CleftGeneDB-Search

Gene: DLG1

Basic information

Tag	Content
Uniprot ID	Q12959; A5YKK7; B4DGU1; B4DGZ8; B7ZMM0; B9EIQ5; D3DXB8; D3DXB9; E7EWL7; E9PG21; Q12958;
Entrez ID	1739
Genbank protein ID	ABQ66269.1; AAA50599.1; AAI40842.1; EAW53610.1; AAI44652.1; BAG57959.1; EAW53612.1; EAW53611.1; EAW53614.1; BAG57902.1; AAA50598.1;
Genbank nucleotide ID	NM_001204386.1; XM_011512502.2; NM_004087.2; XM_017005803.1; XM_017005819.1; XM_017005806.1; XM_017005820.1; XM_017005817.1; XM_011512506.1; NM_001204387.1; XM_017005802.1; NM_001098424.1; XM_017005810.1; NM_001290983.1; XM_017005809.1; NM_001204388.1; XM_017005800.1; XM_017005801.1; XM_017005816.1; XM_017005805.1; XM_017005818.1; XM_011512505.1; XM_011512503.1; XM_017005808.1; XM_017005807.1; XM_005269289.3;
Ensembl protein ID	ENSP00000499413; ENSP00000407531; ENSP00000345731; ENSP00000413238; ENSP00000499542; ENSP00000499384; ENSP00000350303; ENSP00000499602; ENSP00000396658; ENSP00000391732; ENSP00000376187; ENSP00000411278; ENSP00000499580; ENSP00000499437; ENSP00000499657; ENSP00000398939; ENSP00000499414; ENSP00000499793; ENSP00000499514;
Ensembl nucleotide ID	ENSG00000075711
Gene name	Disks large homolog 1
Gene symbol	DLG1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497).
Sequence	MPVRKQDTQR ALHLLEEYRS KLSQTEDRQL RSSIERVINI FQSNLFQALI DIQEFYEVTL 60 LDNPKCIDRS KPSEPIQPVN TWEISSLPSS TVTSETLPSS LSPSVEKYRY QDEDTPPQEH 120 ISPQITNEVI GPELVHVSEK NLSEIENVHG FVSHSHISPI KPTEAVLPSP PTVPVIPVLP 180 VPAENTVILP TIPQANPPPV LVNTDSLETP TYVNGTDADY EYEEITLERG NSGLGFSIAG 240 GTDNPHIGDD SSIFITKIIT GGAAAQDGRL RVNDCILRVN EVDVRDVTHS KAVEALKEAG 300 SIVRLYVKRR KPVSEKIMEI KLIKGPKGLG FSIAGGVGNQ HIPGDNSIYV TKIIEGGAAH 360 KDGKLQIGDK LLAVNNVCLE EVTHEEAVTA LKNTSDFVYL KVAKPTSMYM NDGYAPPDIT 420 NSSSQPVDNH VSPSSFLGQT PASPARYSPV SKAVLGDDEI TREPRKVVLH RGSTGLGFNI 480 VGGEDGEGIF ISFILAGGPA DLSGELRKGD RIISVNSVDL RAASHEQAAA ALKNAGQAVT 540 IVAQYRPEEY SRFEAKIHDL REQMMNSSIS SGSGSLRTSQ KRSLYVRALF DYDKTKDSGL 600 PSQGLNFKFG DILHVINASD DEWWQARQVT PDGESDEVGV IPSKRRVEKK ERARLKTVKF 660 NSKTRDKGEI PDDMGSKGLK HVTSNASDSE SSYRGQEEYV LSYEPVNQQE VNYTRPVIIL 720 GPMKDRINDD LISEFPDKFG SCVPHTTRPK RDYEVDGRDY HFVTSREQME KDIQEHKFIE 780 AGQYNNHLYG TSVQSVREVA EKGKHCILDV SGNAIKRLQI AQLYPISIFI KPKSMENIME 840 MNKRLTEEQA RKTFERAMKL EQEFTEHFTA IVQGDTLEDI YNQVKQIIEE QSGSYIWVPA 900 KEKL 904

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
1PDR
2M3M
2OQS
2X7Z
3LRA
3RL7
3RL8
3W9Y
4AMH
4G69
1PDR
2OQS
2X7Z
3LRA
3RL7

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	DLG1		A0A452E2Y8			Capra hircus	Prediction	More>>
1:1 ortholog	DLG1	1739	Q12959			Homo sapiens	Prediction	More>>
1:1 ortholog	Dlg1	13383	Q811D0	CPO	E12.5, E15.5	Mus musculus	Publication	More>>
1:1 ortholog	DLG1		K7C1N7			Pan troglodytes	Prediction	More>>
1:1 ortholog	Dlg1		A0A0G2K1M2			Rattus norvegicus	Prediction	More>>
1:1 ortholog	dlg1	114446	Q5PYH6			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs78766456	p.Pro2Gln	missense variant	-	NC_000003.12:g.197297200G>T	TOPMed
rs1360079948	p.Val3Leu	missense variant	-	NC_000003.12:g.197297198C>G	gnomAD
NCI-TCGA novel	p.Arg4Gln	missense variant	-	NC_000003.12:g.197297194C>T	NCI-TCGA
rs1413258286	p.Arg4Trp	missense variant	-	NC_000003.12:g.197297195G>A	gnomAD
rs761158636	p.Lys5Asn	missense variant	-	NC_000003.12:g.197297190C>G	ExAC,gnomAD
COSM1485063	p.Gln6Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197297189G>C	NCI-TCGA Cosmic
rs1241629571	p.Asp7His	missense variant	-	NC_000003.12:g.197297186C>G	TOPMed
COSM4928022	p.Thr8Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197296475T>A	NCI-TCGA Cosmic
rs1159618844	p.Thr8Ile	missense variant	-	NC_000003.12:g.197296474G>A	TOPMed
rs1037047320	p.Gln9Arg	missense variant	-	NC_000003.12:g.197296471T>C	TOPMed
NCI-TCGA novel	p.Arg10Ile	missense variant	-	NC_000003.12:g.197296468C>A	NCI-TCGA
rs772746560	p.His13Gln	missense variant	-	NC_000003.12:g.197296458G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu15Val	missense variant	-	NC_000003.12:g.197296454A>C	NCI-TCGA
rs769433622	p.Glu16Gly	missense variant	-	NC_000003.12:g.197296450T>C	ExAC,gnomAD
rs149422844	p.Arg19Leu	missense variant	-	NC_000003.12:g.197296441C>A	ESP,TOPMed,gnomAD
rs149422844	p.Arg19His	missense variant	-	NC_000003.12:g.197296441C>T	ESP,TOPMed,gnomAD
rs761550433	p.Ser20Leu	missense variant	-	NC_000003.12:g.197296438G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser20Ter	stop gained	-	NC_000003.12:g.197296438G>C	NCI-TCGA
rs750624859	p.Gln24Arg	missense variant	-	NC_000003.12:g.197296426T>C	ExAC,gnomAD
rs750624859	p.Gln24Leu	missense variant	-	NC_000003.12:g.197296426T>A	ExAC,gnomAD
rs768255606	p.Thr25Ala	missense variant	-	NC_000003.12:g.197296424T>C	ExAC,TOPMed,gnomAD
rs577307210	p.Glu26Ala	missense variant	-	NC_000003.12:g.197296420T>G	1000Genomes,TOPMed
rs1369759761	p.Glu26Ter	stop gained	-	NC_000003.12:g.197296421C>A	TOPMed
COSM4824077	p.Glu26Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197296421C>T	NCI-TCGA Cosmic
rs780001107	p.Asp27His	missense variant	-	NC_000003.12:g.197296418C>G	ExAC,gnomAD
rs771768390	p.Arg28Ser	missense variant	-	NC_000003.12:g.197296413T>A	ExAC,TOPMed,gnomAD
rs745616960	p.Gln29His	missense variant	-	NC_000003.12:g.197296410C>G	ExAC,TOPMed,gnomAD
rs778558896	p.Ser33Phe	missense variant	-	NC_000003.12:g.197296399G>A	ExAC,TOPMed,gnomAD
rs778558896	p.Ser33Cys	missense variant	-	NC_000003.12:g.197296399G>C	ExAC,TOPMed,gnomAD
rs757543373	p.Ile34Val	missense variant	-	NC_000003.12:g.197296397T>C	ExAC
rs749483264	p.Arg36Trp	missense variant	-	NC_000003.12:g.197296391G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn39Ser	missense variant	-	NC_000003.12:g.197296381T>C	NCI-TCGA
rs1283691085	p.Ile40Thr	missense variant	-	NC_000003.12:g.197296378A>G	TOPMed
rs1441819158	p.Phe41Cys	missense variant	-	NC_000003.12:g.197296375A>C	gnomAD
rs188448033	p.Ser43Cys	missense variant	-	NC_000003.12:g.197296370T>A	1000Genomes,ExAC,gnomAD
rs1457261636	p.Ser43Arg	missense variant	-	NC_000003.12:g.197296368G>C	TOPMed,gnomAD
rs1457261636	p.Ser43Arg	missense variant	-	NC_000003.12:g.197296368G>T	TOPMed,gnomAD
rs756139447	p.Ser43Asn	missense variant	-	NC_000003.12:g.197296369C>T	ExAC,gnomAD
rs1248338765	p.Asn44Tyr	missense variant	-	NC_000003.12:g.197296367T>A	gnomAD
rs753180157	p.Leu45Phe	missense variant	-	NC_000003.12:g.197296364G>A	ExAC,TOPMed,gnomAD
rs753180157	p.Leu45Val	missense variant	-	NC_000003.12:g.197296364G>C	ExAC,TOPMed,gnomAD
rs1468203694	p.Gln47Glu	missense variant	-	NC_000003.12:g.197296358G>C	TOPMed
COSM1485062	p.Gln47Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197296358G>A	NCI-TCGA Cosmic
rs1418139795	p.Asp51Glu	missense variant	-	NC_000003.12:g.197282844A>T	gnomAD
rs1231675229	p.Ile52Thr	missense variant	-	NC_000003.12:g.197282842A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu54Ter	stop gained	-	NC_000003.12:g.197282837C>A	NCI-TCGA
rs1174161288	p.Tyr56Cys	missense variant	-	NC_000003.12:g.197282830T>C	gnomAD
COSM3591929	p.Tyr56Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197282831A>T	NCI-TCGA Cosmic
rs1466482748	p.Thr59Ile	missense variant	-	NC_000003.12:g.197282821G>A	gnomAD
rs1377002963	p.Leu61Met	missense variant	-	NC_000003.12:g.197282816G>T	TOPMed,gnomAD
rs1368073847	p.Leu61Pro	missense variant	-	NC_000003.12:g.197282815A>G	TOPMed
rs1293912265	p.Asp62Gly	missense variant	-	NC_000003.12:g.197282812T>C	gnomAD
NCI-TCGA novel	p.Asn63Thr	missense variant	-	NC_000003.12:g.197282809T>G	NCI-TCGA
rs1236133173	p.Pro64Arg	missense variant	-	NC_000003.12:g.197282806G>C	TOPMed
rs373055195	p.Asp68Gly	missense variant	-	NC_000003.12:g.197282794T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp68Tyr	missense variant	-	NC_000003.12:g.197282795C>A	NCI-TCGA
rs775132251	p.Arg69Leu	missense variant	-	NC_000003.12:g.197282791C>A	ExAC,TOPMed,gnomAD
rs753543349	p.Arg69Cys	missense variant	-	NC_000003.12:g.197282792G>A	ExAC,gnomAD
rs775132251	p.Arg69Pro	missense variant	-	NC_000003.12:g.197282791C>G	ExAC,TOPMed,gnomAD
rs775132251	p.Arg69His	missense variant	-	NC_000003.12:g.197282791C>T	ExAC,TOPMed,gnomAD
rs766907125	p.Ser70Leu	missense variant	-	NC_000003.12:g.197282788G>A	ExAC,gnomAD
rs368806057	p.Lys71Glu	missense variant	-	NC_000003.12:g.197282786T>C	ESP,ExAC,TOPMed,gnomAD
rs1201452687	p.Pro72Leu	missense variant	-	NC_000003.12:g.197282782G>A	TOPMed,gnomAD
rs749018763	p.Ser73Cys	missense variant	-	NC_000003.12:g.197282779G>C	ExAC,gnomAD
rs113378155	p.Pro78Leu	missense variant	-	NC_000003.12:g.197282764G>A	ExAC,gnomAD
rs770063351	p.Val79Met	missense variant	-	NC_000003.12:g.197282762C>T	ExAC,gnomAD
rs748318075	p.Asn80Ser	missense variant	-	NC_000003.12:g.197282758T>C	ExAC,TOPMed,gnomAD
rs1398364706	p.Thr81Ile	missense variant	-	NC_000003.12:g.197282755G>A	gnomAD
NCI-TCGA novel	p.Glu83Lys	missense variant	-	NC_000003.12:g.197282750C>T	NCI-TCGA
rs1241678036	p.Ile84Leu	missense variant	-	NC_000003.12:g.197282747T>G	TOPMed
rs781377410	p.Ile84Asn	missense variant	-	NC_000003.12:g.197282746A>T	ExAC,TOPMed,gnomAD
COSM1043149	p.Ile84Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197282745A>C	NCI-TCGA Cosmic
rs199887410	p.Leu87Phe	missense variant	-	NC_000003.12:g.197282738G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1174224321	p.Ser89Gly	missense variant	-	NC_000003.12:g.197282732T>C	gnomAD
rs747579335	p.Ser89Thr	missense variant	-	NC_000003.12:g.197282731C>G	ExAC,TOPMed,gnomAD
rs1423695387	p.Ser90Ala	missense variant	-	NC_000003.12:g.197282729A>C	gnomAD
NCI-TCGA novel	p.Glu95Gln	missense variant	-	NC_000003.12:g.197282714C>G	NCI-TCGA
rs1474220632	p.Thr96Ala	missense variant	-	NC_000003.12:g.197282711T>C	TOPMed,gnomAD
rs1158696537	p.Thr96Arg	missense variant	-	NC_000003.12:g.197282710G>C	TOPMed
rs150727151	p.Pro98Gln	missense variant	-	NC_000003.12:g.197282704G>T	ESP,ExAC,gnomAD
rs758845252	p.Ser99Gly	missense variant	-	NC_000003.12:g.197282702T>C	ExAC,gnomAD
rs750875663	p.Ser100Gly	missense variant	-	NC_000003.12:g.197282699T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser100Cys	missense variant	-	NC_000003.12:g.197282699T>A	NCI-TCGA
COSM3847183	p.Leu101Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197282696G>T	NCI-TCGA Cosmic
rs779415338	p.Ser102Arg	missense variant	-	NC_000003.12:g.197282691G>T	ExAC,TOPMed,gnomAD
rs755832669	p.Pro103Arg	missense variant	-	NC_000003.12:g.197282689G>C	ExAC,gnomAD
rs141505047	p.Glu106Gln	missense variant	-	NC_000003.12:g.197282681C>G	ESP
rs1218460472	p.Lys107Glu	missense variant	-	NC_000003.12:g.197194589T>C	gnomAD
rs765874369	p.Tyr110His	missense variant	-	NC_000003.12:g.197194580A>G	ExAC,gnomAD
rs750308804	p.Asp112Gly	missense variant	-	NC_000003.12:g.197194573T>C	ExAC,gnomAD
COSM4863202	p.Asp112Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197194574C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu113AspSerTerGlnTerTerIle	stop gained	-	NC_000003.12:g.197194569_197194570insATTTATTATTGTTATGAA	NCI-TCGA
NCI-TCGA novel	p.Glu113AspPheSerTerUnk	stop gained	-	NC_000003.12:g.197194569_197194570insATTTATTATTGTTATGAATTACATATTACTTTTG	NCI-TCGA
NCI-TCGA novel	p.Glu113Lys	missense variant	-	NC_000003.12:g.197194571C>T	NCI-TCGA
NCI-TCGA novel	p.Glu113AspPheSerTerUnk	frameshift	-	NC_000003.12:g.197194569_197194570insATTTATTATTG	NCI-TCGA
rs765108328	p.Thr115Ala	missense variant	-	NC_000003.12:g.197194565T>C	ExAC,gnomAD
rs1227276096	p.Thr115Lys	missense variant	-	NC_000003.12:g.197194564G>T	TOPMed
rs761445608	p.Pro116Ser	missense variant	-	NC_000003.12:g.197194562G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro116Leu	missense variant	-	NC_000003.12:g.197194561G>A	NCI-TCGA
rs776924302	p.Pro117Ser	missense variant	-	NC_000003.12:g.197194559G>A	ExAC,gnomAD
rs1273217820	p.Pro117Leu	missense variant	-	NC_000003.12:g.197194558G>A	TOPMed
rs367578142	p.Glu119Lys	missense variant	-	NC_000003.12:g.197194553C>T	ESP,ExAC,TOPMed,gnomAD
rs1419972113	p.Glu119Gly	missense variant	-	NC_000003.12:g.197194552T>C	gnomAD
rs1157450269	p.His120Arg	missense variant	-	NC_000003.12:g.197194549T>C	gnomAD
rs1426491971	p.Gln124His	missense variant	-	NC_000003.12:g.197194536T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln124Ter	stop gained	-	NC_000003.12:g.197194538G>A	NCI-TCGA
rs527829647	p.Ile125Thr	missense variant	-	NC_000003.12:g.197194534A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs772257843	p.Asn127Lys	missense variant	-	NC_000003.12:g.197194527A>C	ExAC,gnomAD
rs895110045	p.Val129Met	missense variant	-	NC_000003.12:g.197194523C>T	TOPMed,gnomAD
rs1488117119	p.Ile130Val	missense variant	-	NC_000003.12:g.197194520T>C	gnomAD
rs1241297752	p.Gly131Ala	missense variant	-	NC_000003.12:g.197194516C>G	gnomAD
rs1038182821	p.Pro132Thr	missense variant	-	NC_000003.12:g.197194514G>T	TOPMed,gnomAD
rs746399513	p.Pro132Leu	missense variant	-	NC_000003.12:g.197194513G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu133Ala	missense variant	-	NC_000003.12:g.197194510T>G	NCI-TCGA
COSM3408555	p.Glu133Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197194511C>G	NCI-TCGA Cosmic
rs1279269818	p.Val135Ala	missense variant	-	NC_000003.12:g.197194504A>G	gnomAD
NCI-TCGA novel	p.Val135Ile	missense variant	-	NC_000003.12:g.197194505C>T	NCI-TCGA
rs774682995	p.Ser138Leu	missense variant	-	NC_000003.12:g.197194495G>A	ExAC,TOPMed,gnomAD
rs376212918	p.Glu139Lys	missense variant	-	NC_000003.12:g.197194493C>T	ESP,ExAC,gnomAD
rs1802668	p.Lys140Arg	missense variant	-	NC_000003.12:g.197194489T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142567887	p.Ser143Pro	missense variant	-	NC_000003.12:g.197194481A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779558194	p.Glu144Lys	missense variant	-	NC_000003.12:g.197194478C>T	ExAC,TOPMed,gnomAD
rs757859955	p.Glu144Val	missense variant	-	NC_000003.12:g.197194477T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu144Asp	missense variant	-	NC_000003.12:g.197194476C>A	NCI-TCGA
COSM274792	p.Asn147Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197194468T>G	NCI-TCGA Cosmic
rs574735093	p.Val152Ala	missense variant	-	NC_000003.12:g.197194453A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1468742252	p.His154Gln	missense variant	-	NC_000003.12:g.197194446A>C	gnomAD
rs1425849751	p.Ser155Phe	missense variant	-	NC_000003.12:g.197194444G>A	gnomAD
rs1171553339	p.His156Tyr	missense variant	-	NC_000003.12:g.197194442G>A	TOPMed,gnomAD
rs765023734	p.His156Arg	missense variant	-	NC_000003.12:g.197194441T>C	ExAC,TOPMed,gnomAD
rs1408781378	p.Pro159Leu	missense variant	-	NC_000003.12:g.197194432G>A	TOPMed
rs1260212786	p.Pro159Ser	missense variant	-	NC_000003.12:g.197194433G>A	gnomAD
rs757204806	p.Ile160Met	missense variant	-	NC_000003.12:g.197194428T>C	ExAC,gnomAD
rs1293382424	p.Ile160Val	missense variant	-	NC_000003.12:g.197194430T>C	TOPMed
rs201671220	p.Pro162Leu	missense variant	-	NC_000003.12:g.197161737G>A	1000Genomes,gnomAD
rs200061367	p.Thr163Ile	missense variant	-	NC_000003.12:g.197161734G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1478596224	p.Glu164Asp	missense variant	-	NC_000003.12:g.197161730T>A	gnomAD
COSM1043148	p.Ala165Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197161729C>A	NCI-TCGA Cosmic
rs763423341	p.Ala165Thr	missense variant	-	NC_000003.12:g.197161729C>T	ExAC,gnomAD
rs535866775	p.Val166Ile	missense variant	-	NC_000003.12:g.197161726C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770144997	p.Leu167Phe	missense variant	-	NC_000003.12:g.197161723G>A	ExAC,gnomAD
rs762105289	p.Ser169Phe	missense variant	-	NC_000003.12:g.197161716G>A	ExAC,TOPMed,gnomAD
rs148027113	p.Pro170His	missense variant	-	NC_000003.12:g.197161713G>T	ESP,ExAC,TOPMed,gnomAD
rs148027113	p.Pro170Leu	missense variant	-	NC_000003.12:g.197161713G>A	ESP,ExAC,TOPMed,gnomAD
rs745500685	p.Pro171Ser	missense variant	-	NC_000003.12:g.197161711G>A	ExAC,gnomAD
COSM4116489	p.Val173Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197161704A>G	NCI-TCGA Cosmic
rs375133714	p.Pro174Leu	missense variant	-	NC_000003.12:g.197161701G>A	ESP,ExAC,TOPMed,gnomAD
rs375133714	p.Pro174Arg	missense variant	-	NC_000003.12:g.197161701G>C	ESP,ExAC,TOPMed,gnomAD
rs1261261367	p.Pro174Ser	missense variant	-	NC_000003.12:g.197161702G>A	gnomAD
rs770426015	p.Val175Met	missense variant	-	NC_000003.12:g.197161699C>T	ExAC,TOPMed,gnomAD
rs1321490916	p.Ile176Thr	missense variant	-	NC_000003.12:g.197161695A>G	TOPMed
rs749215360	p.Val178Ala	missense variant	-	NC_000003.12:g.197161689A>G	ExAC,gnomAD
rs755987767	p.Leu179Pro	missense variant	-	NC_000003.12:g.197161686A>G	ExAC,gnomAD
rs781133340	p.Val181Phe	missense variant	-	NC_000003.12:g.197161681C>A	ExAC,TOPMed,gnomAD
rs781133340	p.Val181Leu	missense variant	-	NC_000003.12:g.197161681C>G	ExAC,TOPMed,gnomAD
rs1285541064	p.Ala183Gly	missense variant	-	NC_000003.12:g.197161674G>C	TOPMed
rs987384122	p.Glu184Gly	missense variant	-	NC_000003.12:g.197161671T>C	TOPMed
rs755197938	p.Thr186Ala	missense variant	-	NC_000003.12:g.197161666T>C	ExAC,gnomAD
rs751787367	p.Thr186Asn	missense variant	-	NC_000003.12:g.197161665G>T	ExAC,TOPMed,gnomAD
rs1334106239	p.Val187Ile	missense variant	-	NC_000003.12:g.197161663C>T	gnomAD
rs377176801	p.Ile192Val	missense variant	-	NC_000003.12:g.197161648T>C	ESP,ExAC,TOPMed,gnomAD
rs765788178	p.Pro193Ser	missense variant	-	NC_000003.12:g.197161645G>A	ExAC,gnomAD
rs765788178	p.Pro193Ala	missense variant	-	NC_000003.12:g.197161645G>C	ExAC,gnomAD
rs1373068965	p.Pro193Arg	missense variant	-	NC_000003.12:g.197161644G>C	gnomAD
rs762301667	p.Gln194Leu	missense variant	-	NC_000003.12:g.197161641T>A	ExAC,gnomAD
rs1232310719	p.Asn196Tyr	missense variant	-	NC_000003.12:g.197149793T>A	gnomAD
rs1220713812	p.Pro197Leu	missense variant	-	NC_000003.12:g.197149789G>A	TOPMed
rs1179832376	p.Pro198Ser	missense variant	-	NC_000003.12:g.197149787G>A	TOPMed,gnomAD
rs1481491870	p.Pro198Leu	missense variant	-	NC_000003.12:g.197149786G>A	TOPMed
rs1179832376	p.Pro198Thr	missense variant	-	NC_000003.12:g.197149787G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro199GlnPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.197149783G>-	NCI-TCGA
rs1489345588	p.Val202Ile	missense variant	-	NC_000003.12:g.197149775C>T	gnomAD
rs750566095	p.Asp205Gly	missense variant	-	NC_000003.12:g.197149765T>C	ExAC,TOPMed,gnomAD
rs762355011	p.Leu207Ter	stop gained	-	NC_000003.12:g.197149759A>T	ExAC,gnomAD
rs762355011	p.Leu207Ser	missense variant	-	NC_000003.12:g.197149759A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu208Gln	missense variant	-	NC_000003.12:g.197149757C>G	NCI-TCGA
rs752247070	p.Tyr212Ter	stop gained	-	NC_000003.12:g.197149744dup	ExAC
rs201543784	p.Val213Ile	missense variant	-	NC_000003.12:g.197142768C>T	1000Genomes,ExAC,gnomAD
rs767745159	p.Thr216Ile	missense variant	-	NC_000003.12:g.197142758G>A	ExAC,gnomAD
rs199703315	p.Asp217Gly	missense variant	-	NC_000003.12:g.197142755T>C	1000Genomes,ExAC,gnomAD
rs946264612	p.Ala218Thr	missense variant	-	NC_000003.12:g.197142753C>T	TOPMed,gnomAD
rs764875510	p.Asp219Gly	missense variant	-	NC_000003.12:g.197142749T>C	ExAC,TOPMed,gnomAD
rs761344305	p.Tyr220Cys	missense variant	-	NC_000003.12:g.197142746T>C	ExAC,gnomAD
rs776264645	p.Glu223Gly	missense variant	-	NC_000003.12:g.197142737T>C	ExAC,gnomAD
COSM1043147	p.Glu224Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197142735C>A	NCI-TCGA Cosmic
rs562094599	p.Ile225Val	missense variant	-	NC_000003.12:g.197142732T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1213491567	p.Thr226Ile	missense variant	-	NC_000003.12:g.197142728G>A	gnomAD
rs1213491567	p.Thr226Lys	missense variant	-	NC_000003.12:g.197142728G>T	gnomAD
rs746887337	p.Leu227Val	missense variant	-	NC_000003.12:g.197142726G>C	ExAC,gnomAD
rs759277835	p.Gly230Arg	missense variant	-	NC_000003.12:g.197140264C>T	TOPMed
NCI-TCGA novel	p.Phe236Leu	missense variant	-	NC_000003.12:g.197140244G>T	NCI-TCGA
rs1007791071	p.Ile238Val	missense variant	-	NC_000003.12:g.197140240T>C	gnomAD
rs1049949665	p.Gly240Glu	missense variant	-	NC_000003.12:g.197140233C>T	TOPMed
COSM4116487	p.Gly240Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197140234C>A	NCI-TCGA Cosmic
rs888923932	p.Thr242Met	missense variant	-	NC_000003.12:g.197140227G>A	TOPMed,gnomAD
rs753426047	p.Asp243Tyr	missense variant	-	NC_000003.12:g.197140225C>A	ExAC,gnomAD
rs753426047	p.Asp243Asn	missense variant	-	NC_000003.12:g.197140225C>T	ExAC,gnomAD
COSM1485061	p.Asn244Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197140221T>G	NCI-TCGA Cosmic
rs763501037	p.Pro245Leu	missense variant	-	NC_000003.12:g.197140218G>A	ExAC,gnomAD
rs760676689	p.His246Asn	missense variant	-	NC_000003.12:g.197140216G>T	ExAC,TOPMed,gnomAD
rs1298827905	p.Ile247Phe	missense variant	-	NC_000003.12:g.197140213T>A	gnomAD
rs1461669803	p.Asp250Glu	missense variant	-	NC_000003.12:g.197140202G>T	gnomAD
rs775224987	p.Ile255Val	missense variant	-	NC_000003.12:g.197140189T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys257Asn	missense variant	-	NC_000003.12:g.197140181T>G	NCI-TCGA
rs771932690	p.Ile258Val	missense variant	-	NC_000003.12:g.197140180T>C	ExAC,TOPMed,gnomAD
rs1230328994	p.Thr260Ile	missense variant	-	NC_000003.12:g.197140173G>A	TOPMed
NCI-TCGA novel	p.Thr260Lys	missense variant	-	NC_000003.12:g.197140173G>T	NCI-TCGA
COSM4677740	p.Thr260Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197140174T>C	NCI-TCGA Cosmic
rs759278032	p.Gly261Val	missense variant	-	NC_000003.12:g.197140170C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly262Ter	stop gained	-	NC_000003.12:g.197140168C>A	NCI-TCGA
rs1279456377	p.Ala265Thr	missense variant	-	NC_000003.12:g.197140159C>T	TOPMed
rs200110103	p.Asp267Gly	missense variant	-	NC_000003.12:g.197140152T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs777964838	p.Gly268Arg	missense variant	-	NC_000003.12:g.197140150C>T	ExAC,gnomAD
rs748689354	p.Arg271Trp	missense variant	-	NC_000003.12:g.197140141G>A	ExAC,TOPMed,gnomAD
rs781507202	p.Arg271Gln	missense variant	-	NC_000003.12:g.197140140C>T	ExAC,TOPMed,gnomAD
rs748123958	p.Val272Ala	missense variant	-	NC_000003.12:g.197138389A>G	ExAC,gnomAD
rs200751878	p.Asn273Ser	missense variant	-	NC_000003.12:g.197138386T>C	ExAC,gnomAD
rs200387323	p.Cys275Arg	missense variant	-	NC_000003.12:g.197138381A>G	1000Genomes,gnomAD
rs200387323	p.Cys275Ser	missense variant	-	NC_000003.12:g.197138381A>T	1000Genomes,gnomAD
rs1134986	p.Arg278Gln	missense variant	-	NC_000003.12:g.197138371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg278Ter	stop gained	-	NC_000003.12:g.197138372G>A	NCI-TCGA
rs375786565	p.Val284Ile	missense variant	-	NC_000003.12:g.197138354C>T	ESP,gnomAD
rs375786565	p.Val284Leu	missense variant	-	NC_000003.12:g.197138354C>G	ESP,gnomAD
rs545509250	p.Arg285His	missense variant	-	NC_000003.12:g.197138350C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1452989685	p.Arg285Cys	missense variant	-	NC_000003.12:g.197138351G>A	gnomAD
rs545509250	p.Arg285Leu	missense variant	-	NC_000003.12:g.197138350C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1178053626	p.Asp286Asn	missense variant	-	NC_000003.12:g.197138348C>T	TOPMed,gnomAD
rs1178053626	p.Asp286Tyr	missense variant	-	NC_000003.12:g.197138348C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp286Ala	missense variant	-	NC_000003.12:g.197138347T>G	NCI-TCGA
rs1197166530	p.Lys291Glu	missense variant	-	NC_000003.12:g.197138333T>C	gnomAD
rs752188815	p.Val293Phe	missense variant	-	NC_000003.12:g.197138327C>A	ExAC,gnomAD
rs2271822	p.Ala295Val	missense variant	-	NC_000003.12:g.197138320G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753983939	p.Ala295Thr	missense variant	-	NC_000003.12:g.197138321C>T	ExAC,TOPMed,gnomAD
rs762612391	p.Lys297Arg	missense variant	-	NC_000003.12:g.197138314T>C	ExAC,gnomAD
rs765421513	p.Glu298Val	missense variant	-	NC_000003.12:g.197138311T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser301Tyr	missense variant	-	NC_000003.12:g.197138302G>T	NCI-TCGA
rs776911663	p.Ile302Val	missense variant	-	NC_000003.12:g.197138300T>C	ExAC,gnomAD
rs1412517617	p.Val303Ile	missense variant	-	NC_000003.12:g.197138297C>T	TOPMed
NCI-TCGA novel	p.Val303Ala	missense variant	-	NC_000003.12:g.197138296A>G	NCI-TCGA
rs768801019	p.Arg304His	missense variant	-	NC_000003.12:g.197138293C>T	ExAC,gnomAD
rs201153255	p.Arg304Cys	missense variant	-	NC_000003.12:g.197138294G>A	1000Genomes,ESP,TOPMed,gnomAD
rs566667266	p.Val307Ile	missense variant	-	NC_000003.12:g.197138285C>T	1000Genomes
rs914853180	p.Lys308Asn	missense variant	-	NC_000003.12:g.197138280T>G	TOPMed,gnomAD
rs1398041564	p.Arg309Thr	missense variant	-	NC_000003.12:g.197138278C>G	TOPMed
rs1445894831	p.Arg310Lys	missense variant	-	NC_000003.12:g.197138275C>T	TOPMed
rs1170396545	p.Pro312Leu	missense variant	-	NC_000003.12:g.197138269G>A	gnomAD
rs746268013	p.Val313Ala	missense variant	-	NC_000003.12:g.197138266A>G	ExAC,gnomAD
rs772510206	p.Val313Met	missense variant	-	NC_000003.12:g.197138267C>T	ExAC,gnomAD
rs772510206	p.Val313Leu	missense variant	-	NC_000003.12:g.197138267C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser314Ala	missense variant	-	NC_000003.12:g.197138264A>C	NCI-TCGA
NCI-TCGA novel	p.Ile317AsnPheSerTerUnk	frameshift	-	NC_000003.12:g.197138254_197138255insT	NCI-TCGA
rs1245562701	p.Met318Val	missense variant	-	NC_000003.12:g.197138252T>C	gnomAD
rs1337187142	p.Ile320Val	missense variant	-	NC_000003.12:g.197138246T>C	TOPMed
rs780691676	p.Leu322Ile	missense variant	-	NC_000003.12:g.197138240G>T	ExAC,gnomAD
rs754416713	p.Leu322Pro	missense variant	-	NC_000003.12:g.197138239A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu322Phe	missense variant	-	NC_000003.12:g.197138240G>A	NCI-TCGA
rs371237523	p.Gly325Ser	missense variant	-	NC_000003.12:g.197138231C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly325Val	missense variant	-	NC_000003.12:g.197138230C>A	NCI-TCGA
rs554805815	p.Pro326Ser	missense variant	-	NC_000003.12:g.197138228G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1319458820	p.Ser332Asn	missense variant	-	NC_000003.12:g.197136666C>T	TOPMed
COSM4861387	p.Ser332Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197136667T>C	NCI-TCGA Cosmic
rs1196340610	p.Gly335Glu	missense variant	-	NC_000003.12:g.197136657C>T	TOPMed
rs1293689559	p.Gly336Asp	missense variant	-	NC_000003.12:g.197136654C>T	gnomAD
rs1246540630	p.Val337Ile	missense variant	-	NC_000003.12:g.197136652C>T	gnomAD
rs779539639	p.Gln340His	missense variant	-	NC_000003.12:g.197136641C>A	ExAC,TOPMed,gnomAD
rs1443802262	p.Gln340Glu	missense variant	-	NC_000003.12:g.197136643G>C	TOPMed,gnomAD
rs779539639	p.Gln340His	missense variant	-	NC_000003.12:g.197136641C>G	ExAC,TOPMed,gnomAD
rs1443802262	p.Gln340Ter	stop gained	-	NC_000003.12:g.197136643G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn346Asp	missense variant	-	NC_000003.12:g.197136625T>C	NCI-TCGA
rs1367779581	p.Ser347Gly	missense variant	-	NC_000003.12:g.197136622T>C	gnomAD
rs147695740	p.Ser347Asn	missense variant	-	NC_000003.12:g.197136621C>T	ESP,ExAC,TOPMed,gnomAD
rs1424577122	p.Ile348Val	missense variant	-	NC_000003.12:g.197136619T>C	gnomAD
rs369164854	p.Tyr349Asn	missense variant	-	NC_000003.12:g.197136616A>T	ESP,ExAC,TOPMed,gnomAD
rs748424022	p.Tyr349Cys	missense variant	-	NC_000003.12:g.197136615T>C	ExAC,gnomAD
rs1478869912	p.Lys352Gln	missense variant	-	NC_000003.12:g.197136607T>G	TOPMed
rs754136465	p.Ile353Val	missense variant	-	NC_000003.12:g.197136604T>C	ExAC,gnomAD
rs1363326788	p.Gly356Val	missense variant	-	NC_000003.12:g.197136594C>A	gnomAD
rs1400660791	p.Ala358Thr	missense variant	-	NC_000003.12:g.197136589C>T	gnomAD
rs1168555834	p.His360Gln	missense variant	-	NC_000003.12:g.197136581A>C	TOPMed
rs764460628	p.His360Arg	missense variant	-	NC_000003.12:g.197136582T>C	ExAC,gnomAD
rs866931281	p.Gly363Asp	missense variant	-	NC_000003.12:g.197136573C>T	gnomAD
rs1354190896	p.Ile367Val	missense variant	-	NC_000003.12:g.197136562T>C	TOPMed
COSM1422082	p.Asp369Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197136556C>A	NCI-TCGA Cosmic
rs1287689935	p.Lys370Thr	missense variant	-	NC_000003.12:g.197136552T>G	TOPMed,gnomAD
rs925129156	p.Ala373Val	missense variant	-	NC_000003.12:g.197136543G>A	TOPMed,gnomAD
rs767620325	p.Ala373Ser	missense variant	-	NC_000003.12:g.197136544C>A	ExAC,TOPMed,gnomAD
rs145398232	p.Asn376Asp	missense variant	-	NC_000003.12:g.197130665T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn376LeuPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.197130665_197130666insTGCTTAA	NCI-TCGA
rs151290819	p.Val377Leu	missense variant	-	NC_000003.12:g.197130662C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151290819	p.Val377Ile	missense variant	-	NC_000003.12:g.197130662C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1217272197	p.Val382Ile	missense variant	-	NC_000003.12:g.197130647C>T	TOPMed
rs749214941	p.Glu386Ala	missense variant	-	NC_000003.12:g.197130634T>G	gnomAD
rs763415685	p.Glu386Lys	missense variant	-	NC_000003.12:g.197130635C>T	ExAC,gnomAD
rs1263238877	p.Ala387Thr	missense variant	-	NC_000003.12:g.197130632C>T	gnomAD
rs760326904	p.Ala390Val	missense variant	-	NC_000003.12:g.197130622G>A	ExAC,TOPMed,gnomAD
rs1029549769	p.Thr394Ile	missense variant	-	NC_000003.12:g.197130610G>A	TOPMed
rs571186311	p.Ser395Cys	missense variant	-	NC_000003.12:g.197130607G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs376762712	p.Ser395Pro	missense variant	-	NC_000003.12:g.197130608A>G	ESP,TOPMed,gnomAD
rs571186311	p.Ser395Tyr	missense variant	-	NC_000003.12:g.197130607G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1485060	p.Asp396Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197130605C>A	NCI-TCGA Cosmic
rs936497033	p.Phe397Leu	missense variant	-	NC_000003.12:g.197130600A>T	gnomAD
rs936497033	p.Phe397Leu	missense variant	-	NC_000003.12:g.197130600A>C	gnomAD
rs749224526	p.Lys401Ile	missense variant	-	NC_000003.12:g.197130589T>A	ExAC,gnomAD
rs1446080908	p.Val402Leu	missense variant	-	NC_000003.12:g.197130587C>A	gnomAD
NCI-TCGA novel	p.Ala403Val	missense variant	-	NC_000003.12:g.197130583G>A	NCI-TCGA
NCI-TCGA novel	p.Lys404AsnPheSerTerUnk	frameshift	-	NC_000003.12:g.197130579T>-	NCI-TCGA
rs891630940	p.Pro405Thr	missense variant	-	NC_000003.12:g.197130578G>T	TOPMed,gnomAD
rs1416145145	p.Thr406Ile	missense variant	-	NC_000003.12:g.197130574G>A	TOPMed
rs777723301	p.Thr406Ala	missense variant	-	NC_000003.12:g.197130575T>C	ExAC,gnomAD
rs748348666	p.Met408Thr	missense variant	-	NC_000003.12:g.197130568A>G	ExAC,gnomAD
rs1446380068	p.Tyr409Phe	missense variant	-	NC_000003.12:g.197130565T>A	gnomAD
rs781424060	p.Met410Val	missense variant	-	NC_000003.12:g.197130563T>C	ExAC,gnomAD
rs1303784434	p.Asp412Asn	missense variant	-	NC_000003.12:g.197130557C>T	gnomAD
rs1220046530	p.Gly413Ser	missense variant	-	NC_000003.12:g.197130554C>T	gnomAD
rs201830088	p.Tyr414Ser	missense variant	-	NC_000003.12:g.197130550T>G	ExAC,TOPMed,gnomAD
rs201830088	p.Tyr414Cys	missense variant	-	NC_000003.12:g.197130550T>C	ExAC,TOPMed,gnomAD
rs1482059233	p.Ala415Val	missense variant	-	NC_000003.12:g.197130547G>A	gnomAD
rs1204813889	p.Asp418Asn	missense variant	-	NC_000003.12:g.197130539C>T	gnomAD
rs1204813889	p.Asp418Tyr	missense variant	-	NC_000003.12:g.197130539C>A	gnomAD
rs1341836500	p.Ile419Thr	missense variant	-	NC_000003.12:g.197130535A>G	gnomAD
rs766361825	p.Asn421Ser	missense variant	-	NC_000003.12:g.197130529T>C	ExAC,gnomAD
rs758922572	p.Ser422Pro	missense variant	-	NC_000003.12:g.197130527A>G	ExAC,gnomAD
rs1456338992	p.Ser423Ala	missense variant	-	NC_000003.12:g.197119528A>C	gnomAD
rs556139731	p.Ser423Phe	missense variant	-	NC_000003.12:g.197119527G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs556139731	p.Ser423Tyr	missense variant	-	NC_000003.12:g.197119527G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM446274	p.Gln425Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197119522G>A	NCI-TCGA Cosmic
rs759238456	p.Pro426Thr	missense variant	-	NC_000003.12:g.197119519G>T	ExAC,gnomAD
rs773807571	p.Val427Ile	missense variant	-	NC_000003.12:g.197119516C>T	ExAC,gnomAD
rs766016229	p.Asp428Val	missense variant	-	NC_000003.12:g.197119512T>A	ExAC,gnomAD
rs1202000734	p.Asp428His	missense variant	-	NC_000003.12:g.197119513C>G	gnomAD
rs1267124914	p.Asn429Thr	missense variant	-	NC_000003.12:g.197119509T>G	gnomAD
rs143253568	p.His430Tyr	missense variant	-	NC_000003.12:g.197119507G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201300547	p.Ser432Arg	missense variant	-	NC_000003.12:g.197119501T>G	ExAC,TOPMed,gnomAD
COSM4116485	p.Ser432Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197119501T>C	NCI-TCGA Cosmic
rs776543439	p.Gln439His	missense variant	-	NC_000003.12:g.197119478C>A	ExAC,gnomAD
rs558256686	p.Gln439Glu	missense variant	-	NC_000003.12:g.197119480G>C	1000Genomes
rs1026224891	p.Ala442Glu	missense variant	-	NC_000003.12:g.197119470G>T	TOPMed,gnomAD
rs1026224891	p.Ala442Val	missense variant	-	NC_000003.12:g.197119470G>A	TOPMed,gnomAD
rs1320612581	p.Tyr447Cys	missense variant	-	NC_000003.12:g.197119455T>C	gnomAD
rs1456285584	p.Ser448Thr	missense variant	-	NC_000003.12:g.197119453A>T	gnomAD
rs772262678	p.Pro449Ser	missense variant	-	NC_000003.12:g.197119450G>A	ExAC,gnomAD
rs1453482837	p.Val450Ile	missense variant	-	NC_000003.12:g.197119447C>T	TOPMed
rs898564562	p.Ser451Cys	missense variant	-	NC_000003.12:g.197119443G>C	TOPMed,gnomAD
rs745989035	p.Val454Ile	missense variant	-	NC_000003.12:g.197119435C>T	ExAC,gnomAD
rs778961421	p.Gly456Arg	missense variant	-	NC_000003.12:g.197119429C>G	ExAC,gnomAD
rs1430793106	p.Asp457Val	missense variant	-	NC_000003.12:g.197119425T>A	gnomAD
rs1197270598	p.Asp457Asn	missense variant	-	NC_000003.12:g.197119426C>T	gnomAD
rs911189133	p.Asp458Asn	missense variant	-	NC_000003.12:g.197119423C>T	gnomAD
rs911189133	p.Asp458Tyr	missense variant	-	NC_000003.12:g.197119423C>A	gnomAD
NCI-TCGA novel	p.Arg462Gly	missense variant	-	NC_000003.12:g.197119411T>C	NCI-TCGA
COSM1645864	p.Arg462Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197116083C>G	NCI-TCGA Cosmic
rs772348654	p.Pro464Arg	missense variant	-	NC_000003.12:g.197116078G>C	ExAC,gnomAD
rs746076966	p.Arg465Gly	missense variant	-	NC_000003.12:g.197116076T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg465Ile	missense variant	-	NC_000003.12:g.197116075C>A	NCI-TCGA
rs142394314	p.Val467Leu	missense variant	-	NC_000003.12:g.197116070C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770848633	p.Val468Phe	missense variant	-	NC_000003.12:g.197116067C>A	ExAC,TOPMed,gnomAD
rs770848633	p.Val468Ile	missense variant	-	NC_000003.12:g.197116067C>T	ExAC,TOPMed,gnomAD
rs770848633	p.Val468Leu	missense variant	-	NC_000003.12:g.197116067C>G	ExAC,TOPMed,gnomAD
rs749832343	p.His470Pro	missense variant	-	NC_000003.12:g.197116060T>G	ExAC,gnomAD
rs778091118	p.Arg471His	missense variant	-	NC_000003.12:g.197116057C>T	ExAC,gnomAD
rs200331171	p.Thr474Met	missense variant	-	NC_000003.12:g.197116048G>A	ExAC,TOPMed,gnomAD
rs200331171	p.Thr474Arg	missense variant	-	NC_000003.12:g.197116048G>C	ExAC,TOPMed,gnomAD
rs148803946	p.Thr474Ala	missense variant	-	NC_000003.12:g.197116049T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr474ArgPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.197116048_197116049insTATCTTCCCTC	NCI-TCGA
COSM4390998	p.Phe478Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197116035G>C	NCI-TCGA Cosmic
rs764837654	p.Val481Leu	missense variant	-	NC_000003.12:g.197116028C>A	ExAC,gnomAD
COSM6164170	p.Gly482Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197116025C>A	NCI-TCGA Cosmic
rs761182067	p.Glu484Lys	missense variant	-	NC_000003.12:g.197116019C>T	ExAC,gnomAD
rs763982642	p.Ile489Val	missense variant	-	NC_000003.12:g.197116004T>C	ExAC,gnomAD
rs1185942783	p.Phe490Cys	missense variant	-	NC_000003.12:g.197116000A>C	TOPMed
rs1371485177	p.Ile491Leu	missense variant	-	NC_000003.12:g.197115998T>G	gnomAD
rs1307879103	p.Ile491Thr	missense variant	-	NC_000003.12:g.197115997A>G	gnomAD
rs760602538	p.Ser492Pro	missense variant	-	NC_000003.12:g.197115995A>G	ExAC,gnomAD
rs775322401	p.Ile494Val	missense variant	-	NC_000003.12:g.197115989T>C	ExAC,TOPMed,gnomAD
rs1163879679	p.Ile494Met	missense variant	-	NC_000003.12:g.197115987G>C	gnomAD
rs1457394848	p.Gly497Arg	missense variant	-	NC_000003.12:g.197115980C>T	TOPMed
rs1375333660	p.Gly498Arg	missense variant	-	NC_000003.12:g.197115977C>T	gnomAD
NCI-TCGA novel	p.Gly498Ter	stop gained	-	NC_000003.12:g.197115977C>A	NCI-TCGA
COSM3591923	p.Gly498Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197115976C>T	NCI-TCGA Cosmic
rs201908156	p.Pro499Ser	missense variant	-	NC_000003.12:g.197115974G>A	1000Genomes,ExAC,gnomAD
rs774514649	p.Ala500Val	missense variant	-	NC_000003.12:g.197115970G>A	ExAC,gnomAD
rs1252259293	p.Glu505Lys	missense variant	-	NC_000003.12:g.197115956C>T	gnomAD
rs749375973	p.Glu505Gly	missense variant	-	NC_000003.12:g.197115955T>C	ExAC
rs1482015206	p.Arg507Lys	missense variant	-	NC_000003.12:g.197115949C>T	gnomAD
rs770267924	p.Asp510Tyr	missense variant	-	NC_000003.12:g.197115941C>A	ExAC,gnomAD
rs748649814	p.Arg511His	missense variant	-	NC_000003.12:g.197115937C>T	ExAC,TOPMed,gnomAD
COSM1043146	p.Arg511Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197115938G>T	NCI-TCGA Cosmic
rs1210385820	p.Arg511Cys	missense variant	-	NC_000003.12:g.197115938G>A	gnomAD
rs1353102906	p.Ile513Met	missense variant	-	NC_000003.12:g.197115930T>C	gnomAD
rs781697856	p.Ile513Thr	missense variant	-	NC_000003.12:g.197115931A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser514Leu	missense variant	-	NC_000003.12:g.197115928G>A	NCI-TCGA
NCI-TCGA novel	p.Ser514Ter	stop gained	-	NC_000003.12:g.197115928G>T	NCI-TCGA
rs767223219	p.Ser517Asn	missense variant	-	NC_000003.12:g.197104998C>T	ExAC,TOPMed,gnomAD
rs1388030280	p.Ser517Gly	missense variant	-	NC_000003.12:g.197104999T>C	gnomAD
rs1055878288	p.Asp519Asn	missense variant	-	NC_000003.12:g.197104993C>T	TOPMed
rs777154455	p.Leu520Phe	missense variant	-	NC_000003.12:g.197104990G>A	ExAC,gnomAD
rs1231577930	p.Ala523Asp	missense variant	-	NC_000003.12:g.197104980G>T	TOPMed,gnomAD
rs1222231682	p.Ser524Thr	missense variant	-	NC_000003.12:g.197104977C>G	TOPMed
rs1275889907	p.His525Arg	missense variant	-	NC_000003.12:g.197104974T>C	TOPMed
rs755582939	p.Gln527His	missense variant	-	NC_000003.12:g.197104967C>A	ExAC,TOPMed,gnomAD
rs1173000501	p.Gln527Ter	stop gained	-	NC_000003.12:g.197104969G>A	gnomAD
rs1175538061	p.Ala529Val	missense variant	-	NC_000003.12:g.197104962G>A	TOPMed
rs1249967459	p.Ala530Pro	missense variant	-	NC_000003.12:g.197104960C>G	TOPMed
rs1354882410	p.Ala531Ser	missense variant	-	NC_000003.12:g.197104957C>A	gnomAD
rs1424580938	p.Asn534His	missense variant	-	NC_000003.12:g.197104948T>G	TOPMed
rs937363240	p.Gln537Pro	missense variant	-	NC_000003.12:g.197104938T>G	TOPMed
rs754879193	p.Ala538Val	missense variant	-	NC_000003.12:g.197104935G>A	ExAC,gnomAD
rs767490280	p.Ala538Thr	missense variant	-	NC_000003.12:g.197104936C>T	ExAC,gnomAD
COSM292637	p.Thr540Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197104929G>T	NCI-TCGA Cosmic
rs1206363549	p.Ile541Val	missense variant	-	NC_000003.12:g.197104927T>C	gnomAD
rs766179146	p.Ile541Met	missense variant	-	NC_000003.12:g.197104925A>C	ExAC,TOPMed,gnomAD
rs1423689971	p.Val542Asp	missense variant	-	NC_000003.12:g.197104923A>T	TOPMed
rs747276296	p.Gln544Lys	missense variant	-	NC_000003.12:g.197104918G>T	TOPMed,gnomAD
rs750589067	p.Tyr545Cys	missense variant	-	NC_000003.12:g.197104914T>C	ExAC,gnomAD
rs765433062	p.Arg546Ter	stop gained	-	NC_000003.12:g.197104912G>A	ExAC,gnomAD
rs751111390	p.Arg546Leu	missense variant	-	NC_000003.12:g.197104911C>A	ExAC,TOPMed,gnomAD
rs751111390	p.Arg546Gln	missense variant	-	NC_000003.12:g.197104911C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg546Pro	missense variant	-	NC_000003.12:g.197104911C>G	NCI-TCGA
rs201145407	p.Pro547Ser	missense variant	-	NC_000003.12:g.197104909G>A	ExAC,TOPMed,gnomAD
COSM3591921	p.Pro547Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197104908G>A	NCI-TCGA Cosmic
rs1397296475	p.Glu548Gln	missense variant	-	NC_000003.12:g.197104906C>G	TOPMed
rs1156542597	p.Glu549Ala	missense variant	-	NC_000003.12:g.197091026T>G	TOPMed
rs1156542597	p.Glu549Gly	missense variant	-	NC_000003.12:g.197091026T>C	TOPMed
rs750165570	p.Tyr550Phe	missense variant	-	NC_000003.12:g.197091023T>A	ExAC,gnomAD
rs577786990	p.Arg552Cys	missense variant	-	NC_000003.12:g.197091018G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141544348	p.Arg552His	missense variant	-	NC_000003.12:g.197091017C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374001902	p.Ile557Met	missense variant	-	NC_000003.12:g.197091001T>C	ESP,gnomAD
rs754033983	p.Arg561Trp	missense variant	-	NC_000003.12:g.197090991G>A	ExAC,gnomAD
rs139789027	p.Glu562Asp	missense variant	-	NC_000003.12:g.197090986C>G	ESP,ExAC,TOPMed,gnomAD
rs776028025	p.Met564Thr	missense variant	-	NC_000003.12:g.197090981A>G	ExAC,gnomAD
COSM1485057	p.Met564Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197090980C>T	NCI-TCGA Cosmic
rs1206373253	p.Asn566Thr	missense variant	-	NC_000003.12:g.197090975T>G	gnomAD
rs772346988	p.Ser567Asn	missense variant	-	NC_000003.12:g.197090972C>T	ExAC,gnomAD
rs1482995804	p.Ser567Gly	missense variant	-	NC_000003.12:g.197090973T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser568Ile	missense variant	-	NC_000003.12:g.197090969C>A	NCI-TCGA
rs774665734	p.Ser573Pro	missense variant	-	NC_000003.12:g.197090955A>G	ExAC,gnomAD
COSM4116483	p.Gly574Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197090952C>A	NCI-TCGA Cosmic
rs1226816219	p.Ser575Ala	missense variant	-	NC_000003.12:g.197090949A>C	gnomAD
NCI-TCGA novel	p.Ser575Tyr	missense variant	-	NC_000003.12:g.197090948G>T	NCI-TCGA
rs769502806	p.Arg577Gln	missense variant	-	NC_000003.12:g.197090942C>T	ExAC,TOPMed,gnomAD
rs769502806	p.Arg577Pro	missense variant	-	NC_000003.12:g.197090942C>G	ExAC,TOPMed,gnomAD
rs1295215276	p.Arg577Ter	stop gained	-	NC_000003.12:g.197090943G>A	TOPMed
rs747785538	p.Ser579Arg	missense variant	-	NC_000003.12:g.197090935G>C	ExAC,TOPMed,gnomAD
rs747785538	p.Ser579Arg	missense variant	-	NC_000003.12:g.197090935G>T	ExAC,TOPMed,gnomAD
rs1276549172	p.Gln580Arg	missense variant	-	NC_000003.12:g.197090933T>C	TOPMed
rs780689736	p.Lys581Arg	missense variant	-	NC_000003.12:g.197090930T>C	ExAC,gnomAD
rs746948471	p.Arg582Pro	missense variant	-	NC_000003.12:g.197090927C>G	ExAC,TOPMed,gnomAD
rs746948471	p.Arg582Leu	missense variant	-	NC_000003.12:g.197090927C>A	ExAC,TOPMed,gnomAD
rs746948471	p.Arg582Gln	missense variant	-	NC_000003.12:g.197090927C>T	ExAC,TOPMed,gnomAD
rs974765385	p.Ser583Thr	missense variant	-	NC_000003.12:g.197090925A>T	gnomAD
rs974765385	p.Ser583Pro	missense variant	-	NC_000003.12:g.197090925A>G	gnomAD
rs1459388505	p.Leu584Ile	missense variant	-	NC_000003.12:g.197090922G>T	gnomAD
rs534430510	p.Val586Phe	missense variant	-	NC_000003.12:g.197090916C>A	1000Genomes,ExAC,gnomAD
COSM4971575	p.Arg587Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197090912C>A	NCI-TCGA Cosmic
rs1248730462	p.Ala588Thr	missense variant	-	NC_000003.12:g.197085755C>T	gnomAD
rs774753940	p.Leu589Phe	missense variant	-	NC_000003.12:g.197085752G>A	ExAC,gnomAD
rs766668748	p.Tyr592Asn	missense variant	-	NC_000003.12:g.197085743A>T	ExAC,gnomAD
rs761454680	p.Thr595Ile	missense variant	-	NC_000003.12:g.197085733G>A	ExAC,TOPMed,gnomAD
rs377679247	p.Ser598Arg	missense variant	-	NC_000003.12:g.197085723A>T	ESP,ExAC,gnomAD
rs1365297716	p.Gly599Glu	missense variant	-	NC_000003.12:g.197085721C>T	TOPMed
rs1451447881	p.Pro601Ser	missense variant	-	NC_000003.12:g.197085716G>A	TOPMed
rs1320719007	p.Leu605Met	missense variant	-	NC_000003.12:g.197085704G>T	gnomAD
rs774861097	p.Asn606Lys	missense variant	-	NC_000003.12:g.197085699G>C	ExAC,TOPMed,gnomAD
rs772108454	p.Lys608Arg	missense variant	-	NC_000003.12:g.197085694T>C	ExAC,TOPMed,gnomAD
rs142423292	p.Phe609Cys	missense variant	-	NC_000003.12:g.197085691A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374138843	p.Ile612Thr	missense variant	-	NC_000003.12:g.197085682A>G	ESP,ExAC,gnomAD
rs1172247300	p.His614Tyr	missense variant	-	NC_000003.12:g.197085677G>A	gnomAD
NCI-TCGA novel	p.His614Asn	missense variant	-	NC_000003.12:g.197085677G>T	NCI-TCGA
rs1451954843	p.Ile616Val	missense variant	-	NC_000003.12:g.197085671T>C	gnomAD
COSM4116481	p.Ile616Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197085669A>C	NCI-TCGA Cosmic
rs757079575	p.Ala618Gly	missense variant	-	NC_000003.12:g.197085664G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala618Val	missense variant	-	NC_000003.12:g.197085664G>A	NCI-TCGA
COSM5834651	p.Asp620ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197085658T>-	NCI-TCGA Cosmic
rs1188066407	p.Asp621Gly	missense variant	-	NC_000003.12:g.197085655T>C	gnomAD
COSM4898144	p.Glu622Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197085653C>T	NCI-TCGA Cosmic
rs1258478182	p.Ala626Val	missense variant	-	NC_000003.12:g.197085640G>A	gnomAD
rs1319090431	p.Arg627Gly	missense variant	-	NC_000003.12:g.197085638T>C	TOPMed
rs1483420316	p.Gln628Arg	missense variant	-	NC_000003.12:g.197085634T>C	gnomAD
rs756257501	p.Val629Phe	missense variant	-	NC_000003.12:g.197085632C>A	ExAC,gnomAD
rs1231984587	p.Thr630Pro	missense variant	-	NC_000003.12:g.197085629T>G	gnomAD
rs1344303376	p.Pro631Arg	missense variant	-	NC_000003.12:g.197085625G>C	gnomAD
NCI-TCGA novel	p.Asp632His	missense variant	-	NC_000003.12:g.197085623C>G	NCI-TCGA
rs752886711	p.Gly633Ser	missense variant	-	NC_000003.12:g.197085620C>T	ExAC,gnomAD
rs957670885	p.Ser635Arg	missense variant	-	NC_000003.12:g.197085612G>C	gnomAD
rs755522594	p.Asp636Asn	missense variant	-	NC_000003.12:g.197085611C>T	ExAC,TOPMed,gnomAD
rs1047907729	p.Asp636Gly	missense variant	-	NC_000003.12:g.197085610T>C	TOPMed
rs755522594	p.Asp636Tyr	missense variant	-	NC_000003.12:g.197085611C>A	ExAC,TOPMed,gnomAD
rs1251193672	p.Glu637Gly	missense variant	-	NC_000003.12:g.197085607T>C	TOPMed
rs1401942383	p.Val638Ala	missense variant	-	NC_000003.12:g.197085604A>G	gnomAD
rs751993034	p.Val638Ile	missense variant	-	NC_000003.12:g.197085605C>T	ExAC,gnomAD
rs369412843	p.Gly639Arg	missense variant	-	NC_000003.12:g.197085602C>T	ESP,gnomAD
rs369412843	p.Gly639Arg	missense variant	-	NC_000003.12:g.197085602C>G	ESP,gnomAD
rs763252926	p.Ile641Leu	missense variant	-	NC_000003.12:g.197085596T>G	ExAC,TOPMed,gnomAD
rs763252926	p.Ile641Val	missense variant	-	NC_000003.12:g.197085596T>C	ExAC,TOPMed,gnomAD
rs763877437	p.Lys644Ile	missense variant	-	NC_000003.12:g.197085586T>A	ExAC,TOPMed,gnomAD
rs1370279637	p.Arg645Cys	missense variant	-	NC_000003.12:g.197085584G>A	gnomAD
rs1188424272	p.Arg645Pro	missense variant	-	NC_000003.12:g.197085583C>G	gnomAD
rs760234405	p.Arg646Gly	missense variant	-	NC_000003.12:g.197085581T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu648Val	missense variant	-	NC_000003.12:g.197081112T>A	NCI-TCGA
rs200616174	p.Arg652Gln	missense variant	-	NC_000003.12:g.197081100C>T	ExAC,TOPMed,gnomAD
COSM1422078	p.Arg652Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197081101G>A	NCI-TCGA Cosmic
rs560145346	p.Arg654Gln	missense variant	-	NC_000003.12:g.197081094C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767076677	p.Arg654Gly	missense variant	-	NC_000003.12:g.197081095G>C	ExAC,gnomAD
rs983465160	p.Asn661Ser	missense variant	-	NC_000003.12:g.197081073T>C	TOPMed
NCI-TCGA novel	p.Asn661Ile	missense variant	-	NC_000003.12:g.197081073T>A	NCI-TCGA
rs773970168	p.Ser662Cys	missense variant	-	NC_000003.12:g.197081070G>C	ExAC,gnomAD
COSM1043144	p.Ser662Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197081070G>T	NCI-TCGA Cosmic
rs945330889	p.Thr664Met	missense variant	-	NC_000003.12:g.197081064G>A	TOPMed,gnomAD
rs775676371	p.Arg665Thr	missense variant	-	NC_000003.12:g.197081061C>G	gnomAD
rs952945407	p.Asp666Gly	missense variant	-	NC_000003.12:g.197081058T>C	TOPMed,gnomAD
rs35430440	p.Asp666Glu	missense variant	-	NC_000003.12:g.197081057A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1426738053	p.Asp666Asn	missense variant	-	NC_000003.12:g.197081059C>T	TOPMed
rs200527966	p.Glu669Gly	missense variant	-	NC_000003.12:g.197075869T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro671Ser	missense variant	-	NC_000003.12:g.197075864G>A	NCI-TCGA
rs774486492	p.Asp672Asn	missense variant	-	NC_000003.12:g.197075861C>T	ExAC,gnomAD
rs201276458	p.Met674Thr	missense variant	-	NC_000003.12:g.197075854A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly675Glu	missense variant	-	NC_000003.12:g.197075851C>T	NCI-TCGA
rs1322528178	p.Ser676Leu	missense variant	-	NC_000003.12:g.197075848G>A	TOPMed
rs1209314980	p.Gly678Asp	missense variant	-	NC_000003.12:g.197075842C>T	TOPMed
rs759793588	p.Lys680Asn	missense variant	-	NC_000003.12:g.197069259C>G	ExAC,gnomAD
rs774306039	p.Thr683Ile	missense variant	-	NC_000003.12:g.197069251G>A	ExAC,TOPMed,gnomAD
rs749786841	p.Ser684Tyr	missense variant	-	NC_000003.12:g.197069248G>T	ExAC,TOPMed,gnomAD
rs749786841	p.Ser684Cys	missense variant	-	NC_000003.12:g.197069248G>C	ExAC,TOPMed,gnomAD
rs770973751	p.Ser684Thr	missense variant	-	NC_000003.12:g.197069249A>T	ExAC,TOPMed,gnomAD
rs749786841	p.Ser684Phe	missense variant	-	NC_000003.12:g.197069248G>A	ExAC,TOPMed,gnomAD
rs914508596	p.Ala686Thr	missense variant	-	NC_000003.12:g.197069243C>T	gnomAD
rs773802586	p.Asp688Asn	missense variant	-	NC_000003.12:g.197069237C>T	ExAC,gnomAD
rs770401999	p.Asp688Gly	missense variant	-	NC_000003.12:g.197069236T>C	ExAC,gnomAD
rs1204784700	p.Ser689Thr	missense variant	-	NC_000003.12:g.197069233C>G	gnomAD
NCI-TCGA novel	p.Tyr693Cys	missense variant	-	NC_000003.12:g.197069221T>C	NCI-TCGA
rs74674649	p.Arg694Cys	missense variant	-	NC_000003.12:g.197069219G>A	ESP,ExAC,TOPMed,gnomAD
rs766663727	p.Gly695Asp	missense variant	-	NC_000003.12:g.197066751C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln696Glu	missense variant	-	NC_000003.12:g.197066749G>C	NCI-TCGA
rs763262067	p.Glu698Asp	missense variant	-	NC_000003.12:g.197066741T>G	ExAC
rs750587478	p.Tyr699His	missense variant	-	NC_000003.12:g.197066740A>G	ExAC,TOPMed,gnomAD
rs556519100	p.Val700Ile	missense variant	-	NC_000003.12:g.197066737C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1162588138	p.Ser702Pro	missense variant	-	NC_000003.12:g.197066731A>G	TOPMed,gnomAD
rs777149136	p.Ser702Phe	missense variant	-	NC_000003.12:g.197066730G>A	ExAC,gnomAD
rs769021454	p.Tyr703Asn	missense variant	-	NC_000003.12:g.197066728A>T	ExAC,gnomAD
rs1213912687	p.Pro705Ser	missense variant	-	NC_000003.12:g.197066722G>A	gnomAD
COSM4863120	p.Glu710Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197066706T>A	NCI-TCGA Cosmic
rs1346596857	p.Tyr713Cys	missense variant	-	NC_000003.12:g.197065803T>C	TOPMed
rs767805250	p.Thr714Ile	missense variant	-	NC_000003.12:g.197065800G>A	ExAC,gnomAD
rs1299861705	p.Arg715Ter	stop gained	-	NC_000003.12:g.197065798G>A	TOPMed
rs537841426	p.Arg715Gln	missense variant	-	NC_000003.12:g.197065797C>T	1000Genomes,ExAC,gnomAD
rs997668270	p.Val717Ala	missense variant	-	NC_000003.12:g.197065791A>G	TOPMed,gnomAD
rs148283553	p.Val717Leu	missense variant	-	NC_000003.12:g.197065792C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747730053	p.Ile719Val	missense variant	-	NC_000003.12:g.197065786T>C	ExAC,gnomAD
rs1317434987	p.Met723Val	missense variant	-	NC_000003.12:g.197065774T>C	TOPMed,gnomAD
rs1189203679	p.Met723Thr	missense variant	-	NC_000003.12:g.197065773A>G	TOPMed
COSM1308991	p.Asp725His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065768C>G	NCI-TCGA Cosmic
rs1417747792	p.Asp725Glu	missense variant	-	NC_000003.12:g.197065766G>C	gnomAD
rs1377150302	p.Arg726Ser	missense variant	-	NC_000003.12:g.197065763C>A	gnomAD
rs956412267	p.Arg726Lys	missense variant	-	NC_000003.12:g.197065764C>T	TOPMed,gnomAD
rs1163188867	p.Asp729His	missense variant	-	NC_000003.12:g.197065756C>G	gnomAD
COSM3847177	p.Asp729Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065756C>A	NCI-TCGA Cosmic
rs1174213132	p.Leu731Val	missense variant	-	NC_000003.12:g.197065750A>C	TOPMed,gnomAD
rs776000134	p.Leu731Phe	missense variant	-	NC_000003.12:g.197065748C>G	ExAC,gnomAD
rs1239607317	p.Leu731Trp	missense variant	-	NC_000003.12:g.197065749A>C	gnomAD
COSM1422076	p.Ile732Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065746A>C	NCI-TCGA Cosmic
COSM1753127	p.Ser733Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065743G>A	NCI-TCGA Cosmic
rs1180430022	p.Phe735Leu	missense variant	-	NC_000003.12:g.197065736A>T	TOPMed
rs768695952	p.Pro736His	missense variant	-	NC_000003.12:g.197065734G>T	ExAC,gnomAD
rs1392733077	p.Pro736Ala	missense variant	-	NC_000003.12:g.197065735G>C	gnomAD
rs1180060626	p.Lys738Thr	missense variant	-	NC_000003.12:g.197065728T>G	gnomAD
COSM70454	p.Lys738Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065729T>C	NCI-TCGA Cosmic
rs1191537594	p.Ser741Thr	missense variant	-	NC_000003.12:g.197065720A>T	gnomAD
rs746862777	p.His745Tyr	missense variant	-	NC_000003.12:g.197065708G>A	ExAC,gnomAD
COSM1043143	p.Thr746Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065445G>T	NCI-TCGA Cosmic
rs1390220134	p.Arg751Ter	stop gained	-	NC_000003.12:g.197065431G>A	-
rs1293745338	p.Tyr753His	missense variant	-	NC_000003.12:g.197065425A>G	gnomAD
COSM5864208	p.Asp756Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065416C>T	NCI-TCGA Cosmic
rs1200127049	p.Arg758Gly	missense variant	-	NC_000003.12:g.197065410T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Arg758Thr	missense variant	-	NC_000003.12:g.197065409C>G	NCI-TCGA
rs749406565	p.Asp759Val	missense variant	-	NC_000003.12:g.197065406T>A	ExAC,gnomAD
rs556487482	p.Asp759Asn	missense variant	-	NC_000003.12:g.197065407C>T	gnomAD
rs756095854	p.Val763Leu	missense variant	-	NC_000003.12:g.197065395C>G	ExAC,gnomAD
rs1353418226	p.Arg766Gly	missense variant	-	NC_000003.12:g.197065386T>C	gnomAD
NCI-TCGA novel	p.Arg766Ile	missense variant	-	NC_000003.12:g.197065385C>A	NCI-TCGA
NCI-TCGA novel	p.Glu767Gln	missense variant	-	NC_000003.12:g.197065383C>G	NCI-TCGA
rs752749827	p.Asp772Asn	missense variant	-	NC_000003.12:g.197065368C>T	ExAC,TOPMed,gnomAD
COSM6097220	p.Asp772Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065366A>T	NCI-TCGA Cosmic
rs1462741886	p.Ile773Val	missense variant	-	NC_000003.12:g.197065365T>C	gnomAD
rs755469316	p.Gln774Arg	missense variant	-	NC_000003.12:g.197065361T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln774GlyTerLys	stop gained	-	NC_000003.12:g.197065358_197065359insCTTTTCATC	NCI-TCGA
rs1164704741	p.Gln774Glu	missense variant	-	NC_000003.12:g.197065362G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu775Gly	insertion	-	NC_000003.12:g.197065356_197065357insACC	NCI-TCGA
rs1410733645	p.His776Arg	missense variant	-	NC_000003.12:g.197065355T>C	gnomAD
rs751977122	p.Lys777Glu	missense variant	-	NC_000003.12:g.197065353T>C	ExAC,gnomAD
rs375924494	p.Ile779Leu	missense variant	-	NC_000003.12:g.197065347T>G	ESP,ExAC,gnomAD
rs761529133	p.Ile779Thr	missense variant	-	NC_000003.12:g.197065346A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu780Lys	missense variant	-	NC_000003.12:g.197065344C>T	NCI-TCGA
rs1215777777	p.Tyr784Cys	missense variant	-	NC_000003.12:g.197065331T>C	gnomAD
rs117248178	p.Asn786Ile	missense variant	-	NC_000003.12:g.197065325T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1469114069	p.Asn786His	missense variant	-	NC_000003.12:g.197065326T>G	gnomAD
rs117248178	p.Asn786Ser	missense variant	-	NC_000003.12:g.197065325T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760144420	p.His787Leu	missense variant	-	NC_000003.12:g.197065322T>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr789Cys	missense variant	-	NC_000003.12:g.197065316T>C	NCI-TCGA
rs371009210	p.Gly790Glu	missense variant	-	NC_000003.12:g.197065313C>T	ESP,TOPMed
rs772194713	p.Ser792Arg	missense variant	-	NC_000003.12:g.197065306A>T	ExAC,TOPMed,gnomAD
rs759493254	p.Val793Leu	missense variant	-	NC_000003.12:g.197065305C>G	ExAC,gnomAD
NCI-TCGA novel	p.Val793Ile	missense variant	-	NC_000003.12:g.197065305C>T	NCI-TCGA
rs774295386	p.Gln794His	missense variant	-	NC_000003.12:g.197065300C>A	ExAC,gnomAD
rs770595172	p.Ser795Phe	missense variant	-	NC_000003.12:g.197065298G>A	ExAC,gnomAD
rs994269079	p.Val796Ile	missense variant	-	NC_000003.12:g.197065296C>T	TOPMed,gnomAD
rs994269079	p.Val796Leu	missense variant	-	NC_000003.12:g.197065296C>G	TOPMed,gnomAD
rs78190191	p.Arg797Gln	missense variant	-	NC_000003.12:g.197065292C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749544930	p.Arg797Gly	missense variant	-	NC_000003.12:g.197065293G>C	ExAC,gnomAD
COSM4116473	p.Gly803Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197059997C>T	NCI-TCGA Cosmic
rs1394624305	p.His805Tyr	missense variant	-	NC_000003.12:g.197059992G>A	gnomAD
NCI-TCGA novel	p.Leu808Phe	missense variant	-	NC_000003.12:g.197059983G>A	NCI-TCGA
rs748311393	p.Ala814Ser	missense variant	-	NC_000003.12:g.197059965C>A	ExAC,TOPMed,gnomAD
rs768680905	p.Ile815Met	missense variant	-	NC_000003.12:g.197059960T>C	ExAC,gnomAD
COSM1485055	p.Arg817Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197059955C>G	NCI-TCGA Cosmic
rs1487850364	p.Gln819Arg	missense variant	-	NC_000003.12:g.197059949T>C	gnomAD
NCI-TCGA novel	p.Ile820Ser	missense variant	-	NC_000003.12:g.197059946A>C	NCI-TCGA
rs747535008	p.Leu823Val	missense variant	-	NC_000003.12:g.197059938G>C	ExAC,gnomAD
rs746276285	p.Pro825Ala	missense variant	-	NC_000003.12:g.197059932G>C	ExAC,gnomAD
rs779280165	p.Ile826Val	missense variant	-	NC_000003.12:g.197059929T>C	ExAC,TOPMed,gnomAD
rs779280165	p.Ile826Leu	missense variant	-	NC_000003.12:g.197059929T>G	ExAC,TOPMed,gnomAD
rs769701427	p.Ile828Val	missense variant	-	NC_000003.12:g.197059923T>C	ExAC,gnomAD
rs769701427	p.Ile828Leu	missense variant	-	NC_000003.12:g.197059923T>G	ExAC,gnomAD
rs752360157	p.Ser834Phe	missense variant	-	NC_000003.12:g.197059904G>A	ExAC,gnomAD
rs1338921032	p.Met835Val	missense variant	-	NC_000003.12:g.197059902T>C	gnomAD
rs377083623	p.Met835Ile	missense variant	-	NC_000003.12:g.197059900C>T	ESP,ExAC,TOPMed,gnomAD
rs775565630	p.Asn837Ser	missense variant	-	NC_000003.12:g.197059895T>C	gnomAD
rs1374901932	p.Ile838Asn	missense variant	-	NC_000003.12:g.197059892A>T	TOPMed,gnomAD
rs754581777	p.Met839Thr	missense variant	-	NC_000003.12:g.197059889A>G	ExAC,TOPMed,gnomAD
rs754581777	p.Met839Arg	missense variant	-	NC_000003.12:g.197059889A>C	ExAC,TOPMed,gnomAD
COSM4116471	p.Glu840Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197051666T>C	NCI-TCGA Cosmic
rs754670124	p.Met841Ile	missense variant	-	NC_000003.12:g.197051662C>T	ExAC,gnomAD
rs1456199282	p.Met841Val	missense variant	-	NC_000003.12:g.197051664T>C	gnomAD
COSM1308989	p.Met841Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197051662C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys843SerPheSerTerUnk	frameshift	-	NC_000003.12:g.197051657T>-	NCI-TCGA
rs779555154	p.Arg844His	missense variant	-	NC_000003.12:g.197051654C>T	ExAC,TOPMed,gnomAD
rs751084251	p.Arg844Cys	missense variant	-	NC_000003.12:g.197051655G>A	ExAC,gnomAD
rs1282868964	p.Gln849Ter	stop gained	-	NC_000003.12:g.197051640G>A	gnomAD
NCI-TCGA novel	p.Ala850Thr	missense variant	-	NC_000003.12:g.197051637C>T	NCI-TCGA
COSM420063	p.Arg851Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197051633C>T	NCI-TCGA Cosmic
rs758272031	p.Thr853Ala	missense variant	-	NC_000003.12:g.197051628T>C	ExAC,gnomAD
rs1354149750	p.Phe854Tyr	missense variant	-	NC_000003.12:g.197051624A>T	gnomAD
rs1306451100	p.Glu855Gly	missense variant	-	NC_000003.12:g.197051621T>C	gnomAD
NCI-TCGA novel	p.Glu855Asp	missense variant	-	NC_000003.12:g.197051620C>G	NCI-TCGA
rs750334615	p.Arg856Thr	missense variant	-	NC_000003.12:g.197051618C>G	ExAC,gnomAD
rs368819214	p.Met858Val	missense variant	-	NC_000003.12:g.197051613T>C	ESP,ExAC,gnomAD
rs1311102081	p.Lys859Thr	missense variant	-	NC_000003.12:g.197051609T>G	gnomAD
rs1326854738	p.Glu861Asp	missense variant	-	NC_000003.12:g.197051602T>G	gnomAD
NCI-TCGA novel	p.Glu861Lys	missense variant	-	NC_000003.12:g.197051604C>T	NCI-TCGA
rs1461717180	p.Glu866Gln	missense variant	-	NC_000003.12:g.197051589C>G	gnomAD
rs1389756156	p.His867Asp	missense variant	-	NC_000003.12:g.197051586G>C	gnomAD
NCI-TCGA novel	p.Thr869Ile	missense variant	-	NC_000003.12:g.197051579G>A	NCI-TCGA
rs779459646	p.Ile871Val	missense variant	-	NC_000003.12:g.197044727T>C	ExAC,gnomAD
COSM1422072	p.Ile871Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197044726A>T	NCI-TCGA Cosmic
rs1478761741	p.Val872Ala	missense variant	-	NC_000003.12:g.197044723A>G	gnomAD
rs1283231928	p.Gln873Arg	missense variant	-	NC_000003.12:g.197044720T>C	TOPMed
NCI-TCGA novel	p.Gly874Val	missense variant	-	NC_000003.12:g.197044717C>A	NCI-TCGA
NCI-TCGA novel	p.Gly874Glu	missense variant	-	NC_000003.12:g.197044717C>T	NCI-TCGA
rs778889719	p.Asp875His	missense variant	-	NC_000003.12:g.197044715C>G	ExAC,TOPMed,gnomAD
rs778889719	p.Asp875Asn	missense variant	-	NC_000003.12:g.197044715C>T	ExAC,TOPMed,gnomAD
rs765371853	p.Thr876Met	missense variant	-	NC_000003.12:g.197044711G>A	TOPMed,gnomAD
rs763811548	p.Leu877Arg	missense variant	-	NC_000003.12:g.197044708A>C	ExAC,TOPMed,gnomAD
rs368567166	p.Asp879Tyr	missense variant	-	NC_000003.12:g.197044703C>A	ExAC,gnomAD
rs368567166	p.Asp879Asn	missense variant	-	NC_000003.12:g.197044703C>T	ExAC,gnomAD
rs752917348	p.Asn882Tyr	missense variant	-	NC_000003.12:g.197044694T>A	ExAC,gnomAD
COSM3591913	p.Asn882Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197044693T>C	NCI-TCGA Cosmic
rs1180633741	p.Gln886Arg	missense variant	-	NC_000003.12:g.197044681T>C	TOPMed
NCI-TCGA novel	p.Gln886His	missense variant	-	NC_000003.12:g.197044680C>A	NCI-TCGA
NCI-TCGA novel	p.Glu889Lys	missense variant	-	NC_000003.12:g.197044673C>T	NCI-TCGA
rs1350141676	p.Gln891Lys	missense variant	-	NC_000003.12:g.197044667G>T	gnomAD
rs776026149	p.Gln891Pro	missense variant	-	NC_000003.12:g.197044666T>G	TOPMed,gnomAD
rs34492126	p.Pro899Leu	missense variant	-	NC_000003.12:g.197044642G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770242553	p.Ala900Thr	missense variant	-	NC_000003.12:g.197044640C>T	ExAC,TOPMed,gnomAD
rs746662289	p.Lys901Asn	missense variant	-	NC_000003.12:g.197044635T>G	ExAC,TOPMed,gnomAD
rs760593370	p.Lys903Asn	missense variant	-	NC_000003.12:g.197044629C>G	ExAC,TOPMed,gnomAD
rs1334292456	p.Leu904Pro	missense variant	-	NC_000003.12:g.197044627A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE
C0007112	Adenocarcinoma of prostate	disease	BEFREE
C0007873	Uterine Cervical Neoplasm	disease	LHGDN
C0008925	Cleft Palate	disease	CTD_human
C0009375	Colonic Neoplasms	group	LHGDN
C0010346	Crohn Disease	disease	BEFREE
C0019693	HIV Infections	group	BEFREE
C0020295	Hydronephrosis	disease	BEFREE;LHGDN
C0021367	Mammary Ductal Carcinoma	disease	BEFREE
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0030567	Parkinson Disease	disease	RGD
C0035078	Kidney Failure	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;CTD_human
C0158646	Cleft palate with cleft lip	disease	ORPHANET
C0266316	Congenital hydronephrosis	disease	BEFREE
C1142166	Brugada Syndrome (disorder)	disease	GENOMICS_ENGLAND
C1656427	Early onset schizophrenia	disease	BEFREE
C1698581	Rokitansky Kuster Hauser syndrome	disease	BEFREE
C1837218	Cleft palate, isolated	disease	CTD_human
C2674949	Chromosome 3q29 Deletion Syndrome	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4021821	Abnormality of the urinary system	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004385	guanylate kinase activity	TAS
GO:0004721	phosphoprotein phosphatase activity	TAS
GO:0005515	protein binding	IPI
GO:0008022	protein C-terminus binding	IPI
GO:0008092	cytoskeletal protein binding	TAS
GO:0015459	potassium channel regulator activity	NAS
GO:0015459	potassium channel regulator activity	IDA
GO:0015459	potassium channel regulator activity	ISS
GO:0019901	protein kinase binding	IPI
GO:0019902	phosphatase binding	IPI
GO:0031434	mitogen-activated protein kinase kinase binding	IPI
GO:0044325	ion channel binding	IPI
GO:0045296	cadherin binding	HDA
GO:0060090	molecular adaptor activity	IEA
GO:0097016	L27 domain binding	IPI
GO:0098919	structural constituent of postsynaptic density	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0000165	MAPK cascade	TAS
GO:0001658	branching involved in ureteric bud morphogenesis	IEA
GO:0001771	immunological synapse formation	IEA
GO:0001935	endothelial cell proliferation	IDA
GO:0002088	lens development in camera-type eye	IEA
GO:0002369	T cell cytokine production	IEA
GO:0006470	protein dephosphorylation	IEA
GO:0007015	actin filament organization	IDA
GO:0007093	mitotic cell cycle checkpoint	NAS
GO:0007163	establishment or maintenance of cell polarity	TAS
GO:0007268	chemical synaptic transmission	IBA
GO:0008284	positive regulation of cell population proliferation	IEA
GO:0008360	regulation of cell shape	IMP
GO:0016032	viral process	IEA
GO:0030432	peristalsis	IEA
GO:0030838	positive regulation of actin filament polymerization	IEA
GO:0030866	cortical actin cytoskeleton organization	IDA
GO:0030953	astral microtubule organization	IMP
GO:0031579	membrane raft organization	IEA
GO:0031641	regulation of myelination	IEA
GO:0032147	activation of protein kinase activity	IEA
GO:0034629	cellular protein-containing complex localization	IMP
GO:0042110	T cell activation	IEA
GO:0042130	negative regulation of T cell proliferation	IEA
GO:0042391	regulation of membrane potential	IDA
GO:0042982	amyloid precursor protein metabolic process	IEA
GO:0043113	receptor clustering	IBA
GO:0043268	positive regulation of potassium ion transport	IDA
GO:0043622	cortical microtubule organization	IMP
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045930	negative regulation of mitotic cell cycle	IMP
GO:0046037	GMP metabolic process	IEA
GO:0046710	GDP metabolic process	IEA
GO:0048608	reproductive structure development	IEA
GO:0048704	embryonic skeletal system morphogenesis	IEA
GO:0048745	smooth muscle tissue development	IEA
GO:0050680	negative regulation of epithelial cell proliferation	IEA
GO:0051660	establishment of centrosome localization	IMP
GO:0051898	negative regulation of protein kinase B signaling	IEA
GO:0060022	hard palate development	IEA
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP
GO:0070830	bicellular tight junction assembly	IDA
GO:0072659	protein localization to plasma membrane	IMP
GO:0072659	protein localization to plasma membrane	TAS
GO:0097120	receptor localization to synapse	IBA
GO:0098609	cell-cell adhesion	IDA
GO:0098609	cell-cell adhesion	IBA
GO:0098911	regulation of ventricular cardiac muscle cell action potential	ISS
GO:0099562	maintenance of postsynaptic density structure	IEA
GO:0099645	neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:1902305	regulation of sodium ion transmembrane transport	TAS
GO:1902473	regulation of protein localization to synapse	IDA
GO:1903078	positive regulation of protein localization to plasma membrane	IDA
GO:1903286	regulation of potassium ion import	ISS
GO:1903753	negative regulation of p38MAPK cascade	IMP
GO:1903760	regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	ISS
GO:1903764	regulation of potassium ion export across plasma membrane	ISS
GO:2000310	regulation of NMDA receptor activity	TAS
GO:1901222	regulation of NIK/NF-kappaB signaling	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001772	immunological synapse	TAS
GO:0001772	immunological synapse	IDA
GO:0005604	basement membrane	IEA
GO:0005623	cell	IEA
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA
GO:0005783	endoplasmic reticulum	IDA
GO:0005789	endoplasmic reticulum membrane	IEA
GO:0005794	Golgi apparatus	IDA
GO:0005829	cytosol	TAS
GO:0005874	microtubule	IDA
GO:0005886	plasma membrane	TAS
GO:0005911	cell-cell junction	IDA
GO:0005923	bicellular tight junction	IDA
GO:0009898	cytoplasmic side of plasma membrane	IDA
GO:0014704	intercalated disc	TAS
GO:0016323	basolateral plasma membrane	IBA
GO:0016323	basolateral plasma membrane	IDA
GO:0016324	apical plasma membrane	IEA
GO:0016328	lateral plasma membrane	IEA
GO:0030054	cell junction	IDA
GO:0030054	cell junction	IBA
GO:0031253	cell projection membrane	IEA
GO:0031594	neuromuscular junction	IBA
GO:0033268	node of Ranvier	IEA
GO:0035748	myelin sheath abaxonal region	IEA
GO:0042383	sarcolemma	IEA
GO:0043005	neuron projection	IBA
GO:0043219	lateral loop	IEA
GO:0045121	membrane raft	IEA
GO:0048471	perinuclear region of cytoplasm	IDA
GO:0070062	extracellular exosome	HDA
GO:0097025	MPP7-DLG1-LIN7 complex	IDA
GO:0097060	synaptic membrane	IDA
GO:0098839	postsynaptic density membrane	IBA
GO:0098978	glutamatergic synapse	IEA
GO:0008328	ionotropic glutamate receptor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission	IEA
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission	TAS
R-HSA-112315	Transmission across Chemical Synapses	IEA
R-HSA-112315	Transmission across Chemical Synapses	TAS
R-HSA-112316	Neuronal System	IEA
R-HSA-112316	Neuronal System	TAS
R-HSA-1266738	Developmental Biology	IEA
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-168256	Immune System	TAS
R-HSA-373760	L1CAM interactions	IEA
R-HSA-399719	Trafficking of AMPA receptors	TAS
R-HSA-399721	Glutamate binding, activation of AMPA receptors and synaptic plasticity	TAS
R-HSA-422475	Axon guidance	IEA
R-HSA-438064	Post NMDA receptor activation events	IEA
R-HSA-438066	Unblocking of NMDA receptors, glutamate binding and activation	TAS
R-HSA-438066	Unblocking of NMDA receptors, glutamate binding and activation	IEA
R-HSA-442742	CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling	IEA
R-HSA-442755	Activation of NMDA receptors and postsynaptic events	IEA
R-HSA-442755	Activation of NMDA receptors and postsynaptic events	TAS
R-HSA-442982	Ras activation upon Ca2+ influx through NMDA receptor	IEA
R-HSA-447038	NrCAM interactions	IEA
R-HSA-451306	Ionotropic activity of kainate receptors	TAS
R-HSA-451308	Activation of Ca-permeable Kainate Receptor	TAS
R-HSA-451326	Activation of kainate receptors upon glutamate binding	TAS
R-HSA-5673001	RAF/MAP kinase cascade	TAS
R-HSA-5683057	MAPK family signaling cascades	TAS
R-HSA-5684996	MAPK1/MAPK3 signaling	TAS
R-HSA-6794362	Protein-protein interactions at synapses	TAS
R-HSA-8849932	Synaptic adhesion-like molecules	TAS
R-HSA-9607240	FLT3 Signaling	TAS
R-HSA-9609736	Assembly and cell surface presentation of NMDA receptors	IEA
R-HSA-9617324	Negative regulation of NMDA receptor-mediated neuronal transmission	IEA
R-HSA-9620244	Long-term potentiation	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of DLG1 mRNA	28628672
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of DLG1 mRNA	20406850
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of DLG1 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with p-Chloromercuribenzoic 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 decreased expression of DLG1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of DLG1 mRNA	19150397
C553817	7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one	7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one results in decreased expression of DLG1 mRNA	19936915
C496492	abrine	abrine results in decreased expression of DLG1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of DLG1 mRNA	21420995
D016604	Aflatoxin B1	[sulforafan co-treated with Aflatoxin B1] affects the expression of DLG1 mRNA	25450479
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of DLG1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of DLG1 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of DLG1 mRNA	24831965
D001280	Atrazine	Atrazine results in increased expression of DLG1 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of DLG1 mRNA	20064835
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in increased expression of DLG1 mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of DLG1 mRNA	15034205
C006780	bisphenol A	bisphenol A affects the expression of DLG1 mRNA	30248606
C006780	bisphenol A	bisphenol A results in decreased methylation of DLG1 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of DLG1 promoter	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of DLG1 intron	30906313
C006780	bisphenol A	bisphenol A affects the expression of DLG1 mRNA	21786754
C006780	bisphenol A	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben] results in decreased expression of DLG1 mRNA	25607892
C006780	bisphenol A	bisphenol A results in decreased expression of DLG1 mRNA	25181051
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of DLG1 mRNA	28628672
D020126	Brefeldin A	Brefeldin A inhibits the reaction [geranylgeranylacetone results in increased activity of DLG1 protein]	21232033
C013418	bromfenacoum	bromfenacoum results in decreased expression of DLG1 protein	28903499
C038091	butylparaben	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben] results in decreased expression of DLG1 mRNA	25607892
D019256	Cadmium Chloride	[Methylnitronitrosoguanidine co-treated with Cadmium Chloride] results in decreased expression of DLG1 mRNA	19840844
D002112	Calcifediol	Calcifediol deficiency results in decreased expression of DLG1 mRNA	17293106
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of DLG1 mRNA	23650126
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of DLG1 mRNA	18668222
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of DLG1 mRNA	17553155; 19320972;
C018021	cobaltous chloride	cobaltous chloride results in increased expression of DLG1 mRNA	17553155
D003078	Colchicine	Colchicine inhibits the reaction [geranylgeranylacetone results in increased activity of DLG1 protein]	21232033
D016572	Cyclosporine	Cyclosporine results in decreased expression of DLG1 mRNA	25562108
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of DLG1 mRNA	28628672
D003976	Diazinon	Diazinon affects the expression of DLG1 mRNA	22546817
D003993	Dibutyl Phthalate	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of DLG1 mRNA	25607892
D003633	Dichlorodiphenyl Dichloroethylene	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of DLG1 mRNA	25607892
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of DLG1 mRNA	26924002
D004051	Diethylhexyl Phthalate	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of DLG1 mRNA	25607892
C493087	diphenylarsinic acid	diphenylarsinic acid results in decreased expression of DLG1 protein	24008832
D016291	Dizocilpine Maleate	Dizocilpine Maleate results in increased expression of DLG1 mRNA	11169168
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic 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 decreased expression of DLG1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of DLG1 mRNA	29803840
D013759	Dronabinol	Dronabinol results in decreased expression of DLG1 mRNA	16616335
C038939	enzacamene	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben] results in decreased expression of DLG1 mRNA	25607892
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of DLG1 mRNA	22079256
C109476	epoxiconazole	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of DLG1 mRNA	25607892
D000431	Ethanol	Ethanol affects the expression of and affects the splicing of DLG1 mRNA	30319688
D000431	Ethanol	Ethanol affects the expression of DLG1 mRNA	30319688
D018120	Finasteride	Finasteride results in increased expression of DLG1 mRNA	24136188
D005472	Fluorouracil	DLG1 protein affects the susceptibility to [Fluorouracil co-treated with Irinotecan analog]	18927307
D005557	Formaldehyde	Formaldehyde results in decreased expression of DLG1 mRNA	20655997
C001277	geldanamycin	geldanamycin results in increased expression of DLG1 mRNA	26705709
C031049	geranylgeranylacetone	geranylgeranylacetone promotes the reaction [[HSF1 protein binds to DLG1 promoter] which results in increased expression of DLG1 mRNA]	21232033; 21232033;
C031049	geranylgeranylacetone	geranylgeranylacetone results in increased expression of DLG1 mRNA	21232033
C031049	geranylgeranylacetone	geranylgeranylacetone results in increased expression of DLG1 protein	21232033
C031049	geranylgeranylacetone	Niacinamide inhibits the reaction [geranylgeranylacetone results in increased expression of DLG1 mRNA]	21232033
C031049	geranylgeranylacetone	Resveratrol promotes the reaction [geranylgeranylacetone results in increased expression of DLG1 mRNA]	21232033
C031049	geranylgeranylacetone	Brefeldin A inhibits the reaction [geranylgeranylacetone results in increased activity of DLG1 protein]	21232033
C031049	geranylgeranylacetone	Colchicine inhibits the reaction [geranylgeranylacetone results in increased activity of DLG1 protein]	21232033
C031049	geranylgeranylacetone	geranylgeranylacetone results in increased activity of DLG1 protein	21232033
D006861	Hydrogen Peroxide	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of DLG1 protein	18951874
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of DLG1 mRNA	28628672
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of DLG1 mRNA	25613284
D000077146	Irinotecan	DLG1 protein affects the susceptibility to [Fluorouracil co-treated with Irinotecan analog]	18927307
D000077146	Irinotecan	Irinotecan analog results in decreased expression of DLG1 mRNA	18927307
C544151	jinfukang	jinfukang results in decreased expression of DLG1 mRNA	27392435
C008261	lead acetate	lead acetate results in decreased expression of DLG1 mRNA	19737576
D007980	Levodopa	[Oxidopamine co-treated with Levodopa] results in increased expression of DLG1 mRNA	15703272
D007980	Levodopa	[Oxidopamine co-treated with Levodopa] results in increased expression of DLG1 protein	15703272
D008044	Linuron	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of DLG1 mRNA	25607892
D008694	Methamphetamine	Methamphetamine affects the expression of DLG1 mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in decreased expression of DLG1 mRNA	30467583
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of DLG1 mRNA	26272509
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of DLG1 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of DLG1 mRNA	23649840
D008769	Methylnitronitrosoguanidine	[Methylnitronitrosoguanidine co-treated with Cadmium Chloride] results in decreased expression of DLG1 mRNA	19840844
D008769	Methylnitronitrosoguanidine	[Methylnitronitrosoguanidine co-treated with Okadaic Acid] results in decreased expression of DLG1 mRNA	19840844
D008769	Methylnitronitrosoguanidine	[Methylnitronitrosoguanidine co-treated with Tetradecanoylphorbol Acetate] results in decreased expression of DLG1 mRNA	19840844
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of DLG1 mRNA	31059758
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of DLG1 mRNA	26924002
D009151	Mustard Gas	Mustard Gas affects the expression of DLG1 mRNA	15651846
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of DLG1 mRNA	25620056
D009536	Niacinamide	Niacinamide inhibits the reaction [geranylgeranylacetone results in increased expression of DLG1 mRNA]	21232033
D009536	Niacinamide	[Niacinamide results in decreased activity of SIRT1 protein] which results in decreased expression of DLG1 mRNA	21232033
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of DLG1 mRNA	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased methylation of DLG1 promoter	26251327
C118580	octylmethoxycinnamate	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben] results in decreased expression of DLG1 mRNA	25607892
D019319	Okadaic Acid	[Methylnitronitrosoguanidine co-treated with Okadaic Acid] results in decreased expression of DLG1 mRNA	19840844
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of DLG1 mRNA	25729387
D016627	Oxidopamine	Oxidopamine affects the localization of DLG1 protein	15703272
D016627	Oxidopamine	[Oxidopamine co-treated with Levodopa] results in increased expression of DLG1 mRNA	15703272
D016627	Oxidopamine	[Oxidopamine co-treated with Levodopa] results in increased expression of DLG1 protein	15703272
D016627	Oxidopamine	Oxidopamine results in decreased expression of DLG1 protein	15703272
D010100	Oxygen	Oxygen deficiency affects the methylation of DLG1 promoter	24205000
D010100	Oxygen	Oxygen deficiency results in increased expression of DLG1 mRNA	24205000
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic 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 decreased expression of DLG1 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of DLG1 mRNA	26272509
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of DLG1 mRNA	24642059
D010433	Pentylenetetrazole	Pentylenetetrazole affects the expression of DLG1 mRNA	21503142
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of DLG1 mRNA	27153767
D000077205	Pioglitazone	Pioglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of DLG1 mRNA]	20847119
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of DLG1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of DLG1 mRNA	22079256
C045362	prochloraz	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of DLG1 mRNA	25607892
C035988	procymidone	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of DLG1 mRNA	25607892
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of DLG1 mRNA	24780913
D011794	Quercetin	Quercetin results in decreased expression of DLG1 mRNA	21632981
D000077185	Resveratrol	Resveratrol promotes the reaction [geranylgeranylacetone results in increased expression of DLG1 mRNA]	21232033
D000077185	Resveratrol	[Resveratrol results in increased activity of SIRT1 protein] which results in increased expression of DLG1 mRNA	21232033
D000077154	Rosiglitazone	[Rosiglitazone co-treated with tert-Butylhydroperoxide] results in increased expression of DLG1 mRNA	20847119
D000077154	Rosiglitazone	Rosiglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of DLG1 mRNA]	20847119
D012643	Selenium	Selenium results in decreased expression of DLG1 mRNA	19244175
C017947	sodium arsenite	sodium arsenite results in decreased expression of DLG1 mRNA	28595984
C016766	sulforafan	[sulforafan co-treated with Aflatoxin B1] affects the expression of DLG1 mRNA	25450479
D013467	Sulindac	Sulindac results in increased expression of DLG1 mRNA	24136188
D020122	tert-Butylhydroperoxide	Pioglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of DLG1 mRNA]	20847119
D020122	tert-Butylhydroperoxide	[Rosiglitazone co-treated with tert-Butylhydroperoxide] results in increased expression of DLG1 mRNA	20847119
D020122	tert-Butylhydroperoxide	Rosiglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of DLG1 mRNA]	20847119
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of DLG1 mRNA	20847119
D020122	tert-Butylhydroperoxide	[Troglitazone co-treated with tert-Butylhydroperoxide] results in decreased expression of DLG1 mRNA	20847119
D020122	tert-Butylhydroperoxide	Troglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of DLG1 mRNA]	20847119
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of DLG1 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of DLG1 mRNA]	15034205
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DLG1 mRNA	21570461; 24680724;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of DLG1 mRNA	15034205
D013755	Tetradecanoylphorbol Acetate	[Methylnitronitrosoguanidine co-treated with Tetradecanoylphorbol Acetate] results in decreased expression of DLG1 mRNA	19840844
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of DLG1 mRNA	25613284
D013806	Theophylline	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of DLG1 protein	18951874
D013849	Thimerosal	Thimerosal results in decreased expression of DLG1 mRNA	27188386
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of DLG1 protein	30291989
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of DLG1 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of DLG1 mRNA	25729387
C012589	trichostatin A	trichostatin A results in increased expression of DLG1 mRNA	24935251; 26272509;
D000077288	Troglitazone	[Troglitazone co-treated with tert-Butylhydroperoxide] results in decreased expression of DLG1 mRNA	20847119
D000077288	Troglitazone	Troglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of DLG1 mRNA]	20847119
D014414	Tungsten	Tungsten results in decreased expression of DLG1 mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in decreased expression of DLG1 mRNA	23179753; 24935251; 27188386;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of DLG1 gene	25560391
C025643	vinclozolin	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of DLG1 mRNA	25607892
D000077337	Vorinostat	Vorinostat results in decreased expression of DLG1 mRNA	27188386
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of DLG1 mRNA	20977926

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0965	Cell junction
KW-1003	Cell membrane
KW-0963	Cytoplasm
KW-0256	Endoplasmic reticulum
KW-0945	Host-virus interaction
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0728	SH3 domain
KW-0770	Synapse

Interpro

InterPro ID	InterPro Term
IPR016313	DLG1-like
IPR019590	DLG1_PEST_dom
IPR008145	GK/Ca_channel_bsu
IPR008144	Guanylate_kin-like_dom
IPR020590	Guanylate_kinase_CS
IPR015143	L27_1
IPR004172	L27_dom
IPR036892	L27_dom_sf
IPR027417	P-loop_NTPase
IPR001478	PDZ
IPR019583	PDZ_assoc
IPR036034	PDZ_sf
IPR036028	SH3-like_dom_sf
IPR001452	SH3_domain

PROSITE

PROSITE ID	PROSITE Term
PS00856	GUANYLATE_KINASE_1
PS50052	GUANYLATE_KINASE_2
PS51022	L27
PS50106	PDZ
PS50002	SH3

Pfam

Pfam ID	Pfam Term
PF00625	Guanylate_kin
PF09058	L27_1
PF10608	MAGUK_N_PEST
PF00595	PDZ
PF10600	PDZ_assoc
PF00018	SH3_1

Gene: DLG1

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