
NCI-TCGA novel	p.Pro312His	missense variant	-	NC_000014.9:g.22843794C>A	NCI-TCGA
rs1302334142	p.Thr313Ile	missense variant	-	NC_000014.9:g.22843797C>T	TOPMed
rs1261951097	p.Tyr314Asn	missense variant	-	NC_000014.9:g.22843799T>A	gnomAD
rs1011977295	p.Tyr314Cys	missense variant	-	NC_000014.9:g.22843800A>G	TOPMed,gnomAD
rs143934919	p.Asp320Asn	missense variant	-	NC_000014.9:g.22843817G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746320385	p.Gly321Arg	missense variant	-	NC_000014.9:g.22843820G>A	ExAC,TOPMed,gnomAD
rs772058764	p.Phe323Leu	missense variant	-	NC_000014.9:g.22843826T>C	ExAC,gnomAD
rs747054970	p.Val326Met	missense variant	-	NC_000014.9:g.22843835G>A	ExAC,TOPMed,gnomAD
rs768905770	p.Ala327Val	missense variant	-	NC_000014.9:g.22843839C>T	ExAC,gnomAD
rs535492372	p.Met328Ile	missense variant	-	NC_000014.9:g.22843843G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu329Ile	missense variant	-	NC_000014.9:g.22843844C>A	NCI-TCGA
rs762756687	p.Arg330Gln	missense variant	-	NC_000014.9:g.22843848G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly331Trp	missense variant	-	NC_000014.9:g.22843850G>T	NCI-TCGA
rs766119742	p.Gly331Val	missense variant	-	NC_000014.9:g.22843851G>T	ExAC,gnomAD
rs774156868	p.Val335Asp	missense variant	-	NC_000014.9:g.22843863T>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe336Leu	missense variant	-	NC_000014.9:g.22843865T>C	NCI-TCGA
rs1014624640	p.Lys337Arg	missense variant	-	NC_000014.9:g.22843869A>G	TOPMed
rs763632539	p.Arg339Cys	missense variant	-	NC_000014.9:g.22844374C>T	ExAC,gnomAD
rs140740223	p.Arg339His	missense variant	-	NC_000014.9:g.22844375G>A	ESP,ExAC,gnomAD
rs140740223	p.Arg339Leu	missense variant	-	NC_000014.9:g.22844375G>T	ESP,ExAC,gnomAD
rs763632539	p.Arg339Gly	missense variant	-	NC_000014.9:g.22844374C>G	ExAC,gnomAD
rs367667276	p.Arg343Leu	missense variant	-	NC_000014.9:g.22844387G>T	ESP,ExAC,TOPMed,gnomAD
rs774971754	p.Arg343Gly	missense variant	-	NC_000014.9:g.22844386C>G	ExAC,TOPMed,gnomAD
rs774971754	p.Arg343Trp	missense variant	-	NC_000014.9:g.22844386C>T	ExAC,TOPMed,gnomAD
rs367667276	p.Arg343Gln	missense variant	-	NC_000014.9:g.22844387G>A	ESP,ExAC,TOPMed,gnomAD
rs1162543120	p.Val344Met	missense variant	-	NC_000014.9:g.22844389G>A	gnomAD
rs935871908	p.Val344Gly	missense variant	-	NC_000014.9:g.22844390T>G	gnomAD
rs151330457	p.Arg345Thr	missense variant	-	NC_000014.9:g.22844393G>C	ESP,ExAC,TOPMed,gnomAD
rs1315673455	p.Asn346Ser	missense variant	-	NC_000014.9:g.22844396A>G	gnomAD
COSM954533	p.Asn346Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22844395A>G	NCI-TCGA Cosmic
rs371549086	p.Met350Ile	missense variant	-	NC_000014.9:g.22844409G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755052235	p.Gly352Arg	missense variant	-	NC_000014.9:g.22844413G>A	ExAC,gnomAD
rs781186873	p.Pro354Leu	missense variant	-	NC_000014.9:g.22844420C>T	ExAC,TOPMed,gnomAD
rs748209240	p.Met355Val	missense variant	-	NC_000014.9:g.22844422A>G	ExAC,gnomAD
rs17880989	p.Met355Ile	missense variant	-	NC_000014.9:g.22844424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1353167737	p.Pro356Leu	missense variant	-	NC_000014.9:g.22844426C>T	TOPMed,gnomAD
rs777838822	p.Pro356Ser	missense variant	-	NC_000014.9:g.22844425C>T	ExAC,TOPMed,gnomAD
rs777838822	p.Pro356Ala	missense variant	-	NC_000014.9:g.22844425C>G	ExAC,TOPMed,gnomAD
rs771727412	p.Ile357Thr	missense variant	-	NC_000014.9:g.22844429T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly358Arg	missense variant	-	NC_000014.9:g.22844431G>C	NCI-TCGA
rs1315172981	p.Gln359His	missense variant	-	NC_000014.9:g.22844436G>C	TOPMed
rs775551564	p.Arg362Trp	missense variant	-	NC_000014.9:g.22844443C>T	ExAC,gnomAD
rs535348638	p.Arg362Gln	missense variant	-	NC_000014.9:g.22844444G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1241775125	p.Gly363Ser	missense variant	-	NC_000014.9:g.22844446G>A	gnomAD
COSM3495031	p.Pro365Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22844453C>G	NCI-TCGA Cosmic
rs150036710	p.Ala366Val	missense variant	-	NC_000014.9:g.22844456C>T	ESP,ExAC,TOPMed,gnomAD
rs764989341	p.Ser367Pro	missense variant	-	NC_000014.9:g.22844458T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser367Ala	missense variant	-	NC_000014.9:g.22844458T>G	NCI-TCGA
rs969162971	p.Asn369His	missense variant	-	NC_000014.9:g.22844464A>C	TOPMed
NCI-TCGA novel	p.Tyr372Ter	stop gained	-	NC_000014.9:g.22844475C>G	NCI-TCGA
NCI-TCGA novel	p.Glu373Asp	missense variant	-	NC_000014.9:g.22844478G>C	NCI-TCGA
rs766583270	p.Glu373Lys	missense variant	-	NC_000014.9:g.22844476G>A	ExAC,TOPMed,gnomAD
rs1338119090	p.Arg374Lys	missense variant	-	NC_000014.9:g.22844480G>A	TOPMed,gnomAD
rs755533831	p.Lys375Asn	missense variant	-	NC_000014.9:g.22844484G>T	ExAC,TOPMed
rs372860898	p.Asp376Glu	missense variant	-	NC_000014.9:g.22844487T>A	ESP,ExAC,gnomAD
rs749406594	p.Val380Ile	missense variant	-	NC_000014.9:g.22844497G>A	ExAC,gnomAD
rs773570739	p.Phe381Val	missense variant	-	NC_000014.9:g.22844500T>G	ExAC,TOPMed,gnomAD
rs773570739	p.Phe381Leu	missense variant	-	NC_000014.9:g.22844500T>C	ExAC,TOPMed,gnomAD
rs1225491178	p.Lys383Gln	missense variant	-	NC_000014.9:g.22844506A>C	gnomAD
rs746797730	p.Lys383Arg	missense variant	-	NC_000014.9:g.22844507A>G	ExAC,gnomAD
rs757488463	p.Gly384Glu	missense variant	-	NC_000014.9:g.22844630G>A	ExAC,TOPMed,gnomAD
rs200944154	p.His387Arg	missense variant	-	NC_000014.9:g.22844639A>G	1000Genomes,ExAC,gnomAD
rs1407824806	p.Trp388Ter	stop gained	-	NC_000014.9:g.22844642G>A	TOPMed
rs746849048	p.Val389Met	missense variant	-	NC_000014.9:g.22844644G>A	ExAC,gnomAD
rs375264361	p.Asp391Asn	missense variant	-	NC_000014.9:g.22844650G>A	ESP,ExAC,TOPMed,gnomAD
rs747968435	p.Asp391Glu	missense variant	-	NC_000014.9:g.22844652T>G	ExAC,TOPMed,gnomAD
rs1479786662	p.Ala393Thr	missense variant	-	NC_000014.9:g.22844656G>A	gnomAD
rs772652726	p.Ser394Phe	missense variant	-	NC_000014.9:g.22844660C>T	ExAC,gnomAD
rs748822217	p.Leu395Val	missense variant	-	NC_000014.9:g.22844662C>G	ExAC,gnomAD
rs770606883	p.Glu396Lys	missense variant	-	NC_000014.9:g.22844665G>A	ExAC,gnomAD
rs770606883	p.Glu396Gln	missense variant	-	NC_000014.9:g.22844665G>C	ExAC,gnomAD
rs368081817	p.Gly398Ser	missense variant	-	NC_000014.9:g.22844671G>A	ESP,ExAC,TOPMed,gnomAD
rs766583966	p.Lys401Arg	missense variant	-	NC_000014.9:g.22844681A>G	ExAC,gnomAD
rs761145231	p.His402Tyr	missense variant	-	NC_000014.9:g.22844683C>T	ExAC,TOPMed,gnomAD
rs764659510	p.Gly407Ala	missense variant	-	NC_000014.9:g.22844699G>C	ExAC,gnomAD
rs753905711	p.Arg408Gln	missense variant	-	NC_000014.9:g.22844702G>A	ExAC,TOPMed,gnomAD
rs753905711	p.Arg408Leu	missense variant	-	NC_000014.9:g.22844702G>T	ExAC,TOPMed,gnomAD
COSM954535	p.Arg408Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.22844701C>T	NCI-TCGA Cosmic
rs1361991049	p.Gly409Glu	missense variant	-	NC_000014.9:g.22844705G>A	TOPMed,gnomAD
rs750469248	p.del411ThrGlyPheValLeuLysTyrGlnIleLysSerTerUnk	stop gained	-	NC_000014.9:g.22844709_22844710insACTGGCTTTGTGCTTAAATACCAGATAAAAAGCTAGA	ExAC
rs960666429	p.Pro411Ser	missense variant	-	NC_000014.9:g.22844710C>T	gnomAD
rs765577412	p.Asp413Asn	missense variant	-	NC_000014.9:g.22844716G>A	ExAC,gnomAD
rs754823222	p.Ile415Thr	missense variant	-	NC_000014.9:g.22844723T>C	ExAC,TOPMed,gnomAD
rs145386551	p.Ala418Val	missense variant	-	NC_000014.9:g.22844732C>T	ESP,ExAC,TOPMed,gnomAD
rs747959356	p.Leu419Val	missense variant	-	NC_000014.9:g.22844734C>G	ExAC,gnomAD
rs747959356	p.Leu419Phe	missense variant	-	NC_000014.9:g.22844734C>T	ExAC,gnomAD
rs1426240582	p.Phe420Leu	missense variant	-	NC_000014.9:g.22844737T>C	TOPMed,gnomAD
rs756070951	p.Trp421Arg	missense variant	-	NC_000014.9:g.22844740T>C	ExAC,gnomAD
rs1454477988	p.Lys426Thr	missense variant	-	NC_000014.9:g.22844756A>C	gnomAD
rs1290763435	p.Thr427Ile	missense variant	-	NC_000014.9:g.22844759C>T	gnomAD
NCI-TCGA novel	p.Phe429Val	missense variant	-	NC_000014.9:g.22844764T>G	NCI-TCGA
rs770392329	p.Arg431Cys	missense variant	-	NC_000014.9:g.22844770C>T	ExAC,TOPMed,gnomAD
rs3751489	p.Arg431His	missense variant	-	NC_000014.9:g.22844771G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3751489	p.Arg431His	missense variant	-	NC_000014.9:g.22844771G>A	UniProt,dbSNP
VAR_031267	p.Arg431His	missense variant	-	NC_000014.9:g.22844771G>A	UniProt
rs745468018	p.Lys434Thr	missense variant	-	NC_000014.9:g.22844780A>C	ExAC,TOPMed,gnomAD
rs779735411	p.Lys434Asn	missense variant	-	NC_000014.9:g.22845251G>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr435Ser	missense variant	-	NC_000014.9:g.22845253A>C	NCI-TCGA
rs769024747	p.Tyr436Cys	missense variant	-	NC_000014.9:g.22845256A>G	ExAC,gnomAD
rs762349938	p.Arg437Cys	missense variant	-	NC_000014.9:g.22845258C>T	ExAC,gnomAD
rs770410137	p.Arg437His	missense variant	-	NC_000014.9:g.22845259G>A	ExAC,gnomAD
rs563782263	p.Asn439Thr	missense variant	-	NC_000014.9:g.22845265A>C	ExAC,TOPMed,gnomAD
rs1176285078	p.Glu440Lys	missense variant	-	NC_000014.9:g.22845267G>A	TOPMed,gnomAD
rs1355481871	p.Glu440Asp	missense variant	-	NC_000014.9:g.22845269A>T	gnomAD
rs766554739	p.Glu441Gly	missense variant	-	NC_000014.9:g.22845271A>G	ExAC,gnomAD
rs1296793451	p.Leu442Phe	missense variant	-	NC_000014.9:g.22845273C>T	gnomAD
rs993731511	p.Arg443Gly	missense variant	-	NC_000014.9:g.22845276A>G	TOPMed
rs751752624	p.Ala444Ser	missense variant	-	NC_000014.9:g.22845279G>T	ExAC,gnomAD
rs751752624	p.Ala444Thr	missense variant	-	NC_000014.9:g.22845279G>A	ExAC,gnomAD
rs1343929448	p.Val445Met	missense variant	-	NC_000014.9:g.22845282G>A	TOPMed
rs763893954	p.Ser447Arg	missense variant	-	NC_000014.9:g.22845290C>A	ExAC,TOPMed,gnomAD
rs760395658	p.Ser447Ile	missense variant	-	NC_000014.9:g.22845289G>T	ExAC,gnomAD
rs868120409	p.Ser447Cys	missense variant	-	NC_000014.9:g.22845288A>T	gnomAD
rs868120409	p.Ser447Gly	missense variant	-	NC_000014.9:g.22845288A>G	gnomAD
rs753565021	p.Glu448Lys	missense variant	-	NC_000014.9:g.22845291G>A	ExAC,TOPMed,gnomAD
rs757253086	p.Glu448Val	missense variant	-	NC_000014.9:g.22845292A>T	ExAC,TOPMed,gnomAD
rs778793506	p.Asn452Asp	missense variant	-	NC_000014.9:g.22845303A>G	ExAC,TOPMed,gnomAD
rs757855901	p.Lys454Glu	missense variant	-	NC_000014.9:g.22845309A>G	ExAC,gnomAD
rs1209497673	p.Glu457Lys	missense variant	-	NC_000014.9:g.22845318G>A	gnomAD
rs779602753	p.Gly458Glu	missense variant	-	NC_000014.9:g.22845322G>A	ExAC,gnomAD
rs1408120398	p.Arg464Gly	missense variant	-	NC_000014.9:g.22845339A>G	TOPMed
NCI-TCGA novel	p.Phe467Tyr	missense variant	-	NC_000014.9:g.22845349T>A	NCI-TCGA
rs1168823031	p.Phe467Leu	missense variant	-	NC_000014.9:g.22845350C>G	TOPMed,gnomAD
rs768913182	p.Phe467Leu	missense variant	-	NC_000014.9:g.22845348T>C	ExAC,TOPMed,gnomAD
rs371713859	p.Met468Leu	missense variant	-	NC_000014.9:g.22845351A>T	gnomAD
rs371713859	p.Met468Val	missense variant	-	NC_000014.9:g.22845351A>G	gnomAD
rs1424804543	p.Met468Thr	missense variant	-	NC_000014.9:g.22845352T>C	TOPMed
rs781662896	p.Gly469Asp	missense variant	-	NC_000014.9:g.22845355G>A	ExAC,TOPMed,gnomAD
rs144839050	p.Asp471Asn	missense variant	-	NC_000014.9:g.22845360G>A	ESP,ExAC,TOPMed,gnomAD
rs1487203296	p.Val473Gly	missense variant	-	NC_000014.9:g.22845708T>G	TOPMed
rs748568006	p.Tyr476Cys	missense variant	-	NC_000014.9:g.22845717A>G	ExAC,gnomAD
rs780674045	p.Tyr476Asp	missense variant	-	NC_000014.9:g.22845716T>G	ExAC,TOPMed,gnomAD
rs1364207266	p.Tyr478Asn	missense variant	-	NC_000014.9:g.22845722T>A	gnomAD
rs1364207266	p.Tyr478His	missense variant	-	NC_000014.9:g.22845722T>C	gnomAD
rs1246512601	p.Tyr478Cys	missense variant	-	NC_000014.9:g.22845723A>G	gnomAD
rs1328341129	p.Lys479Glu	missense variant	-	NC_000014.9:g.22845725A>G	TOPMed
rs778451954	p.Gly480Arg	missense variant	-	NC_000014.9:g.22845728G>A	ExAC,gnomAD
COSM3495032	p.Gly480Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22845729G>A	NCI-TCGA Cosmic
rs1285088969	p.Lys482Arg	missense variant	-	NC_000014.9:g.22845735A>G	gnomAD
rs749757665	p.Tyr483Ser	missense variant	-	NC_000014.9:g.22845738A>C	ExAC,gnomAD
COSM954536	p.Phe486Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22845747T>C	NCI-TCGA Cosmic
rs771333204	p.Asn488Lys	missense variant	-	NC_000014.9:g.22845754C>G	ExAC,TOPMed,gnomAD
rs202162126	p.Gln489Arg	missense variant	-	NC_000014.9:g.22845756A>G	ExAC,TOPMed,gnomAD
rs745906569	p.Leu491Val	missense variant	-	NC_000014.9:g.22845761C>G	ExAC
rs992485705	p.Val493Ala	missense variant	-	NC_000014.9:g.22845768T>C	TOPMed
rs772385476	p.Pro495Leu	missense variant	-	NC_000014.9:g.22845774C>T	ExAC,TOPMed,gnomAD
rs761628798	p.Gly496Arg	missense variant	-	NC_000014.9:g.22845776G>C	ExAC,gnomAD
rs1442419564	p.Tyr497His	missense variant	-	NC_000014.9:g.22845779T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro498Leu	missense variant	-	NC_000014.9:g.22845783C>T	NCI-TCGA
rs1408075864	p.Leu502Met	missense variant	-	NC_000014.9:g.22845794C>A	gnomAD
rs201413207	p.Asp504Gly	missense variant	-	NC_000014.9:g.22845801A>G	ExAC,TOPMed,gnomAD
rs773145545	p.Met506Lys	missense variant	-	NC_000014.9:g.22845807T>A	ExAC,gnomAD
rs980032532	p.Gly507Ser	missense variant	-	NC_000014.9:g.22845809G>A	TOPMed
rs763004903	p.Pro509Thr	missense variant	-	NC_000014.9:g.22845815C>A	ExAC,gnomAD
rs766221210	p.Pro509Leu	missense variant	-	NC_000014.9:g.22845816C>T	ExAC,gnomAD
rs751116643	p.Ser510Leu	missense variant	-	NC_000014.9:g.22845819C>T	ExAC,gnomAD
rs767298621	p.Gly512Asp	missense variant	-	NC_000014.9:g.22845825G>A	ExAC,gnomAD
rs756563389	p.Arg513Gln	missense variant	-	NC_000014.9:g.22845828G>A	ExAC,TOPMed,gnomAD
rs141384790	p.Arg513Trp	missense variant	-	NC_000014.9:g.22845827C>T	ESP,ExAC,TOPMed,gnomAD
rs202185020	p.Pro514Leu	missense variant	-	NC_000014.9:g.22845831C>T	ExAC,TOPMed,gnomAD
rs1241716174	p.Asp515Gly	missense variant	-	NC_000014.9:g.22845834A>G	gnomAD
rs779266784	p.Gly517Arg	missense variant	-	NC_000014.9:g.22845839G>C	ExAC,gnomAD
rs536472819	p.Gly517Glu	missense variant	-	NC_000014.9:g.22845840G>A	1000Genomes,ExAC,gnomAD
rs779266784	p.Gly517Arg	missense variant	-	NC_000014.9:g.22845839G>A	ExAC,gnomAD
rs374911087	p.Thr518Ile	missense variant	-	NC_000014.9:g.22845843C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu519Gln	missense variant	-	NC_000014.9:g.22845845G>C	NCI-TCGA
rs1467207189	p.Glu521Lys	missense variant	-	NC_000014.9:g.22845851G>A	gnomAD
rs1156362088	p.Glu521Asp	missense variant	-	NC_000014.9:g.22845853G>C	gnomAD
rs150346850	p.Thr522Arg	missense variant	-	NC_000014.9:g.22845855C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150346850	p.Thr522Met	missense variant	-	NC_000014.9:g.22845855C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1403655464	p.Val524Ala	missense variant	-	NC_000014.9:g.22845861T>C	gnomAD
rs1395303821	p.Ile525Thr	missense variant	-	NC_000014.9:g.22845864T>C	gnomAD
rs1329296247	p.Ile526Val	missense variant	-	NC_000014.9:g.22845866A>G	gnomAD
rs377348480	p.Ile527Thr	missense variant	-	NC_000014.9:g.22845870T>C	ESP,ExAC,gnomAD
rs573497993	p.Ile527Val	missense variant	-	NC_000014.9:g.22845869A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu528Lys	missense variant	-	NC_000014.9:g.22845872G>A	NCI-TCGA
rs767065741	p.Asp530Glu	missense variant	-	NC_000014.9:g.22845880C>G	ExAC,TOPMed,gnomAD
rs760473001	p.Glu531Lys	missense variant	-	NC_000014.9:g.22845881G>A	ExAC,TOPMed,gnomAD
rs760473001	p.Glu531Gln	missense variant	-	NC_000014.9:g.22845881G>C	ExAC,TOPMed,gnomAD
rs763810739	p.Gly533Asp	missense variant	-	NC_000014.9:g.22845888G>A	ExAC,TOPMed,gnomAD
rs996723787	p.Gly533Ser	missense variant	-	NC_000014.9:g.22845887G>A	gnomAD
rs757515188	p.Gly534Ser	missense variant	-	NC_000014.9:g.22845890G>A	ExAC,gnomAD
rs1480446558	p.Gly534Asp	missense variant	-	NC_000014.9:g.22845891G>A	TOPMed,gnomAD
rs201085089	p.Gly535Ala	missense variant	-	NC_000014.9:g.22845894G>C	1000Genomes,ExAC,gnomAD
rs138052455	p.Gly535Arg	missense variant	-	NC_000014.9:g.22845893G>A	ESP,ExAC,TOPMed,gnomAD
rs1465458128	p.Ala536Pro	missense variant	-	NC_000014.9:g.22845896G>C	gnomAD
rs758484236	p.Ala536Val	missense variant	-	NC_000014.9:g.22845897C>T	ExAC,TOPMed,gnomAD
rs1005696831	p.Ala539Thr	missense variant	-	NC_000014.9:g.22845905G>A	TOPMed,gnomAD
rs1406906704	p.Ala539Val	missense variant	-	NC_000014.9:g.22845906C>T	TOPMed,gnomAD
rs749125749	p.Ala540Val	missense variant	-	NC_000014.9:g.22845909C>T	ExAC,gnomAD
rs770589125	p.Ala541Val	missense variant	-	NC_000014.9:g.22845912C>T	ExAC,TOPMed,gnomAD
rs759453175	p.Val542Met	missense variant	-	NC_000014.9:g.22845914G>A	ExAC,TOPMed,gnomAD
rs1273547219	p.Val543Leu	missense variant	-	NC_000014.9:g.22845917G>C	gnomAD
rs1273547219	p.Val543Met	missense variant	-	NC_000014.9:g.22845917G>A	gnomAD
rs772133357	p.Pro545Leu	missense variant	-	NC_000014.9:g.22845924C>T	ExAC,TOPMed,gnomAD
rs760243884	p.Val546Leu	missense variant	-	NC_000014.9:g.22845926G>C	ExAC,TOPMed
rs760243884	p.Val546Met	missense variant	-	NC_000014.9:g.22845926G>A	ExAC,TOPMed
rs1264627362	p.Leu550Pro	missense variant	-	NC_000014.9:g.22845939T>C	gnomAD
rs763861973	p.Ala554Val	missense variant	-	NC_000014.9:g.22845951C>T	ExAC,TOPMed,gnomAD
rs1432544987	p.Ala554Thr	missense variant	-	NC_000014.9:g.22845950G>A	gnomAD
rs762245747	p.Val555Met	missense variant	-	NC_000014.9:g.22845953G>A	ExAC,gnomAD
rs762245747	p.Val555Leu	missense variant	-	NC_000014.9:g.22845953G>T	ExAC,gnomAD
rs750784975	p.Val555Ala	missense variant	-	NC_000014.9:g.22845954T>C	ExAC,TOPMed,gnomAD
rs1426747649	p.Leu557Phe	missense variant	-	NC_000014.9:g.22845959C>T	gnomAD
rs1291905369	p.Leu557Pro	missense variant	-	NC_000014.9:g.22845960T>C	gnomAD
rs561255366	p.Phe562Leu	missense variant	-	NC_000014.9:g.22845974T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs369565852	p.Arg564Cys	missense variant	-	NC_000014.9:g.22845980C>T	ExAC,TOPMed,gnomAD
rs140676928	p.Arg564His	missense variant	-	NC_000014.9:g.22845981G>A	ESP,ExAC,TOPMed,gnomAD
rs1316136288	p.His565Arg	missense variant	-	NC_000014.9:g.22845984A>G	gnomAD
rs1164887509	p.Gly566Val	missense variant	-	NC_000014.9:g.22845987G>T	TOPMed
rs1247653326	p.Thr567Ser	missense variant	-	NC_000014.9:g.22845989A>T	gnomAD
rs1263204215	p.Pro568Leu	missense variant	-	NC_000014.9:g.22845993C>T	gnomAD
rs754998921	p.Arg570Gln	missense variant	-	NC_000014.9:g.22845999G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg570Ter	stop gained	-	NC_000014.9:g.22845998C>T	NCI-TCGA
rs969719906	p.Leu572Pro	missense variant	-	NC_000014.9:g.22846005T>C	TOPMed,gnomAD
rs1263837276	p.Leu572Ile	missense variant	-	NC_000014.9:g.22846004C>A	gnomAD
rs1446692471	p.Arg576Cys	missense variant	-	NC_000014.9:g.22846016C>T	gnomAD
rs979977579	p.Arg576His	missense variant	-	NC_000014.9:g.22846017G>A	TOPMed,gnomAD
rs1162893678	p.Ser577Phe	missense variant	-	NC_000014.9:g.22846020C>T	gnomAD
rs1454427763	p.Leu578Gln	missense variant	-	NC_000014.9:g.22846023T>A	gnomAD
rs748250494	p.Asp580Glu	missense variant	-	NC_000014.9:g.22846030C>G	ExAC,TOPMed,gnomAD
rs1434989438	p.Lys581Asn	missense variant	-	NC_000014.9:g.22846033G>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE;CTD_human
C0001815	Primary Myelofibrosis	disease	LHGDN
C0002395	Alzheimer's Disease	disease	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0002940	Aneurysm	phenotype	BEFREE
C0003175	Anthrax disease	disease	BEFREE
C0003507	Aortic Valve Stenosis	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE;RGD
C0003864	Arthritis	disease	BEFREE
C0003872	Arthritis, Psoriatic	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE;MGD
C0004114	Astrocytoma	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE;LHGDN
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE;LHGDN
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0006264	Bronchial Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007135	Adenocarcinoma, Scirrhous	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0007193	Cardiomyopathy, Dilated	group	BEFREE;LHGDN
C0007621	Neoplastic Cell Transformation	phenotype	CTD_human
C0007786	Brain Ischemia	disease	RGD
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0009375	Colonic Neoplasms	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	LHGDN
C0010038	Corneal Opacity	phenotype	HPO
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	LHGDN
C0010495	Cutis Laxa	disease	BEFREE
C0011334	Dental caries	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	LHGDN
C0013312	Dupuytren Contracture	disease	BEFREE;GWASCAT
C0013336	Dwarfism	disease	BEFREE
C0013537	Eclampsia	disease	BEFREE
C0014170	Endometrial Neoplasms	group	LHGDN
C0014175	Endometriosis	disease	BEFREE;LHGDN
C0014859	Esophageal Neoplasms	group	BEFREE;CTD_human
C0016057	Fibrosarcoma	disease	BEFREE
C0017566	Gingival Hyperplasia	phenotype	HPO
C0017567	Gingival Hypertrophy	disease	HPO
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE;LHGDN
C0017661	IGA Glomerulonephritis	disease	RGD
C0017668	Focal glomerulosclerosis	disease	BEFREE
C0018801	Heart failure	disease	RGD
C0018802	Congestive heart failure	disease	RGD
C0019163	Hepatitis B	disease	BEFREE;LHGDN
C0019196	Hepatitis C	disease	BEFREE
C0019562	Von Hippel-Lindau Syndrome	disease	BEFREE
C0020473	Hyperlipidemia	disease	LHGDN
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C0022116	Ischemia	phenotype	RGD
C0022408	Arthropathy	group	BEFREE;HPO
C0022658	Kidney Diseases	group	BEFREE
C0023051	Laryngeal Diseases	group	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023465	Acute monocytic leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE;CTD_human;LHGDN
C0024121	Lung Neoplasms	group	BEFREE
C0024232	Lymphatic Metastasis	disease	BEFREE;LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0024796	Marfan Syndrome	disease	BEFREE
C0025202	melanoma	disease	BEFREE;LHGDN
C0025500	Mesothelioma	disease	BEFREE
C0027051	Myocardial Infarction	disease	RGD
C0027626	Neoplasm Invasiveness	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027651	Neoplasms	group	BEFREE
C0027721	Lipoid nephrosis	disease	BEFREE
C0027796	Neuralgia	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028754	Obesity	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029456	Osteoporosis	disease	HPO
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	BEFREE
C0032969	Pregnancy in Diabetics	phenotype	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE;LHGDN
C0034067	Pulmonary Emphysema	disease	BEFREE
C0034341	Pyruvate Carboxylase Deficiency Disease	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036202	Sarcoidosis	disease	BEFREE
C0036220	Kaposi Sarcoma	disease	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0037286	Skin Neoplasms	group	BEFREE
C0038356	Stomach Neoplasms	group	LHGDN
C0038454	Cerebrovascular accident	group	BEFREE
C0040136	Thyroid Neoplasm	disease	BEFREE
C0041296	Tuberculosis	disease	BEFREE
C0041582	Ulcer	disease	BEFREE
C0042373	Vascular Diseases	group	LHGDN
C0079293	Epidermolysis Bullosa Acquisita	disease	BEFREE
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0151744	Myocardial Ischemia	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0153633	Malignant neoplasm of brain	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0155094	Corneal pannus	disease	BEFREE
C0155626	Acute myocardial infarction	disease	BEFREE
C0158252	Intervertebral disc disorder	group	BEFREE
C0158266	Intervertebral Disc Degeneration	disease	BEFREE
C0162323	Polyarthritis	disease	BEFREE
C0162871	Aortic Aneurysm, Abdominal	disease	BEFREE;CTD_human;RGD
C0178874	Tumor Progression	phenotype	BEFREE
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0205641	Adenocarcinoma, Basal Cell	disease	CTD_human
C0205642	Adenocarcinoma, Oxyphilic	disease	CTD_human
C0205643	Carcinoma, Cribriform	disease	CTD_human
C0205644	Carcinoma, Granular Cell	disease	CTD_human
C0205645	Adenocarcinoma, Tubular	disease	CTD_human
C0205647	Follicular adenoma	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0220650	Metastatic malignant neoplasm to brain	disease	BEFREE
C0220810	Congenital defects	group	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0236053	Mucosal ulcer	disease	BEFREE
C0238790	bone destruction	disease	BEFREE
C0239946	Fibrosis, Liver	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242383	Age related macular degeneration	disease	BEFREE
C0260037	Multiple tumors	phenotype	BEFREE
C0267952	Fibrosis of pancreas	disease	BEFREE
C0278688	Stage IV Ovarian Carcinoma	disease	BEFREE
C0278704	Malignant Childhood Neoplasm	group	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0280449	secondary acute myeloid leukemia	disease	BEFREE
C0282612	Prostatic Intraepithelial Neoplasias	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0333205	Mural thrombus	disease	BEFREE
C0333307	Superficial ulcer	phenotype	BEFREE
C0333463	Senile Plaques	phenotype	BEFREE
C0333519	Caries (morphologic abnormality)	disease	BEFREE
C0340643	Dissection of aorta	disease	BEFREE
C0345967	Malignant mesothelioma	disease	BEFREE
C0346429	Multiple malignancy	phenotype	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349566	Squamous cell carcinoma of tongue	disease	BEFREE
C0349782	Ischemic cardiomyopathy	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376480	Gingival Overgrowth	phenotype	HPO
C0428791	Aortic valve calcification	disease	BEFREE
C0432289	Winchester syndrome (disorder)	disease	CLINVAR;CTD_human;UNIPROT
C0476089	Endometrial Carcinoma	disease	BEFREE
C0521719	Clouding of corneal stroma	disease	HPO
C0521720	Corneal fibrosis	disease	BEFREE
C0524851	Neurodegenerative Disorders	group	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE;CTD_human
C0549473	Thyroid carcinoma	disease	BEFREE
C0555198	Malignant Glioma	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677898	invasive cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0741916	Cardiac defects	group	BEFREE
C0751674	Lymphangioleiomyomatosis	disease	BEFREE
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C0853879	Invasive carcinoma of breast	disease	BEFREE
C0856742	Post MI	phenotype	BEFREE
C0858252	Breast adenocarcinoma	disease	BEFREE
C0878544	Cardiomyopathies	group	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE;LHGDN
C0936223	Metastatic Prostate Carcinoma	disease	BEFREE
C0940937	precancerous lesions	phenotype	BEFREE
C0947751	Vascular inflammations	phenotype	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1260883	Mural thrombus of heart	disease	BEFREE
C1282496	Metastasis from malignant tumor of prostate	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1318544	M5b Acute differentiated monocytic leukemia	disease	BEFREE
C1332309	Anti-Basement Membrane Glomerulonephritis	disease	RGD
C1334011	High Grade Cervical Intraepithelial Neoplasia	disease	BEFREE
C1334274	Invasive Carcinoma	phenotype	BEFREE
C1334699	Mesenchymal Cell Neoplasm	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1368683	Epithelioma	disease	BEFREE
C1402291	Pigmented lesions	disease	BEFREE
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human;LHGDN
C1511789	Desmoplastic	disease	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1519678	Tumor Expansion	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1527303	Chronic Airflow Obstruction	disease	CTD_human
C1623038	Cirrhosis	disease	BEFREE
C1704320	Glomerulonephritis, Minimal Change	disease	BEFREE
C1845847	Coarse facial features	phenotype	HPO
C1850155	TORG-WINCHESTER SYNDROME	disease	ORPHANET
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2936349	Plaque, Amyloid	phenotype	BEFREE
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3665419	intracranial glioma	disease	BEFREE
C3805887	Generalized osteoporosis with pathologic fractures	disease	HPO
C3828492	Pre-Gestational Diabetes	disease	BEFREE
C3887461	Head and Neck Carcinoma	disease	BEFREE
C4024579	Osteolysis involving bones of the feet	disease	HPO
C4048328	cervical cancer	disease	BEFREE
C4049883	Obstructive Ureterocele	disease	BEFREE
C4072825	Thickened facial skin with coarse facial features	phenotype	HPO
C4073167	Osteolysis involving bones of the upper limbs	phenotype	HPO
C4082974	Dupuytren's Disease	disease	BEFREE
C4476522	Oral soft tissue hyperplasia	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004175	endopeptidase activity	IDA
GO:0004222	metalloendopeptidase activity	ISS
GO:0004222	metalloendopeptidase activity	IBA
GO:0005178	integrin binding	IEA
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA
GO:0070006	metalloaminopeptidase activity	TAS
GO:0070006	metalloaminopeptidase activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	IBA
GO:0001525	angiogenesis	IEA
GO:0001541	ovarian follicle development	IEA
GO:0001666	response to hypoxia	IEA
GO:0001935	endothelial cell proliferation	IEA
GO:0001958	endochondral ossification	IEA
GO:0006508	proteolysis	TAS
GO:0006508	proteolysis	IDA
GO:0006979	response to oxidative stress	IEA
GO:0008584	male gonad development	IEA
GO:0009612	response to mechanical stimulus	IEA
GO:0009725	response to hormone	IEA
GO:0010831	positive regulation of myotube differentiation	ISS
GO:0010954	positive regulation of protein processing	IEA
GO:0014070	response to organic cyclic compound	IEA
GO:0016485	protein processing	TAS
GO:0022617	extracellular matrix disassembly	TAS
GO:0030198	extracellular matrix organization	IBA
GO:0030307	positive regulation of cell growth	IDA
GO:0030324	lung development	IEA
GO:0030335	positive regulation of cell migration	IDA
GO:0030574	collagen catabolic process	IBA
GO:0030574	collagen catabolic process	TAS
GO:0031638	zymogen activation	IDA
GO:0031638	zymogen activation	IBA
GO:0035987	endodermal cell differentiation	IEP
GO:0035988	chondrocyte proliferation	IEA
GO:0043615	astrocyte cell migration	IEA
GO:0043627	response to estrogen	IEA
GO:0045579	positive regulation of B cell differentiation	ISS
GO:0045746	negative regulation of Notch signaling pathway	ISS
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0048754	branching morphogenesis of an epithelial tube	IEA
GO:0048771	tissue remodeling	IEA
GO:0048870	cell motility	TAS
GO:0051895	negative regulation of focal adhesion assembly	IEA
GO:0060322	head development	IEA
GO:0097094	craniofacial suture morphogenesis	IEA
GO:1903076	regulation of protein localization to plasma membrane	IMP
GO:1905523	positive regulation of macrophage migration	IEA
GO:1990834	response to odorant	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IBA
GO:0005615	extracellular space	IMP
GO:0005634	nucleus	IMP
GO:0005796	Golgi lumen	TAS
GO:0005829	cytosol	IDA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0005925	focal adhesion	HDA
GO:0031012	extracellular matrix	IEA
GO:0031410	cytoplasmic vesicle	IDA
GO:0042470	melanosome	IEA
GO:0044354	macropinosome	IDA
GO:0045111	intermediate filament cytoskeleton	IDA
GO:0005737	cytoplasm	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1442490	Collagen degradation	IEA
R-HSA-1442490	Collagen degradation	TAS
R-HSA-1474228	Degradation of the extracellular matrix	TAS
R-HSA-1474228	Degradation of the extracellular matrix	IEA
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-1592389	Activation of Matrix Metalloproteinases	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of MMP14 mRNA	28801915
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased methylation of MMP14 gene	28801915
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of MMP14 mRNA	15913567
D015058	1-Naphthylisothiocyanate	O(2)-vinyl-1-(pyrrolidin-1-yl)diazen-1-ium-1,2-diolate inhibits the reaction [1-Naphthylisothiocyanate results in increased expression of MMP14 mRNA]	15913567
C476036	2-(2-(4-chlorophenyl)ethoxy)adenosine	2-(2-(4-chlorophenyl)ethoxy)adenosine results in decreased expression of MMP14 mRNA	16783407
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
C038890	2,3,4,7,8-pentachlorodibenzofuran	2,3,4,7,8-pentachlorodibenzofuran results in decreased expression of MMP14 mRNA	21724226
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in decreased ADP-ribosylation of MMP14 protein	31165168
C013186	2,3-pentanedione	2,3-pentanedione results in increased expression of MMP14 mRNA	25710175
C061282	2-(4-(2-carboxyethyl)phenethylamino)-5'-N-ethylcarboxamidoadenosine	2-(4-(2-carboxyethyl)phenethylamino)-5'-N-ethylcarboxamidoadenosine results in decreased activity of MMP14 protein	16783407
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of MMP14 mRNA	21346803
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one results in decreased activity of MMP14 protein	22326785
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one results in decreased expression of MMP14 mRNA	19393235; 22326785;
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one results in decreased expression of MMP14 protein	19393235
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of MMP14 mRNA	23196670
C544671	3-caffeoyl-4-dihydrocaffeoylquinic acid	3-caffeoyl-4-dihydrocaffeoylquinic acid inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 mRNA]	20599481
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C012606	4-vinyl-1-cyclohexene dioxide	4-vinyl-1-cyclohexene dioxide affects the expression of MMP14 mRNA	20829426
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of MMP14 mRNA	19480007
C496492	abrine	abrine results in decreased expression of MMP14 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of MMP14 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in increased expression of MMP14 mRNA	29246445
D000082	Acetaminophen	PANX1 gene mutant form inhibits the reaction [Acetaminophen results in increased expression of MMP14 mRNA]	29246445
D000171	Acrolein	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
D000171	Acrolein	Acrolein binds to MMP14 protein	19661247
D000171	Acrolein	Acrolein results in increased activity of MMP14 protein	19661247
D000171	Acrolein	Acrolein results in increased expression of MMP14 mRNA	19661247
D000171	Acrolein	hexaarginine amide inhibits the reaction [Acrolein results in increased activity of MMP14 protein]	19661247
D000171	Acrolein	MMP14 protein affects the reaction [Acrolein results in increased expression of MUC5AC mRNA]	19661247
D000171	Acrolein	N-(2(R)-2-(hydroxamidocarbonylmethyl)-4-methylpentanoyl)-L-tryptophan methylamide inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
D000171	Acrolein	pyrazolanthrone inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
D000171	Acrolein	RTKI cpd inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
D000171	Acrolein	Acrolein results in increased expression of and results in increased activity of MMP14 protein	19661247
D000171	Acrolein	Erlotinib Hydrochloride inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
D020106	Acrylamide	Acrylamide results in decreased expression of MMP14 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of MMP14 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of MMP14 intron	30157460
C482289	Ageladine A	Ageladine A results in decreased activity of MMP14 protein	21413800
D000629	Aminopropionitrile	Aminopropionitrile results in decreased activity of MMP14 protein	24014025
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MMP14 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide affects the expression of MMP14 mRNA	21969006
D000077237	Arsenic Trioxide	[Arsenic Trioxide co-treated with Silybin] results in decreased expression of MMP14 mRNA	21969006
D000077237	Arsenic Trioxide	Arsenic Trioxide inhibits the reaction [Silybin results in increased expression of MMP14 mRNA]	21969006
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of MMP14 mRNA	15962302; 27039805;
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of MMP14 protein	15962302
D000077237	Arsenic Trioxide	Arsenic Trioxide promotes the reaction [Berberine results in decreased expression of MMP14 protein]	18294404
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of MMP14 mRNA	21514415
D001241	Aspirin	Aspirin inhibits the reaction [AGT protein modified form results in increased expression of MMP14 mRNA]	22306536
C547126	AZM551248	AZM551248 results in increased expression of MMP14 mRNA	22323515
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of MMP14 mRNA	29950665
D001464	Barium	Barium results in increased expression of MMP14 protein	23804419
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of MMP14 mRNA	27858113
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of MMP14 mRNA	27858113
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of MMP14 mRNA	27858113
D001599	Berberine	Arsenic Trioxide promotes the reaction [Berberine results in decreased expression of MMP14 protein]	18294404
D001599	Berberine	Berberine results in decreased expression of MMP14 protein	18294404
D019324	beta-Naphthoflavone	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of MMP14 mRNA	18164116
D000077610	Bexarotene	Bexarotene results in decreased expression of MMP14 mRNA	16648578
C004541	biochanin A	biochanin A results in decreased expression of MMP14 protein	16598420
C034786	bis(4-hydroxycinnamoyl)methane	bis(4-hydroxycinnamoyl)methane results in decreased expression of MMP14 protein	18495463
C006780	bisphenol A	bisphenol A results in increased expression of MMP14 mRNA	25619500; 27685785;
C006780	bisphenol A	bisphenol A affects the methylation of MMP14 promoter	27334623
C006780	bisphenol A	bisphenol A affects the expression of MMP14 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of MMP14 gene	28505145
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of MMP14 mRNA	30951980
D002101	Cacodylic Acid	Cacodylic Acid results in increased expression of MMP14 mRNA	17441966
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of MMP14 mRNA	26238599
D002211	Capsaicin	Capsaicin inhibits the reaction [EGF results in increased expression of MMP14]	21462327
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of MMP14 mRNA	30517762
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of MMP14 mRNA	15056808; 18263696; 25827057;
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of MMP14 mRNA	15963342
C010063	carbonyl sulfide	carbonyl sulfide results in increased expression of MMP14 mRNA	19395590
C097658	CGS 27023A	CGS 27023A affects the activity of MMP14 protein	22017477
D002713	Chlorine	[Ozone co-treated with Chlorine] results in decreased expression of MMP14 mRNA	18636392
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of MMP14 mRNA	27858113
D002922	Ciguatoxins	Ciguatoxins affects the expression of MMP14 mRNA	18353800
D002945	Cisplatin	Cisplatin results in decreased expression of MMP14 mRNA	29148169
D060729	Coal Ash	Coal Ash results in increased expression of MMP14 mRNA	19000753
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MMP14 mRNA	19320972
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MMP14 mRNA	24386269
D003042	Cocaine	Cocaine affects the expression of MMP14 mRNA	20187946
C015763	cumene	[cumene co-treated with KRAS gene mutant form] results in decreased expression of MMP14 mRNA	18648096
D003471	Cuprizone	Cuprizone results in increased expression of MMP14 mRNA	26577399
D003474	Curcumin	Curcumin results in decreased expression of MMP14 protein	18495463
D003474	Curcumin	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of MMP14 mRNA]	18200517
D003474	Curcumin	Curcumin inhibits the reaction [Indomethacin results in decreased expression of MMP14 protein]	16934674
D016572	Cyclosporine	Cyclosporine results in increased expression of MMP14 mRNA	20106945
D003543	Cysteamine	Cysteamine results in increased expression of MMP14 mRNA	22532830
D003543	Cysteamine	Cysteamine results in increased expression of MMP14 protein	22532830
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of MMP14 mRNA	23640034
D000077209	Decitabine	Decitabine results in increased expression of MMP14 mRNA	27915011
C050229	demethoxycurcumin	demethoxycurcumin results in decreased expression of MMP14 protein	18495463
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of MMP14 mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of MMP14 mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of MMP14 mRNA	21266533
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of MMP14 mRNA	18164116
C039060	dihydroartemisinin	dihydroartemisinin inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 mRNA]	20152819
C039060	dihydroartemisinin	dihydroartemisinin inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 protein]	20152819
D004128	Dimethylnitrosamine	[Dimethylnitrosamine co-treated with gadolinium chloride] results in increased expression of MMP14 mRNA	12493575
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of MMP14 protein	18371158
D004128	Dimethylnitrosamine	Drugs, Chinese Herbal inhibits the reaction [Dimethylnitrosamine results in increased expression of MMP14 protein]	18371158
D004237	Diuron	Diuron results in decreased expression of MMP14 mRNA	25152437
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of MMP14 mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in increased activity of MMP14 protein	19782292
D004317	Doxorubicin	Doxorubicin results in increased expression of MMP14 mRNA	19782292
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal inhibits the reaction [Dimethylnitrosamine results in increased expression of MMP14 protein]	18371158
D004391	Dust	Dust results in increased expression of MMP14 mRNA	17805423
D004726	Endosulfan	Endosulfan results in decreased expression of MMP14 mRNA	29391264
D000069347	Erlotinib Hydrochloride	Erlotinib Hydrochloride inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
D004958	Estradiol	Estradiol affects the expression of MMP14 mRNA	22574217
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of MMP14 protein	18829229
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of MMP14 mRNA	30165855
D004958	Estradiol	Estradiol inhibits the reaction [Progesterone results in increased expression of MMP14 mRNA]	18692832
D004958	Estradiol	Estradiol results in increased expression of MMP14 mRNA	18829229
D004958	Estradiol	Estradiol results in increased expression of MMP14 protein	18829229
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of MMP14 mRNA	17404688
D004958	Estradiol	Estradiol results in increased expression of MMP14 mRNA	19484750
D004967	Estrogens	[Estrogens co-treated with Progesterone co-treated with IL1B protein] results in increased expression of MMP14 mRNA	18570937
D004967	Estrogens	Estrogens results in increased expression of MMP14 protein	18570937
D000431	Ethanol	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of MMP14 mRNA	30517762
D000431	Ethanol	Ethanol results in increased expression of MMP14 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MMP14 mRNA	15576828
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of MMP14 mRNA	23129252
C024565	ethylene dichloride	ethylene dichloride results in increased expression of MMP14 mRNA	28189721
D017313	Fenretinide	Fenretinide results in increased expression of MMP14 mRNA	28973697
D018120	Finasteride	Finasteride results in increased expression of MMP14 mRNA	24136188
D005485	Flutamide	Flutamide results in decreased expression of MMP14 mRNA	24136188
C067584	formosanin C	formosanin C results in decreased expression of MMP14 protein	21304274
C039281	furan	furan results in increased methylation of MMP14 gene	22079235
C038958	gadolinium chloride	[Dimethylnitrosamine co-treated with gadolinium chloride] results in increased expression of MMP14 mRNA	12493575
C038958	gadolinium chloride	gadolinium chloride results in increased expression of MMP14 mRNA	12493575
C038958	gadolinium chloride	gadolinium chloride results in increased expression of MMP14 protein	12493575
D019833	Genistein	Genistein results in decreased expression of MMP14 mRNA	15754008
D019833	Genistein	Genistein results in decreased expression of MMP14 protein	16598420
D019833	Genistein	Genistein results in increased expression of MMP14 mRNA	22228119
D005947	Glucose	Glucose results in decreased expression of MMP14 protein	21367880
D005947	Glucose	isoangustone A inhibits the reaction [Glucose results in decreased expression of MMP14 protein]	21367880
D006493	Heparin	Heparin analog results in decreased expression of MMP14 mRNA	26476401
C492739	hexaarginine amide	hexaarginine amide inhibits the reaction [Acrolein results in increased activity of MMP14 protein]	19661247
C031927	hydroquinone	[MMP14 protein co-treated with TIMP2 protein] inhibits the reaction [hydroquinone results in decreased activity of MMP2 protein]	18055817
C031927	hydroquinone	MMP14 protein inhibits the reaction [hydroquinone results in decreased activity of MMP2 protein]	18055817
C031927	hydroquinone	MMP14 protein inhibits the reaction [hydroquinone results in increased expression of COL1A1 protein]	18055817
C031927	hydroquinone	MMP14 protein inhibits the reaction [hydroquinone results in increased expression of COL4A1 protein]	18055817
C031927	hydroquinone	MMP14 protein inhibits the reaction [hydroquinone results in increased expression of LAMA4 protein]	18055817
C031927	hydroquinone	[TIMP2 protein co-treated with MMP14 protein] inhibits the reaction [hydroquinone results in increased expression of COL1A1 protein]	18055817
C031927	hydroquinone	[TIMP2 protein co-treated with MMP14 protein] inhibits the reaction [hydroquinone results in increased expression of COL4A1 protein]	18055817
C031927	hydroquinone	[TIMP2 protein co-treated with MMP14 protein] inhibits the reaction [hydroquinone results in increased expression of LAMA4 protein]	18055817
C079053	IH 764-3	IH 764-3 inhibits the reaction [Paraquat results in increased expression of MMP14 mRNA]	22804981
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of MMP14 mRNA	21396975
D007213	Indomethacin	Curcumin inhibits the reaction [Indomethacin results in decreased expression of MMP14 protein]	16934674
D007213	Indomethacin	Indomethacin results in decreased expression of MMP14 protein	16934674
D007213	Indomethacin	Melatonin inhibits the reaction [Indomethacin results in decreased expression of MMP14 protein]	16934674
D007213	Indomethacin	Omeprazole inhibits the reaction [Indomethacin results in decreased expression of MMP14 protein]	16934674
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of MMP14 mRNA	25613284
C551631	isoangustone A	isoangustone A inhibits the reaction [Glucose results in decreased expression of MMP14 protein]	21367880
D007545	Isoproterenol	Isoproterenol results in increased expression of MMP14 mRNA	21335049
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MMP14 mRNA	24796395; 25961927;
D007649	Ketamine	Ketamine results in decreased expression of MMP14 mRNA	20080153
C572783	kuguacin J	kuguacin J results in decreased expression of MMP14 mRNA	22266361
D019344	Lactic Acid	Lactic Acid results in increased expression of MMP14 mRNA	30851411
C008261	lead acetate	lead acetate results in decreased expression of MMP14 mRNA	22641619
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of MMP14 mRNA	12057914
D019808	Losartan	Losartan inhibits the reaction [AGT protein modified form results in increased expression of MMP14 mRNA]	22306536
C100796	lysine tyrosylquinone	lysine tyrosylquinone results in increased activity of MMP14 protein	24014025
D008345	Manganese	Manganese results in decreased expression of MMP14 protein	17043766
C025340	manganese chloride	manganese chloride results in decreased expression of MMP14 mRNA	28801915
C025340	manganese chloride	manganese chloride results in increased methylation of MMP14 gene	28801915
D061965	Matrix Metalloproteinase Inhibitors	Matrix Metalloproteinase Inhibitors inhibits the reaction [sodium arsenite results in increased expression of MMP14 protein]	24816914
D008550	Melatonin	Melatonin inhibits the reaction [Indomethacin results in decreased expression of MMP14 protein]	16934674
C042720	mercuric bromide	mercuric bromide results in increased expression of MMP14 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
D008687	Metformin	Metformin inhibits the reaction [IL13 protein results in increased expression of MMP14 mRNA]	26497364
D008731	Methoxychlor	Methoxychlor affects the expression of MMP14 mRNA	20829426
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of MMP14 mRNA	23103053
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of MMP14 mRNA	28001369
D015735	Mifepristone	Mifepristone results in increased expression of MMP14 mRNA	17584828
D016685	Mitomycin	Mitomycin results in decreased expression of MMP14 mRNA	12760830
C078131	N-(2(R)-2-(hydroxamidocarbonylmethyl)-4-methylpentanoyl)-L-tryptophan methylamide	N-(2(R)-2-(hydroxamidocarbonylmethyl)-4-methylpentanoyl)-L-tryptophan methylamide inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of MMP14 mRNA	23845593
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of MMP14 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of MMP14 mRNA	25554681; 25620056;
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of MMP14 mRNA	19812364
C029938	nickel sulfate	nickel sulfate results in increased expression of MMP14 mRNA	16100012
C107010	O(2)-vinyl-1-(pyrrolidin-1-yl)diazen-1-ium-1,2-diolate	O(2)-vinyl-1-(pyrrolidin-1-yl)diazen-1-ium-1,2-diolate inhibits the reaction [1-Naphthylisothiocyanate results in increased expression of MMP14 mRNA]	15913567
D009853	Omeprazole	Omeprazole inhibits the reaction [Indomethacin results in decreased expression of MMP14 protein]	16934674
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of MMP14 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of MMP14 mRNA	25729387
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of MMP14 mRNA	30529165
D010100	Oxygen	Oxygen deficiency results in increased expression of MMP14 mRNA	24205000
D010100	Oxygen	Oxygen deficiency results in increased expression of MMP14 mRNA	16980344
D010100	Oxygen	Oxygen deficiency results in increased expression of MMP14 protein	16980344
D010126	Ozone	[Ozone co-treated with Chlorine] results in decreased expression of MMP14 mRNA	18636392
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of MMP14 mRNA	26272509
D010269	Paraquat	Paraquat results in increased expression of MMP14 mRNA	26345256
D010269	Paraquat	IH 764-3 inhibits the reaction [Paraquat results in increased expression of MMP14 mRNA]	22804981
D010269	Paraquat	Paraquat results in increased expression of MMP14 mRNA	22804981
C074968	pentaacetyl geniposide	pentaacetyl geniposide results in decreased expression of MMP14 mRNA	19464279
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of MMP14 mRNA	19162173
D010634	Phenobarbital	Phenobarbital affects the expression of MMP14 mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in decreased expression of MMP14 mRNA	19162173
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of MMP14 mRNA	26272509
C004479	pimagedine	pimagedine results in increased expression of MMP14 mRNA	18380797
C008922	piperine	piperine inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 mRNA]	21354279
C008922	piperine	piperine inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 protein]	21354279
C006253	pirinixic acid	pirinixic acid results in decreased expression of MMP14 mRNA	19162173
D010936	Plant Extracts	Plant Extracts results in decreased expression of MMP14 mRNA	23557933
C060540	polyhexamethyleneguanidine	polyhexamethyleneguanidine results in increased expression of MMP14 mRNA	27989595
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of MMP14 protein	23718831
D017035	Pravastatin	Pravastatin results in decreased expression of MMP14 mRNA	16935385
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of MMP14 mRNA	19162173
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of MMP14 protein	18829229
D011374	Progesterone	Estradiol inhibits the reaction [Progesterone results in increased expression of MMP14 mRNA]	18692832
D011374	Progesterone	[Estrogens co-treated with Progesterone co-treated with IL1B protein] results in increased expression of MMP14 mRNA	18570937
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of MMP14 mRNA	17404688
D011374	Progesterone	Progesterone results in increased expression of MMP14 mRNA	18692832; 26604029;
C045950	propiconazole	propiconazole results in decreased expression of MMP14 mRNA	21278054
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of MMP14 mRNA	25825206
D011441	Propylthiouracil	Propylthiouracil results in increased expression of MMP14 mRNA	24780913
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of MMP14 mRNA	27029645
C432165	pyrazolanthrone	pyrazolanthrone inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
D012402	Rotenone	Rotenone results in increased expression of MMP14 mRNA	28374803
C101044	RTKI cpd	RTKI cpd inhibits the reaction [Acrolein results in increased expression of MMP14 mRNA]	19661247
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of MMP14 mRNA	21427059
C010327	salinomycin	salinomycin results in decreased expression of MMP14 mRNA	19682730
D012643	Selenium	Selenium results in decreased expression of MMP14 mRNA	17390030
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of MMP14 mRNA	23623845
D000077385	Silybin	[Arsenic Trioxide co-treated with Silybin] results in decreased expression of MMP14 mRNA	21969006
D000077385	Silybin	Arsenic Trioxide inhibits the reaction [Silybin results in increased expression of MMP14 mRNA]	21969006
D012906	Smoke	Smoke results in decreased expression of MMP14 mRNA	21095227
C017947	sodium arsenite	Matrix Metalloproteinase Inhibitors inhibits the reaction [sodium arsenite results in increased expression of MMP14 protein]	24816914
C017947	sodium arsenite	sodium arsenite results in increased expression of MMP14 mRNA	24816914
C017947	sodium arsenite	sodium arsenite results in increased expression of MMP14 protein	24816914
C017947	sodium arsenite	sodium arsenite results in decreased expression of MMP14 mRNA	16014739
C017947	sodium arsenite	sodium arsenite results in increased expression of MMP14 protein	18569616
C017947	sodium arsenite	[sodium arsenite results in increased expression of MMP14 protein] which results in increased activity of MMP2 protein	18569616
C017947	sodium arsenite	[sodium arsenite results in increased expression of MMP14 protein] which results in increased expression of MMP2 protein modified form	18569616
D053260	Soot	Soot results in increased expression of MMP14 mRNA	22461453; 26551751;
D013467	Sulindac	Sulindac results in decreased expression of MMP14 mRNA	24136188
D000077210	Sunitinib	Sunitinib results in decreased expression of MMP14 mRNA	31533062
D013629	Tamoxifen	Tamoxifen results in decreased expression of MMP14 mRNA	19393235
D013629	Tamoxifen	Tamoxifen results in decreased expression of MMP14 protein	19393235
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MMP14 mRNA	21570461; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of MMP14 mRNA	16120747
C117155	tetracycline CMT-3	tetracycline CMT-3 inhibits the reaction [MMP14 protein results in increased metabolism of and results in increased activity of MMP2 protein]	11172680
C117155	tetracycline CMT-3	tetracycline CMT-3 results in decreased activity of MMP14 protein	11172680
D013755	Tetradecanoylphorbol Acetate	3-caffeoyl-4-dihydrocaffeoylquinic acid inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 mRNA]	20599481
D013755	Tetradecanoylphorbol Acetate	dihydroartemisinin inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 mRNA]	20152819
D013755	Tetradecanoylphorbol Acetate	dihydroartemisinin inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 protein]	20152819
D013755	Tetradecanoylphorbol Acetate	piperine inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 mRNA]	21354279
D013755	Tetradecanoylphorbol Acetate	piperine inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of MMP14 protein]	21354279
D013755	Tetradecanoylphorbol Acetate	Tetradecanoylphorbol Acetate results in increased expression of MMP14 mRNA	20152819; 20599481; 21354279;
D013755	Tetradecanoylphorbol Acetate	Tetradecanoylphorbol Acetate results in increased expression of MMP14 protein	20152819; 21354279;
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of MMP14 mRNA	25613284
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of MMP14 mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in increased expression of MMP14 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in increased expression of MMP14 mRNA	30012374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of MMP14 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of MMP14 mRNA	20133372
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of MMP14 mRNA	28111298
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of and results in increased activity of MMP14 protein	19661247
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of MMP14 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of MMP14 mRNA	25729387
D014118	Toxins, Biological	Toxins, Biological affects the expression of MMP14 mRNA	19682533
D014192	Trapidil	Trapidil affects the reaction [PTH protein affects the expression of MMP14 mRNA]	18635661
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of MMP14 mRNA	30951980
C012589	trichostatin A	trichostatin A affects the expression of MMP14 mRNA	28542535
D014302	Trinitrobenzenesulfonic Acid	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of MMP14 mRNA]	18200517
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of MMP14 mRNA	18200517
C113580	U 0126	U 0126 results in decreased activity of MMP14 protein	22326785
C113580	U 0126	U 0126 results in decreased expression of MMP14 mRNA	19393235; 22326785;
C113580	U 0126	U 0126 results in decreased expression of MMP14 protein	19393235
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of MMP14 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of MMP14 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of MMP14 mRNA	26272509
D014635	Valproic Acid	Valproic Acid results in increased methylation of MMP14 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of MMP14 mRNA	17292431
D014635	Valproic Acid	Valproic Acid results in decreased expression of MMP14 mRNA	20546886; 21427059;
D014638	Vanadates	Vanadates results in increased expression of MMP14 mRNA	22714537
D014639	Vanadium	Vanadium results in increased expression of MMP14 mRNA	19000753
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MMP14 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of MMP14 mRNA	26272509
C108830	Y 27632	Y 27632 inhibits the reaction [ABCB4 gene mutant form results in increased expression of MMP14 mRNA]	30682444
C087958	YM 529	YM 529 results in decreased expression of and results in decreased activity of MMP14 protein	22326785
C087958	YM 529	YM 529 results in decreased expression of MMP14 mRNA	22326785
C521292	YSNSG cyclopeptide	YSNSG cyclopeptide results in decreased activity of MMP14 protein	19551865

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0106	Calcium
KW-0165	Cleavage on pair of basic residues
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0378	Hydrolase
KW-0472	Membrane
KW-0479	Metal-binding
KW-0482	Metalloprotease
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0645	Protease
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0862	Zinc
KW-0865	Zymogen

Interpro

InterPro ID	InterPro Term
IPR000585	Hemopexin-like_dom
IPR036375	Hemopexin-like_dom_sf
IPR018487	Hemopexin-like_repeat
IPR018486	Hemopexin_CS
IPR033739	M10A_MMP
IPR024079	MetalloPept_cat_dom_sf
IPR001818	Pept_M10_metallopeptidase
IPR021190	Pept_M10A
IPR021805	Pept_M10A_metallopeptidase_C
IPR021158	Pept_M10A_Zn_BS
IPR006026	Peptidase_Metallo
IPR002477	Peptidoglycan-bd-like
IPR036365	PGBD-like_sf
IPR036366	PGBDSf

PROSITE

PROSITE ID	PROSITE Term
PS00546	CYSTEINE_SWITCH
PS00024	HEMOPEXIN
PS51642	HEMOPEXIN_2
PS00142	ZINC_PROTEASE

Pfam

Pfam ID	Pfam Term
PF11857	DUF3377
PF00045	Hemopexin
PF00413	Peptidase_M10
PF01471	PG_binding_1

Gene: MMP14

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction