CleftGeneDB-Search

Gene: KDF1

Basic information

Tag	Content
Uniprot ID	Q8NAX2; Q5QP32; Q8N0S7;
Entrez ID	126695
Genbank protein ID	BAC03775.1; AAH33143.1;
Genbank nucleotide ID	XM_005245735.2; XM_011540622.1; NM_152365.2;
Ensembl protein ID	ENSP00000319179
Ensembl nucleotide ID	ENSG00000175707
Gene name	Keratinocyte differentiation factor 1
Gene symbol	KDF1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity).
Sequence	MPRPGHPRPA SGPPRLGPWE RPTELCLETY DKPPQPPPSR RTRRPDPKDP GHHGPESITF 60 ISGSAEPALE SPTCCLLWRP WVWEWCRAAF CFRRCRDCLQ RCGACVRGCS PCLSTEDSTE 120 GTAEANWAKE HNGVPPSPDR APPSRRDGQR LKSTMGSSFS YPDVKLKGIP VYPYPRATSP 180 APDADSCCKE PLADPPPMRH SLPSTFASSP RGSEEYYSFH ESDLDLPEMG SGSMSSREID 240 VLIFKKLTEL FSVHQIDELA KCTSDTVFLE KTSKISDLIS SITQDYHLDE QDAEGRLVRG 300 IIRISTRKSR ARPQTSEGRS TRAAAPTAAA PDSGHETMVG SGLSQDELTV QISQETTADA 360 IARKLRPYGA PGYPASHDSS FQGTDTDSSG APLLQVYC 398

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	KDF1	540019	A5PJK4		Bos taurus	Prediction	More>>
1:1 ortholog	KDF1	612121	E2R9Y8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	KDF1	102179821	A0A452FYZ0		Capra hircus	Prediction	More>>
1:1 ortholog	KDF1	100057007	F7DZ26		Equus caballus	Prediction	More>>
1:1 ortholog	KDF1	126695	Q8NAX2		Homo sapiens	Prediction	More>>
1:1 ortholog	Kdf1	69073	A2A9F4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	KDF1	737621	H2PYE8		Pan troglodytes	Prediction	More>>
1:1 ortholog	KDF1	100511202	F1STQ5		Sus scrofa	Prediction	More>>
1:1 ortholog	KDF1	100357150	G1SQZ0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	kdf1a	797923	E7F2A2		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM1341459	p.Pro2Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952377G>A	NCI-TCGA Cosmic
rs200247502	p.Arg3His	missense variant	-	NC_000001.11:g.26952373C>T	ExAC,TOPMed,gnomAD
rs1306424911	p.Arg3Cys	missense variant	-	NC_000001.11:g.26952374G>A	TOPMed
rs1306424911	p.Arg3Ser	missense variant	-	NC_000001.11:g.26952374G>T	TOPMed
rs1306424911	p.Arg3Cys	missense variant	-	NC_000001.11:g.26952374G>A	NCI-TCGA
COSM3487629	p.Gly5Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952367C>T	NCI-TCGA Cosmic
rs1215994710	p.His6Tyr	missense variant	-	NC_000001.11:g.26952365G>A	TOPMed
rs1363056327	p.Pro7Ala	missense variant	-	NC_000001.11:g.26952362G>C	TOPMed
rs565917289	p.Arg8Cys	missense variant	-	NC_000001.11:g.26952359G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs548929772	p.Arg8His	missense variant	-	NC_000001.11:g.26952358C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg8AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000001.11:g.26952359G>-	NCI-TCGA
rs768274676	p.Ala10Glu	missense variant	-	NC_000001.11:g.26952352G>T	ExAC,gnomAD
rs1377871069	p.Gly12Arg	missense variant	-	NC_000001.11:g.26952347C>T	TOPMed
rs375203089	p.Pro13Ala	missense variant	-	NC_000001.11:g.26952344G>C	ESP,ExAC,TOPMed,gnomAD
rs1203106618	p.Pro13Arg	missense variant	-	NC_000001.11:g.26952343G>C	TOPMed,gnomAD
rs144505487	p.Arg15His	missense variant	-	NC_000001.11:g.26952337C>T	ESP,ExAC,TOPMed,gnomAD
rs144505487	p.Arg15Leu	missense variant	-	NC_000001.11:g.26952337C>A	ESP,ExAC,TOPMed,gnomAD
rs529561188	p.Arg15Cys	missense variant	-	NC_000001.11:g.26952338G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1240659379	p.Gly17Glu	missense variant	-	NC_000001.11:g.26952331C>T	gnomAD
rs770601582	p.Gly17Arg	missense variant	-	NC_000001.11:g.26952332C>T	ExAC,gnomAD
rs145806681	p.Pro18Leu	missense variant	-	NC_000001.11:g.26952328G>A	ESP,ExAC,TOPMed,gnomAD
rs145806681	p.Pro18Leu	missense variant	-	NC_000001.11:g.26952328G>A	NCI-TCGA
NCI-TCGA novel	p.Glu20Asp	missense variant	-	NC_000001.11:g.26952321C>A	NCI-TCGA
rs79374331	p.Arg21Gln	missense variant	-	NC_000001.11:g.26952319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756011181	p.Arg21Trp	missense variant	-	NC_000001.11:g.26952320G>A	ExAC,TOPMed,gnomAD
COSM1341458	p.Pro22Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952317G>A	NCI-TCGA Cosmic
rs758740877	p.Thr23Arg	missense variant	-	NC_000001.11:g.26952313G>C	ExAC,TOPMed,gnomAD
rs780230453	p.Thr23Ala	missense variant	-	NC_000001.11:g.26952314T>C	ExAC,gnomAD
rs1011626133	p.Glu24Lys	missense variant	-	NC_000001.11:g.26952311C>T	TOPMed,gnomAD
rs1160142189	p.Glu24Val	missense variant	-	NC_000001.11:g.26952310T>A	gnomAD
rs750638599	p.Glu24Asp	missense variant	-	NC_000001.11:g.26952309C>G	ExAC,TOPMed,gnomAD
rs1175925699	p.Glu28Lys	missense variant	-	NC_000001.11:g.26952299C>T	gnomAD
COSM6126225	p.Glu28Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952299C>G	NCI-TCGA Cosmic
COSM4856095	p.Glu28Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26952299C>A	NCI-TCGA Cosmic
rs1231776865	p.Glu28Ala	missense variant	-	NC_000001.11:g.26952298T>G	TOPMed
NCI-TCGA novel	p.Tyr30Ter	frameshift	-	NC_000001.11:g.26952291_26952292AT>-	NCI-TCGA
rs1247613771	p.Pro33Leu	missense variant	-	NC_000001.11:g.26952283G>A	gnomAD
rs369334382	p.Pro34Ala	missense variant	-	NC_000001.11:g.26952281G>C	ESP,ExAC,TOPMed,gnomAD
rs1288405447	p.Gln35Arg	missense variant	-	NC_000001.11:g.26952277T>C	gnomAD
rs761208100	p.Pro36Ser	missense variant	-	NC_000001.11:g.26952275G>A	ExAC,TOPMed,gnomAD
rs775005166	p.Pro38Ser	missense variant	-	NC_000001.11:g.26952269G>A	ExAC,gnomAD
rs1282260823	p.Ser39Gly	missense variant	-	NC_000001.11:g.26952266T>C	gnomAD
rs773978155	p.Arg40His	missense variant	-	NC_000001.11:g.26952262C>T	ExAC,TOPMed,gnomAD
rs759227084	p.Arg40Ser	missense variant	-	NC_000001.11:g.26952263G>T	ExAC,TOPMed,gnomAD
rs759227084	p.Arg40Cys	missense variant	-	NC_000001.11:g.26952263G>A	ExAC,TOPMed,gnomAD
rs143721921	p.Arg41His	missense variant	-	NC_000001.11:g.26952259C>T	ESP,ExAC,gnomAD
rs770558931	p.Arg41Cys	missense variant	-	NC_000001.11:g.26952260G>A	NCI-TCGA,NCI-TCGA Cosmic
rs770558931	p.Arg41Cys	missense variant	-	NC_000001.11:g.26952260G>A	ExAC,TOPMed,gnomAD
rs1299651921	p.Thr42Ser	missense variant	-	NC_000001.11:g.26952257T>A	gnomAD
NCI-TCGA novel	p.Thr42Ile	missense variant	-	NC_000001.11:g.26952256G>A	NCI-TCGA
rs1156351594	p.Arg43His	missense variant	-	NC_000001.11:g.26952253C>T	gnomAD
rs199965062	p.Arg43Cys	missense variant	-	NC_000001.11:g.26952254G>A	ESP,ExAC,TOPMed,gnomAD
rs199965062	p.Arg43Gly	missense variant	-	NC_000001.11:g.26952254G>C	ESP,ExAC,TOPMed,gnomAD
rs1156351594	p.Arg43His	missense variant	-	NC_000001.11:g.26952253C>T	NCI-TCGA Cosmic
rs780318215	p.Pro47Ala	missense variant	-	NC_000001.11:g.26952242G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly51TrpPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.26952231_26952232insG	NCI-TCGA
rs1049224185	p.His52Tyr	missense variant	-	NC_000001.11:g.26952227G>A	TOPMed
rs746153605	p.His53Arg	missense variant	-	NC_000001.11:g.26952223T>C	ExAC,gnomAD
rs746153605	p.His53Arg	missense variant	-	NC_000001.11:g.26952223T>C	NCI-TCGA
COSM3487627	p.His53Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952224G>A	NCI-TCGA Cosmic
rs1247789887	p.Gly54Glu	missense variant	-	NC_000001.11:g.26952220C>T	TOPMed
rs1178501414	p.Glu56Gln	missense variant	-	NC_000001.11:g.26952215C>G	TOPMed
rs1194583670	p.Ser57Thr	missense variant	-	NC_000001.11:g.26952211C>G	gnomAD
NCI-TCGA novel	p.Ser57HisPheSerTerUnk	frameshift	-	NC_000001.11:g.26952211_26952212CT>-	NCI-TCGA
rs919668124	p.Ile61Ser	missense variant	-	NC_000001.11:g.26952199A>C	TOPMed
rs1240391723	p.Ile61Leu	missense variant	-	NC_000001.11:g.26952200T>G	gnomAD
rs1312899616	p.Ser62Cys	missense variant	-	NC_000001.11:g.26952196G>C	gnomAD
rs144535348	p.Ala65Thr	missense variant	-	NC_000001.11:g.26952188C>T	ESP,ExAC,TOPMed,gnomAD
rs982502162	p.Ala65Val	missense variant	-	NC_000001.11:g.26952187G>A	TOPMed
rs140672463	p.Pro67Leu	missense variant	-	NC_000001.11:g.26952181G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767081810	p.Ala68Thr	missense variant	-	NC_000001.11:g.26952179C>T	ExAC,gnomAD
rs759059288	p.Leu69Ile	missense variant	-	NC_000001.11:g.26952176G>T	ExAC,gnomAD
rs1286803692	p.Ser71Pro	missense variant	-	NC_000001.11:g.26952170A>G	gnomAD
NCI-TCGA novel	p.Ser71Phe	missense variant	-	NC_000001.11:g.26952169G>A	NCI-TCGA
rs773781837	p.Pro72Ser	missense variant	-	NC_000001.11:g.26952167G>A	ExAC,gnomAD
rs368517120	p.Thr73Ile	missense variant	-	NC_000001.11:g.26952163G>A	ESP,ExAC,TOPMed,gnomAD
rs772925863	p.Cys74Ser	missense variant	-	NC_000001.11:g.26952160C>G	ExAC,TOPMed,gnomAD
rs748161190	p.Arg79Gln	missense variant	-	NC_000001.11:g.26952145C>T	ExAC,TOPMed,gnomAD
rs748161190	p.Arg79Pro	missense variant	-	NC_000001.11:g.26952145C>G	ExAC,TOPMed,gnomAD
rs776692680	p.Trp81Arg	missense variant	-	NC_000001.11:g.26952140A>G	ExAC,gnomAD
COSM3487626	p.Trp81Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26952138C>T	NCI-TCGA Cosmic
COSM680157	p.Trp81Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26952139C>T	NCI-TCGA Cosmic
rs768659946	p.Val82Met	missense variant	-	NC_000001.11:g.26952137C>T	ExAC,TOPMed,gnomAD
rs745948877	p.Trp83Leu	missense variant	-	NC_000001.11:g.26952133C>A	ExAC,gnomAD
rs1242618637	p.Glu84Lys	missense variant	-	NC_000001.11:g.26952131C>T	gnomAD
rs377299520	p.Trp85Cys	missense variant	-	NC_000001.11:g.26952126C>G	ESP,ExAC,TOPMed,gnomAD
rs377299520	p.Trp85Cys	missense variant	-	NC_000001.11:g.26952126C>A	ESP,ExAC,TOPMed,gnomAD
rs1459944951	p.Trp85Ter	stop gained	-	NC_000001.11:g.26952127C>T	gnomAD
rs779015336	p.Trp85Arg	missense variant	-	NC_000001.11:g.26952128A>T	ExAC,gnomAD
rs145915640	p.Arg87Trp	missense variant	-	NC_000001.11:g.26952122G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151306106	p.Arg87Leu	missense variant	-	NC_000001.11:g.26952121C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151306106	p.Arg87Gln	missense variant	-	NC_000001.11:g.26952121C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1379187949	p.Ala88Val	missense variant	-	NC_000001.11:g.26952118G>A	gnomAD
rs1229680244	p.Ala88Thr	missense variant	-	NC_000001.11:g.26952119C>T	gnomAD
rs1335521334	p.Phe90Tyr	missense variant	-	NC_000001.11:g.26952112A>T	gnomAD
rs1303881429	p.Cys91Tyr	missense variant	-	NC_000001.11:g.26952109C>T	gnomAD
rs1419104452	p.Arg93Cys	missense variant	-	NC_000001.11:g.26952104G>A	TOPMed
rs753001226	p.Arg93His	missense variant	-	NC_000001.11:g.26952103C>T	ExAC,gnomAD
rs753001226	p.Arg93Leu	missense variant	-	NC_000001.11:g.26952103C>A	ExAC,gnomAD
rs541799014	p.Arg94His	missense variant	-	NC_000001.11:g.26952100C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1332689455	p.Arg94Ser	missense variant	-	NC_000001.11:g.26952101G>T	gnomAD
rs148853297	p.Cys95Arg	missense variant	-	NC_000001.11:g.26952098A>G	ESP,ExAC,TOPMed,gnomAD
rs765887283	p.Arg96Trp	missense variant	-	NC_000001.11:g.26952095G>A	ExAC,TOPMed,gnomAD
rs762549436	p.Arg96Gln	missense variant	-	NC_000001.11:g.26952094C>T	ExAC,TOPMed,gnomAD
rs144301593	p.Leu99Val	missense variant	-	NC_000001.11:g.26952086G>C	ESP,ExAC,TOPMed,gnomAD
rs761717950	p.Gln100Ter	stop gained	-	NC_000001.11:g.26952083G>A	ExAC,TOPMed,gnomAD
rs17360994	p.Gln100Arg	missense variant	-	NC_000001.11:g.26952082T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760644538	p.Arg101Cys	missense variant	-	NC_000001.11:g.26952080G>A	ExAC,TOPMed,gnomAD
rs139183337	p.Arg101His	missense variant	-	NC_000001.11:g.26952079C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs982450139	p.Cys102Tyr	missense variant	-	NC_000001.11:g.26952076C>T	TOPMed,gnomAD
rs771012694	p.Cys102Arg	missense variant	-	NC_000001.11:g.26952077A>G	ExAC,TOPMed,gnomAD
rs749541622	p.Ala104Gly	missense variant	-	NC_000001.11:g.26952070G>C	ExAC,gnomAD
rs769935791	p.Cys105Tyr	missense variant	-	NC_000001.11:g.26952067C>T	ExAC,gnomAD
rs141234946	p.Cys105Gly	missense variant	-	NC_000001.11:g.26952068A>C	ESP,ExAC,TOPMed,gnomAD
rs138248574	p.Arg107Gln	missense variant	-	NC_000001.11:g.26952061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3010109	p.Arg107Trp	missense variant	-	NC_000001.11:g.26952062G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779492462	p.Gly108Glu	missense variant	-	NC_000001.11:g.26952058C>T	ExAC,gnomAD
rs752071068	p.Gly108Ter	stop gained	-	NC_000001.11:g.26952059C>A	ExAC,gnomAD
rs1395249421	p.Ser110Asn	missense variant	-	NC_000001.11:g.26952052C>T	TOPMed
COSM6063100	p.Ser110Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952053T>A	NCI-TCGA Cosmic
rs367617835	p.Pro111Ser	missense variant	-	NC_000001.11:g.26952050G>A	ESP,gnomAD
rs1418453799	p.Cys112Phe	missense variant	-	NC_000001.11:g.26952046C>A	gnomAD
rs1418453799	p.Cys112Ser	missense variant	-	NC_000001.11:g.26952046C>G	gnomAD
rs1248101168	p.Ser114Pro	missense variant	-	NC_000001.11:g.26952041A>G	gnomAD
rs749842745	p.Thr115Ile	missense variant	-	NC_000001.11:g.26952037G>A	ExAC,TOPMed,gnomAD
rs1260821198	p.Ser118Thr	missense variant	-	NC_000001.11:g.26952029A>T	gnomAD
rs1206217498	p.Thr119Ala	missense variant	-	NC_000001.11:g.26952026T>C	TOPMed
rs761519934	p.Glu120Lys	missense variant	-	NC_000001.11:g.26952023C>T	ExAC,gnomAD
rs753712013	p.Gly121Val	missense variant	-	NC_000001.11:g.26952019C>A	ExAC,gnomAD
rs753712013	p.Gly121Glu	missense variant	-	NC_000001.11:g.26952019C>T	ExAC,gnomAD
rs753712013	p.Gly121Glu	missense variant	-	NC_000001.11:g.26952019C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly121Arg	missense variant	-	NC_000001.11:g.26952020C>T	NCI-TCGA
NCI-TCGA novel	p.Thr122LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000001.11:g.26952018C>-	NCI-TCGA
NCI-TCGA novel	p.Glu124Lys	missense variant	-	NC_000001.11:g.26952011C>T	NCI-TCGA
rs1387693335	p.Ala125Gly	missense variant	-	NC_000001.11:g.26952007G>C	gnomAD
rs1345345856	p.Trp127Arg	missense variant	-	NC_000001.11:g.26952002A>G	gnomAD
rs1301452100	p.Ala128Thr	missense variant	-	NC_000001.11:g.26951999C>T	TOPMed,gnomAD
rs1301452100	p.Ala128Pro	missense variant	-	NC_000001.11:g.26951999C>G	TOPMed,gnomAD
rs770975636	p.Lys129Asn	missense variant	-	NC_000001.11:g.26951994C>A	ExAC,gnomAD
rs371974787	p.Lys129Arg	missense variant	-	NC_000001.11:g.26951995T>C	ESP,ExAC,TOPMed,gnomAD
rs199725807	p.Lys129Glu	missense variant	-	NC_000001.11:g.26951996T>C	ExAC,TOPMed,gnomAD
rs534821230	p.His131Gln	missense variant	-	NC_000001.11:g.26951988G>T	1000Genomes,ExAC,gnomAD
rs770025779	p.Asn132Ser	missense variant	-	NC_000001.11:g.26951986T>C	ExAC,TOPMed,gnomAD
rs748346371	p.Asn132Lys	missense variant	-	NC_000001.11:g.26951985A>T	ExAC,TOPMed,gnomAD
rs768999890	p.Val134Gly	missense variant	-	NC_000001.11:g.26951980A>C	ExAC,gnomAD
rs781573827	p.Val134Leu	missense variant	-	NC_000001.11:g.26951981C>A	ExAC,gnomAD
rs747525165	p.Pro135Thr	missense variant	-	NC_000001.11:g.26951978G>T	ExAC,gnomAD
rs747525165	p.Pro135Ser	missense variant	-	NC_000001.11:g.26951978G>A	ExAC,gnomAD
rs939725374	p.Pro136Leu	missense variant	-	NC_000001.11:g.26951974G>A	TOPMed,gnomAD
rs939725374	p.Pro136Arg	missense variant	-	NC_000001.11:g.26951974G>C	TOPMed,gnomAD
rs758768470	p.Ser137Ile	missense variant	-	NC_000001.11:g.26951971C>A	ExAC,TOPMed,gnomAD
rs752617278	p.Ser137GlnPheSerTerUnk	frameshift	-	NC_000001.11:g.26951972_26951973insG	NCI-TCGA
rs1323198695	p.Asp139Glu	missense variant	-	NC_000001.11:g.26951964A>C	gnomAD
rs368075916	p.Arg140Cys	missense variant	-	NC_000001.11:g.26951963G>A	ESP,ExAC,TOPMed,gnomAD
rs377413091	p.Arg140His	missense variant	-	NC_000001.11:g.26951962C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368075916	p.Arg140Ser	missense variant	-	NC_000001.11:g.26951963G>T	ESP,ExAC,TOPMed,gnomAD
rs757023061	p.Ala141Thr	missense variant	-	NC_000001.11:g.26951960C>T	ExAC,gnomAD
rs369366004	p.Pro142Ser	missense variant	-	NC_000001.11:g.26951957G>A	ExAC,TOPMed,gnomAD
rs760507136	p.Pro142Leu	missense variant	-	NC_000001.11:g.26951956G>A	ExAC,TOPMed,gnomAD
rs1009596067	p.Pro143Ser	missense variant	-	NC_000001.11:g.26951954G>A	TOPMed
COSM1734094	p.Ser144AlaPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26951952G>-	NCI-TCGA Cosmic
rs550041376	p.Arg145Gln	missense variant	-	NC_000001.11:g.26951947C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150246438	p.Arg145Trp	missense variant	-	NC_000001.11:g.26951948G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765268716	p.Arg146Gln	missense variant	-	NC_000001.11:g.26951944C>T	ExAC,TOPMed,gnomAD
COSM4667323	p.Arg146Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951945G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg146Leu	missense variant	-	NC_000001.11:g.26951944C>A	NCI-TCGA
rs1373270171	p.Asp147Asn	missense variant	-	NC_000001.11:g.26951942C>T	gnomAD
rs1192106949	p.Gly148Val	missense variant	-	NC_000001.11:g.26951938C>A	gnomAD
rs1444707756	p.Gln149Ter	stop gained	-	NC_000001.11:g.26951936G>A	gnomAD
rs201518791	p.Arg150Trp	missense variant	-	NC_000001.11:g.26951933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768805849	p.Arg150Gln	missense variant	-	NC_000001.11:g.26951932C>T	ExAC,TOPMed,gnomAD
rs564540710	p.Lys152Met	missense variant	-	NC_000001.11:g.26951926T>A	1000Genomes,ExAC,gnomAD
rs547943153	p.Lys152Asn	missense variant	-	NC_000001.11:g.26951925C>A	1000Genomes,ExAC,gnomAD
rs1220825302	p.Ser153Ala	missense variant	-	NC_000001.11:g.26951924A>C	gnomAD
rs565350870	p.Met155Thr	missense variant	-	NC_000001.11:g.26951917A>G	ExAC,TOPMed,gnomAD
rs778611060	p.Met155Ile	missense variant	-	NC_000001.11:g.26951916C>A	ExAC,gnomAD
rs565350870	p.Met155Thr	missense variant	-	NC_000001.11:g.26951917A>G	NCI-TCGA
rs147716816	p.Met155Val	missense variant	-	NC_000001.11:g.26951918T>C	ESP,ExAC,TOPMed,gnomAD
rs1342284055	p.Gly156Ser	missense variant	-	NC_000001.11:g.26951915C>T	gnomAD
rs756824633	p.Ser160Thr	missense variant	-	NC_000001.11:g.26951902C>G	ExAC,TOPMed,gnomAD
COSM907805	p.Asp163Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951894C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly168Asp	missense variant	-	NC_000001.11:g.26951878C>T	NCI-TCGA
NCI-TCGA novel	p.Pro170Leu	missense variant	-	NC_000001.11:g.26951872G>A	NCI-TCGA
rs755657572	p.Val171Leu	missense variant	-	NC_000001.11:g.26951870C>A	ExAC,gnomAD
COSM4031059	p.Tyr172His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951867A>G	NCI-TCGA Cosmic
rs1411441965	p.Pro173Thr	missense variant	-	NC_000001.11:g.26951864G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr174Cys	missense variant	-	NC_000001.11:g.26951860T>C	NCI-TCGA
rs767193569	p.Pro175Leu	missense variant	-	NC_000001.11:g.26951857G>A	ExAC,TOPMed,gnomAD
rs751490034	p.Ala177Ser	missense variant	-	NC_000001.11:g.26951852C>A	ExAC,gnomAD
rs765356214	p.Ala177Asp	missense variant	-	NC_000001.11:g.26951851G>T	ExAC,TOPMed,gnomAD
rs1443532206	p.Pro180Ser	missense variant	-	NC_000001.11:g.26951843G>A	gnomAD
rs761892290	p.Asp183His	missense variant	-	NC_000001.11:g.26951834C>G	ExAC,gnomAD
rs199575697	p.Ala184Val	missense variant	-	NC_000001.11:g.26951830G>A	1000Genomes,ExAC,gnomAD
rs199575697	p.Ala184Gly	missense variant	-	NC_000001.11:g.26951830G>C	1000Genomes,ExAC,gnomAD
rs1201149191	p.Ala184Thr	missense variant	-	NC_000001.11:g.26951831C>T	TOPMed,gnomAD
rs1170965711	p.Asp185Ala	missense variant	-	NC_000001.11:g.26951827T>G	TOPMed
rs1018990840	p.Ser186Phe	missense variant	-	NC_000001.11:g.26951824G>A	TOPMed,gnomAD
rs34291506	p.Lys189Arg	missense variant	-	NC_000001.11:g.26951815T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746444382	p.Glu190Lys	missense variant	-	NC_000001.11:g.26951813C>T	ExAC,gnomAD
rs149743404	p.Glu190Gly	missense variant	-	NC_000001.11:g.26951812T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1312743402	p.Leu192Pro	missense variant	-	NC_000001.11:g.26951806A>G	gnomAD
rs748813446	p.Asp194Asn	missense variant	-	NC_000001.11:g.26951801C>T	ExAC,TOPMed,gnomAD
rs1439642365	p.Pro195His	missense variant	-	NC_000001.11:g.26951797G>T	TOPMed
rs777367914	p.Pro196Arg	missense variant	-	NC_000001.11:g.26951794G>C	ExAC,TOPMed,gnomAD
rs747723043	p.Pro197Thr	missense variant	-	NC_000001.11:g.26951792G>T	ExAC,TOPMed,gnomAD
rs781107975	p.Met198Val	missense variant	-	NC_000001.11:g.26951789T>C	ExAC,TOPMed,gnomAD
rs1382860363	p.Met198Ile	missense variant	-	NC_000001.11:g.26951787C>G	gnomAD
rs754712166	p.Arg199Ter	stop gained	-	NC_000001.11:g.26951786G>A	ExAC,gnomAD
rs751293758	p.Arg199Gln	missense variant	-	NC_000001.11:g.26951785C>T	ExAC,TOPMed,gnomAD
rs766306128	p.Ser201Arg	missense variant	-	NC_000001.11:g.26951778G>C	ExAC,TOPMed,gnomAD
rs1180072361	p.Ser204Thr	missense variant	-	NC_000001.11:g.26951770C>G	gnomAD
rs145994096	p.Thr205Ala	missense variant	-	NC_000001.11:g.26951768T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs374676574	p.Ser208Gly	missense variant	-	NC_000001.11:g.26951759T>C	ESP,ExAC,TOPMed,gnomAD
rs1274898072	p.Pro210Thr	missense variant	-	NC_000001.11:g.26951753G>T	gnomAD
NCI-TCGA novel	p.Pro210Ser	missense variant	-	NC_000001.11:g.26951753G>A	NCI-TCGA
rs772927829	p.Arg211Cys	missense variant	-	NC_000001.11:g.26951750G>A	ExAC,gnomAD
rs761001620	p.Arg211His	missense variant	-	NC_000001.11:g.26951749C>T	ExAC,TOPMed,gnomAD
rs767984255	p.Gly212Asp	missense variant	-	NC_000001.11:g.26951746C>T	ExAC,TOPMed,gnomAD
rs767984255	p.Gly212Val	missense variant	-	NC_000001.11:g.26951746C>A	ExAC,TOPMed,gnomAD
rs771599585	p.Glu214Lys	missense variant	-	NC_000001.11:g.26951741C>T	ExAC,TOPMed,gnomAD
rs1439734183	p.Glu215Lys	missense variant	-	NC_000001.11:g.26951738C>T	gnomAD
NCI-TCGA novel	p.Tyr216Ter	missense variant	-	NC_000001.11:g.26951733G>C	NCI-TCGA
rs771990259	p.Tyr217Cys	missense variant	-	NC_000001.11:g.26951731T>C	ExAC,TOPMed,gnomAD
rs771990259	p.Tyr217Ser	missense variant	-	NC_000001.11:g.26951731T>G	ExAC,TOPMed,gnomAD
rs141390568	p.Phe219Leu	missense variant	-	NC_000001.11:g.26951724G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1193215684	p.Phe219Ser	missense variant	-	NC_000001.11:g.26951725A>G	TOPMed
rs894118968	p.Ser222Leu	missense variant	-	NC_000001.11:g.26951716G>A	TOPMed,gnomAD
rs746835693	p.Asp223Tyr	missense variant	-	NC_000001.11:g.26951714C>A	ExAC,gnomAD
rs369086580	p.Asp225Glu	missense variant	-	NC_000001.11:g.26951706G>T	ESP,TOPMed,gnomAD
rs779779172	p.Pro227Ser	missense variant	-	NC_000001.11:g.26951702G>A	ExAC,gnomAD
rs1222040567	p.Pro227Arg	missense variant	-	NC_000001.11:g.26951701G>C	TOPMed
rs1222040567	p.Pro227Leu	missense variant	-	NC_000001.11:g.26951701G>A	TOPMed
rs374964459	p.Glu228Ala	missense variant	-	NC_000001.11:g.26951698T>G	ESP,ExAC,TOPMed,gnomAD
COSM907803	p.Glu228Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951699C>T	NCI-TCGA Cosmic
rs1489929248	p.Gly230Ser	missense variant	-	NC_000001.11:g.26951693C>T	gnomAD
rs777979399	p.Ser231Gly	missense variant	-	NC_000001.11:g.26951690T>C	ExAC,TOPMed,gnomAD
rs756134971	p.Gly232Ser	missense variant	-	NC_000001.11:g.26951687C>T	ExAC,TOPMed,gnomAD
rs1283470177	p.Met234Ile	missense variant	-	NC_000001.11:g.26951679C>A	gnomAD
rs1446555798	p.Met234Thr	missense variant	-	NC_000001.11:g.26951680A>G	gnomAD
rs371743170	p.Ser235Leu	missense variant	-	NC_000001.11:g.26951677G>A	ESP,ExAC,TOPMed,gnomAD
rs758651584	p.Arg237Gln	missense variant	-	NC_000001.11:g.26951671C>T	gnomAD
rs758651584	p.Arg237Pro	missense variant	-	NC_000001.11:g.26951671C>G	gnomAD
rs766818287	p.Leu242Phe	missense variant	-	NC_000001.11:g.26951657G>A	ExAC,gnomAD
COSM6063101	p.Ile243Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951653A>G	NCI-TCGA Cosmic
rs763620227	p.Phe244Leu	missense variant	-	NC_000001.11:g.26951649G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu249AlaPheSerTerUnk	frameshift	-	NC_000001.11:g.26951634_26951635CT>-	NCI-TCGA
rs1057519508	p.Phe251Leu	missense variant	-	NC_000001.11:g.26951628G>T	-
RCV000416757	p.Phe251Leu	missense variant	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12)	NC_000001.11:g.26951628G>T	ClinVar
rs770274619	p.Val253Ile	missense variant	-	NC_000001.11:g.26951624C>T	ExAC,gnomAD
rs761230977	p.Asp257Asn	missense variant	-	NC_000001.11:g.26951612C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu258Asp	missense variant	-	NC_000001.11:g.26951607C>G	NCI-TCGA
rs1046987033	p.Leu259Met	missense variant	-	NC_000001.11:g.26951606G>T	gnomAD
rs1485546031	p.Thr263Ser	missense variant	-	NC_000001.11:g.26951594T>A	gnomAD
rs555440089	p.Ser273Ile	missense variant	-	NC_000001.11:g.26951563C>A	1000Genomes,ExAC,gnomAD
rs555440089	p.Ser273Asn	missense variant	-	NC_000001.11:g.26951563C>T	1000Genomes,ExAC,gnomAD
rs1489265925	p.Asp277Gly	missense variant	-	NC_000001.11:g.26951551T>C	TOPMed
rs778729019	p.Ile279Ser	missense variant	-	NC_000001.11:g.26951545A>C	ExAC,gnomAD
COSM907801	p.Ser280Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951542C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser281Asn	missense variant	-	NC_000001.11:g.26951539C>T	NCI-TCGA
rs757152014	p.Ile282Val	missense variant	-	NC_000001.11:g.26951537T>C	ExAC,TOPMed,gnomAD
rs372248277	p.Thr283Met	missense variant	-	NC_000001.11:g.26951533G>A	ESP,ExAC,TOPMed,gnomAD
rs755290067	p.Gln284His	missense variant	-	NC_000001.11:g.26951529C>G	ExAC,gnomAD
rs1267926055	p.Asp285Tyr	missense variant	-	NC_000001.11:g.26951528C>A	gnomAD
COSM4852598	p.Gln291Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26951510G>A	NCI-TCGA Cosmic
rs751825325	p.Asp292Val	missense variant	-	NC_000001.11:g.26951506T>A	ExAC,gnomAD
rs368880136	p.Glu294Lys	missense variant	-	NC_000001.11:g.26951501C>T	ESP,ExAC,gnomAD
rs1468559178	p.Arg296Cys	missense variant	-	NC_000001.11:g.26951495G>A	gnomAD
rs1356645212	p.Arg296Leu	missense variant	-	NC_000001.11:g.26951494C>A	TOPMed,gnomAD
rs1428166482	p.Arg299Cys	missense variant	-	NC_000001.11:g.26951486G>A	gnomAD
rs750729459	p.Arg299His	missense variant	-	NC_000001.11:g.26951485C>T	ExAC,gnomAD
rs762329870	p.Gly300Ser	missense variant	-	NC_000001.11:g.26951483C>T	ExAC,TOPMed,gnomAD
rs1182987192	p.Ile301Val	missense variant	-	NC_000001.11:g.26951480T>C	gnomAD
rs763566861	p.Ile302Val	missense variant	-	NC_000001.11:g.26951477T>C	ExAC,gnomAD
rs760390089	p.Arg303His	missense variant	-	NC_000001.11:g.26951473C>T	ExAC,gnomAD
COSM907800	p.Arg303Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951474G>A	NCI-TCGA Cosmic
rs1306524391	p.Arg307Gln	missense variant	-	NC_000001.11:g.26951461C>T	gnomAD
rs775113713	p.Arg307Gly	missense variant	-	NC_000001.11:g.26951462G>C	ExAC,gnomAD
rs1247514208	p.Lys308Arg	missense variant	-	NC_000001.11:g.26951458T>C	gnomAD
COSM907799	p.Lys308Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951457C>A	NCI-TCGA Cosmic
rs150297466	p.Arg310His	missense variant	-	NC_000001.11:g.26951452C>T	ESP,ExAC,TOPMed,gnomAD
rs774156596	p.Arg310Cys	missense variant	-	NC_000001.11:g.26951453G>A	ExAC,TOPMed,gnomAD
rs749216836	p.Ala311Ser	missense variant	-	NC_000001.11:g.26951450C>A	ExAC,gnomAD
rs781487247	p.Ala311Val	missense variant	-	NC_000001.11:g.26951449G>A	ExAC,gnomAD
rs1299130029	p.Arg312Cys	missense variant	-	NC_000001.11:g.26951447G>A	TOPMed,gnomAD
rs755094201	p.Arg312His	missense variant	-	NC_000001.11:g.26951446C>T	UniProt,dbSNP
VAR_035616	p.Arg312His	missense variant	-	NC_000001.11:g.26951446C>T	UniProt
rs755094201	p.Arg312His	missense variant	-	NC_000001.11:g.26951446C>T	ExAC,TOPMed,gnomAD
rs747027074	p.Gln314Ter	stop gained	-	NC_000001.11:g.26951441G>A	ExAC,gnomAD
rs1409661383	p.Gln314His	missense variant	-	NC_000001.11:g.26951439C>G	TOPMed
rs747027074	p.Gln314Glu	missense variant	-	NC_000001.11:g.26951441G>C	ExAC,gnomAD
rs780424265	p.Ser316Leu	missense variant	-	NC_000001.11:g.26951434G>A	ExAC,TOPMed,gnomAD
rs780155303	p.Glu317Lys	missense variant	-	NC_000001.11:g.26951432C>T	TOPMed,gnomAD
rs145055719	p.Arg319His	missense variant	-	NC_000001.11:g.26951425C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750772780	p.Arg319Cys	missense variant	-	NC_000001.11:g.26951426G>A	ExAC,gnomAD
rs1177543751	p.Thr321Ile	missense variant	-	NC_000001.11:g.26951419G>A	gnomAD
rs1252625327	p.Thr321Pro	missense variant	-	NC_000001.11:g.26951420T>G	gnomAD
rs1249155593	p.Arg322Gln	missense variant	-	NC_000001.11:g.26951416C>T	TOPMed,gnomAD
rs370336022	p.Arg322Trp	missense variant	-	NC_000001.11:g.26951417G>A	ESP,TOPMed,gnomAD
rs754368453	p.Ala325Thr	missense variant	-	NC_000001.11:g.26951408C>T	ExAC,gnomAD
rs1290427750	p.Ala325Val	missense variant	-	NC_000001.11:g.26951407G>A	gnomAD
rs1243202771	p.Thr327Asn	missense variant	-	NC_000001.11:g.26951401G>T	gnomAD
rs760195823	p.Ala328Thr	missense variant	-	NC_000001.11:g.26951399C>T	ExAC,TOPMed,gnomAD
rs1391168455	p.Ala329Val	missense variant	-	NC_000001.11:g.26951395G>A	gnomAD
rs1305120866	p.Pro331Arg	missense variant	-	NC_000001.11:g.26951389G>C	gnomAD
rs1371717230	p.Pro331Ala	missense variant	-	NC_000001.11:g.26951390G>C	gnomAD
rs1443795367	p.Ser333Asn	missense variant	-	NC_000001.11:g.26951383C>T	gnomAD
rs1161711556	p.Thr337Ile	missense variant	-	NC_000001.11:g.26951371G>A	gnomAD
rs767189794	p.Met338Thr	missense variant	-	NC_000001.11:g.26951368A>G	ExAC,gnomAD
rs759180556	p.Gly340Asp	missense variant	-	NC_000001.11:g.26951362C>T	ExAC,gnomAD
rs774065018	p.Gly342Asp	missense variant	-	NC_000001.11:g.26951356C>T	ExAC,gnomAD
rs1463908338	p.Thr349Ile	missense variant	-	NC_000001.11:g.26950750G>A	gnomAD
rs1463908338	p.Thr349Arg	missense variant	-	NC_000001.11:g.26950750G>C	gnomAD
rs1463908338	p.Thr349Lys	missense variant	-	NC_000001.11:g.26950750G>T	gnomAD
rs370854419	p.Gln351His	missense variant	-	NC_000001.11:g.26950743C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln351Arg	missense variant	-	NC_000001.11:g.26950744T>C	NCI-TCGA
rs751208270	p.Thr356Met	missense variant	-	NC_000001.11:g.26950729G>A	ExAC,TOPMed,gnomAD
rs1327048298	p.Thr357Ser	missense variant	-	NC_000001.11:g.26950727T>A	gnomAD
rs1433039862	p.Ala360Val	missense variant	-	NC_000001.11:g.26950717G>A	gnomAD
rs1338685304	p.Ala362Thr	missense variant	-	NC_000001.11:g.26950712C>T	gnomAD
rs769873686	p.Arg363Gly	missense variant	-	NC_000001.11:g.26950709G>C	ExAC,gnomAD
rs761818314	p.Arg363Gln	missense variant	-	NC_000001.11:g.26950708C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg363Leu	missense variant	-	NC_000001.11:g.26950708C>A	NCI-TCGA
NCI-TCGA novel	p.Pro367Ser	missense variant	-	NC_000001.11:g.26950697G>A	NCI-TCGA
rs376717814	p.Ala370Thr	missense variant	-	NC_000001.11:g.26950688C>T	ESP,ExAC,gnomAD
rs746135711	p.Ala370Val	missense variant	-	NC_000001.11:g.26950687G>A	ExAC
rs1191811766	p.Pro371Leu	missense variant	-	NC_000001.11:g.26950684G>A	gnomAD
rs1361176121	p.Gly372Glu	missense variant	-	NC_000001.11:g.26950151C>T	TOPMed
rs184302730	p.Pro374Ser	missense variant	-	NC_000001.11:g.26950146G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755395860	p.Ala375Glu	missense variant	-	NC_000001.11:g.26950142G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser376Thr	missense variant	-	NC_000001.11:g.26950139C>G	NCI-TCGA
rs1412246723	p.His377Arg	missense variant	-	NC_000001.11:g.26950136T>C	gnomAD
rs779407973	p.Ser379Leu	missense variant	-	NC_000001.11:g.26950130G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser379Ter	stop gained	-	NC_000001.11:g.26950130G>C	NCI-TCGA
rs201399957	p.Ser380Pro	missense variant	-	NC_000001.11:g.26950128A>G	ESP,ExAC,TOPMed,gnomAD
rs1180230314	p.Phe381Ser	missense variant	-	NC_000001.11:g.26950124A>G	gnomAD
rs144075796	p.Gly383Asp	missense variant	-	NC_000001.11:g.26950118C>T	ESP,ExAC,gnomAD
rs200294153	p.Asp385Asn	missense variant	-	NC_000001.11:g.26950113C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1450005457	p.Thr386Lys	missense variant	-	NC_000001.11:g.26950109G>T	gnomAD
rs374830839	p.Ser388Leu	missense variant	-	NC_000001.11:g.26950103G>A	ESP,ExAC,TOPMed,gnomAD
COSM4854553	p.Ser388Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26950103G>C	NCI-TCGA Cosmic
rs369560483	p.Ser389Leu	missense variant	-	NC_000001.11:g.26950100G>A	ESP,ExAC,TOPMed,gnomAD
rs139710191	p.Ala391Ser	missense variant	-	NC_000001.11:g.26950095C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala391Thr	missense variant	-	NC_000001.11:g.26950095C>T	NCI-TCGA
rs1346981782	p.Pro392Arg	missense variant	-	NC_000001.11:g.26950091G>C	gnomAD
rs201673543	p.Leu394Phe	missense variant	-	NC_000001.11:g.26950086G>A	TOPMed
rs769933905	p.Val396Met	missense variant	-	NC_000001.11:g.26950080C>T	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0020608	Hypodontia	disease	HPO
C0020620	Hypohidrosis	disease	HPO
C0020678	Hypotrichosis	disease	HPO
C0040427	Tooth Abnormalities	group	HPO
C0162836	Hidradenitis Suppurativa	disease	HPO
C0201657	C-reactive protein measurement	phenotype	GWASCAT
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASCAT
C0221260	Dystrophia unguium	disease	HPO
C0264169	Saddle nose	phenotype	HPO
C0265331	Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)	disease	ORPHANET
C0266052	Precocious exfoliation of primary tooth	phenotype	HPO
C0392885	High density lipoprotein measurement	phenotype	GWASCAT
C0423757	Thin skin	phenotype	HPO
C0553721	Diminished sweating	phenotype	HPO
C1527249	Colorectal Cancer	disease	UNIPROT
C1832455	Hypoplastic sweat glands	phenotype	HPO
C1862863	Sparse body hair	phenotype	HPO
C4021782	Abnormality of the fingernails	phenotype	HPO
C4310616	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE	disease	CLINVAR;CTD_human;UNIPROT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003334	keratinocyte development	IEA
GO:0010482	regulation of epidermal cell division	ISS
GO:0010482	regulation of epidermal cell division	IBA
GO:0010839	negative regulation of keratinocyte proliferation	IEA
GO:0016331	morphogenesis of embryonic epithelium	ISS
GO:0045606	positive regulation of epidermal cell differentiation	ISS
GO:0048589	developmental growth	ISS
GO:0060887	limb epidermis development	ISS
GO:0061436	establishment of skin barrier	ISS
GO:2000647	negative regulation of stem cell proliferation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	ISS
GO:0005938	cell cortex	IEA
GO:0030054	cell junction	ISS
GO:0030054	cell junction	IDA
GO:0030054	cell junction	IBA
GO:0031252	cell leading edge	IEA
GO:0072686	mitotic spindle	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C006718	1,12-benzoperylene	1,12-benzoperylene results in increased expression of KDF1 mRNA	26377693
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of KDF1 mRNA	25088246
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KDF1 mRNA	27188386
D020106	Acrylamide	Acrylamide results in increased expression of KDF1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of KDF1 exon	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of KDF1 mRNA	21839799
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of KDF1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of KDF1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of KDF1 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of KDF1 mRNA	26079696
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of KDF1 mRNA	19549813
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KDF1 mRNA	27188386
D017313	Fenretinide	Fenretinide results in increased expression of KDF1 mRNA	28973697
C004312	glycidol	glycidol results in increased expression of KDF1 mRNA	24395379
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of KDF1 mRNA	26752646
C046012	pentanal	pentanal results in decreased expression of KDF1 mRNA	26079696
D010936	Plant Extracts	Plant Extracts results in decreased expression of KDF1 mRNA	23557933
D011374	Progesterone	Progesterone results in decreased expression of KDF1 mRNA	23018184
D011374	Progesterone	Progesterone results in increased expression of KDF1 mRNA	23018184
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of KDF1 mRNA	24780913
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of KDF1 mRNA	26377647
D014520	Urethane	Urethane results in decreased expression of KDF1 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KDF1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of KDF1 mRNA	26272509
D014635	Valproic Acid	Valproic Acid results in increased methylation of KDF1 gene	29154799

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0965	Cell junction
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0038	Ectodermal dysplasia
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR028003	KDF1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF15551	DUF4656

Gene: KDF1

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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