CleftGeneDB-Search

Gene: PKDCC

Basic information

Tag	Content
Uniprot ID	Q504Y2; D6W5A0; Q96I09;
Entrez ID	91461
Genbank protein ID	AAI10515.1; AAH07901.2; EAX00325.1; AAH62988.1; AAI10514.1; EAX00326.1; AAH94697.1;
Genbank nucleotide ID	NM_138370.2
Ensembl protein ID	ENSP00000294964
Ensembl nucleotide ID	ENSG00000162878
Gene name	Extracellular tyrosine-protein kinase PKDCC
Gene symbol	PKDCC
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29 (PubMed:25171405). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405). May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation. May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (By similarity).
Sequence	MRRRRAAVAA GFCASFLLGS VLNVLFAPGS EPPRPGQSPE PSPAPGPGRR GGRGELARQI 60 RARYEEVQRY SRGGPGPGAG RPERRRLMDL APGGPGLPRP RPPWARPLSD GAPGWPPAPG 120 PGSPGPGPRL GCAALRNVSG AQYMGSGYTK AVYRVRLPGG AAVALKAVDF SGHDLGSCVR 180 EFGVRRGCYR LAAHKLLKEM VLLERLRHPN VLQLYGYCYQ DSEDIPDTLT TITELGAPVE 240 MIQLLQTSWE DRFRICLSLG RLLHHLAHSP LGSVTLLDFR PRQFVLVDGE LKVTDLDDAR 300 VEETPCAGST DCILEFPARN FTLPCSAQGW CEGMNEKRNL YNAYRFFFTY LLPHSAPPSL 360 RPLLDSIVNA TGELAWGVDE TLAQLEKVLH LYRSGQYLQN STASSSTEYQ CIPDSTIPQE 420 DYRCWPSYHH GSCLLSVFNL AEAVDVCESH AQCRAFVVTN QTTWTGRQLV FFKTGWSQVV 480 PDPNKTTYVK ASG 493

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

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	PKDCC	102177986	A0A452E7H5		Capra hircus	Prediction	More>>
1:1 ortholog	PKDCC	91461	Q504Y2		Homo sapiens	Prediction	More>>
1:1 ortholog	Pkdcc	106522	Q5RJI4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PKDCC		H2QHT1		Pan troglodytes	Prediction	More>>
1:1 ortholog	PKDCC		F1S4U8		Sus scrofa	Prediction	More>>
1:1 ortholog	pkdcca		F1QBU5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1231456931	p.Arg3Pro	missense variant	-	NC_000002.12:g.42048207G>C	TOPMed,gnomAD
rs1231456931	p.Arg3His	missense variant	-	NC_000002.12:g.42048207G>A	TOPMed,gnomAD
rs1346687208	p.Arg3Cys	missense variant	-	NC_000002.12:g.42048206C>T	gnomAD
rs1485977489	p.Arg4Gln	missense variant	-	NC_000002.12:g.42048210G>A	gnomAD
rs1268143326	p.Arg5Trp	missense variant	-	NC_000002.12:g.42048212C>T	TOPMed
rs1240260550	p.Ala6Thr	missense variant	-	NC_000002.12:g.42048215G>A	TOPMed,gnomAD
rs758398844	p.Ala6Gly	missense variant	-	NC_000002.12:g.42048216C>G	ExAC,TOPMed,gnomAD
rs758398844	p.Ala6Val	missense variant	-	NC_000002.12:g.42048216C>T	ExAC,TOPMed,gnomAD
rs1363782979	p.Ala7Pro	missense variant	-	NC_000002.12:g.42048218G>C	TOPMed
rs1186882610	p.Ala7Glu	missense variant	-	NC_000002.12:g.42048219C>A	gnomAD
rs1391077543	p.Ala9Val	missense variant	-	NC_000002.12:g.42048225C>T	TOPMed,gnomAD
rs1033131332	p.Ala10Val	missense variant	-	NC_000002.12:g.42048228C>T	TOPMed,gnomAD
rs1033131332	p.Ala10Glu	missense variant	-	NC_000002.12:g.42048228C>A	TOPMed,gnomAD
rs1396921050	p.Gly11Ser	missense variant	-	NC_000002.12:g.42048230G>A	gnomAD
rs1377786491	p.Ser15Cys	missense variant	-	NC_000002.12:g.42048243C>G	TOPMed
rs1197713542	p.Phe16Cys	missense variant	-	NC_000002.12:g.42048246T>G	TOPMed
rs1318295586	p.Phe16Leu	missense variant	-	NC_000002.12:g.42048247C>A	gnomAD
rs1479273376	p.Leu17Gln	missense variant	-	NC_000002.12:g.42048249T>A	TOPMed
rs746808292	p.Gly19Asp	missense variant	-	NC_000002.12:g.42048255G>A	ExAC,gnomAD
rs746808292	p.Gly19Val	missense variant	-	NC_000002.12:g.42048255G>T	ExAC,gnomAD
rs1438212729	p.Val21Ile	missense variant	-	NC_000002.12:g.42048260G>A	gnomAD
rs1345169400	p.Leu22Pro	missense variant	-	NC_000002.12:g.42048264T>C	gnomAD
rs1305021180	p.Leu22Phe	missense variant	-	NC_000002.12:g.42048263C>T	TOPMed,gnomAD
rs1282149311	p.Asn23Thr	missense variant	-	NC_000002.12:g.42048267A>C	gnomAD
rs1222676195	p.Asn23Tyr	missense variant	-	NC_000002.12:g.42048266A>T	TOPMed,gnomAD
rs913757077	p.Asn23Lys	missense variant	-	NC_000002.12:g.42048268C>A	TOPMed,gnomAD
rs1209132606	p.Val24Leu	missense variant	-	NC_000002.12:g.42048269G>C	TOPMed,gnomAD
rs1209132606	p.Val24Met	missense variant	-	NC_000002.12:g.42048269G>A	TOPMed,gnomAD
rs1209132606	p.Val24Leu	missense variant	-	NC_000002.12:g.42048269G>T	TOPMed,gnomAD
rs1252070385	p.Ala27Ser	missense variant	-	NC_000002.12:g.42048278G>T	TOPMed,gnomAD
rs1252070385	p.Ala27Pro	missense variant	-	NC_000002.12:g.42048278G>C	TOPMed,gnomAD
rs1468226159	p.Pro28Thr	missense variant	-	NC_000002.12:g.42048281C>A	gnomAD
rs1255090537	p.Gly29Arg	missense variant	-	NC_000002.12:g.42048284G>C	TOPMed,gnomAD
rs768518999	p.Ser30Leu	missense variant	-	NC_000002.12:g.42048288C>T	ExAC,TOPMed,gnomAD
rs1335622852	p.Gly36Ser	missense variant	-	NC_000002.12:g.42048305G>A	TOPMed
rs1406442141	p.Ser38Cys	missense variant	-	NC_000002.12:g.42048312C>G	TOPMed,gnomAD
rs1445174364	p.Pro39Thr	missense variant	-	NC_000002.12:g.42048314C>A	TOPMed,gnomAD
rs1445174364	p.Pro39Ser	missense variant	-	NC_000002.12:g.42048314C>T	TOPMed,gnomAD
rs1445174364	p.Pro39Ala	missense variant	-	NC_000002.12:g.42048314C>G	TOPMed,gnomAD
rs1413752418	p.Glu40Gln	missense variant	-	NC_000002.12:g.42048317G>C	TOPMed
rs1373582759	p.Ser42Leu	missense variant	-	NC_000002.12:g.42048324C>T	TOPMed,gnomAD
rs1230732775	p.Pro43Gln	missense variant	-	NC_000002.12:g.42048327C>A	TOPMed
rs920932597	p.Pro45Leu	missense variant	-	NC_000002.12:g.42048333C>T	TOPMed
rs1411460145	p.Gly46Arg	missense variant	-	NC_000002.12:g.42048335G>C	gnomAD
rs780735438	p.Gly46Asp	missense variant	-	NC_000002.12:g.42048336G>A	ExAC,TOPMed,gnomAD
rs1321624797	p.Gly48Asp	missense variant	-	NC_000002.12:g.42048342G>A	TOPMed
rs1270257999	p.Arg50Cys	missense variant	-	NC_000002.12:g.42048347C>T	TOPMed
rs1229022833	p.Gly52Val	missense variant	-	NC_000002.12:g.42048354G>T	TOPMed
rs1277928800	p.Gly54Arg	missense variant	-	NC_000002.12:g.42048359G>A	TOPMed
rs1331322341	p.Arg58Gln	missense variant	-	NC_000002.12:g.42048372G>A	TOPMed,gnomAD
rs1440911130	p.Arg61Gln	missense variant	-	NC_000002.12:g.42048381G>A	gnomAD
rs1277200696	p.Ala62Glu	missense variant	-	NC_000002.12:g.42048384C>A	TOPMed,gnomAD
rs1264921818	p.Tyr64Cys	missense variant	-	NC_000002.12:g.42048390A>G	gnomAD
rs1048062777	p.Val67Met	missense variant	-	NC_000002.12:g.42048398G>A	TOPMed
rs939786340	p.Arg69Pro	missense variant	-	NC_000002.12:g.42048405G>C	TOPMed,gnomAD
rs1405122434	p.Ser71Phe	missense variant	-	NC_000002.12:g.42048411C>T	TOPMed
rs1255649304	p.Arg72Gly	missense variant	-	NC_000002.12:g.42048413C>G	TOPMed,gnomAD
rs896010685	p.Gly74Val	missense variant	-	NC_000002.12:g.42048420G>T	TOPMed
rs896010685	p.Gly74Asp	missense variant	-	NC_000002.12:g.42048420G>A	TOPMed
rs1209597663	p.Gly76Arg	missense variant	-	NC_000002.12:g.42048425G>A	TOPMed
rs1282177377	p.Pro77Thr	missense variant	-	NC_000002.12:g.42048428C>A	TOPMed
rs1184795406	p.Gly78Arg	missense variant	-	NC_000002.12:g.42048431G>C	TOPMed,gnomAD
rs1244492040	p.Gly78Ala	missense variant	-	NC_000002.12:g.42048432G>C	TOPMed
rs1249994947	p.Arg81Leu	missense variant	-	NC_000002.12:g.42048441G>T	TOPMed,gnomAD
rs1429566353	p.Pro82Leu	missense variant	-	NC_000002.12:g.42048444C>T	TOPMed
rs1332471083	p.Pro82Ser	missense variant	-	NC_000002.12:g.42048443C>T	gnomAD
rs1324908044	p.Glu83Gly	missense variant	-	NC_000002.12:g.42048447A>G	TOPMed
rs1405451431	p.Arg84Pro	missense variant	-	NC_000002.12:g.42048450G>C	TOPMed
rs1215332186	p.Arg84Gly	missense variant	-	NC_000002.12:g.42048449C>G	gnomAD
rs1161584567	p.Arg86Cys	missense variant	-	NC_000002.12:g.42048455C>T	TOPMed
rs1390528717	p.Asp89Glu	missense variant	-	NC_000002.12:g.42048466C>A	TOPMed
rs1292367097	p.Asp89His	missense variant	-	NC_000002.12:g.42048464G>C	TOPMed,gnomAD
rs1185732802	p.Leu90Pro	missense variant	-	NC_000002.12:g.42048468T>C	TOPMed
rs1487956241	p.Ala91Thr	missense variant	-	NC_000002.12:g.42048470G>A	TOPMed
rs1291214357	p.Gly94Val	missense variant	-	NC_000002.12:g.42048480G>T	TOPMed
rs1023670709	p.Gly94Arg	missense variant	-	NC_000002.12:g.42048479G>A	TOPMed,gnomAD
rs1452347989	p.Pro95Ser	missense variant	-	NC_000002.12:g.42048482C>T	TOPMed,gnomAD
rs1427835337	p.Gly96Ser	missense variant	-	NC_000002.12:g.42048485G>A	TOPMed,gnomAD
rs571993173	p.Arg99Leu	missense variant	-	NC_000002.12:g.42048495G>T	1000Genomes,TOPMed
rs1359349147	p.Pro100Thr	missense variant	-	NC_000002.12:g.42048497C>A	TOPMed
rs534596867	p.Pro102Ala	missense variant	-	NC_000002.12:g.42048503C>G	1000Genomes,TOPMed,gnomAD
rs1000563945	p.Pro103Arg	missense variant	-	NC_000002.12:g.42048507C>G	TOPMed
rs1300793345	p.Trp104Gly	missense variant	-	NC_000002.12:g.42048509T>G	TOPMed
rs1431530290	p.Ala105Thr	missense variant	-	NC_000002.12:g.42048512G>A	TOPMed
rs1471455992	p.Arg106Gln	missense variant	-	NC_000002.12:g.42048516G>A	TOPMed,gnomAD
rs1471455992	p.Arg106Leu	missense variant	-	NC_000002.12:g.42048516G>T	TOPMed,gnomAD
rs1033026523	p.Pro107Arg	missense variant	-	NC_000002.12:g.42048519C>G	TOPMed,gnomAD
rs1349711661	p.Ser109Phe	missense variant	-	NC_000002.12:g.42048525C>T	gnomAD
rs187184761	p.Ser109Pro	missense variant	-	NC_000002.12:g.42048524T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs543645793	p.Gly111Ser	missense variant	-	NC_000002.12:g.42048530G>A	1000Genomes
rs769233885	p.Gly111Val	missense variant	-	NC_000002.12:g.42048531G>T	ExAC,TOPMed,gnomAD
rs988919629	p.Ala112Gly	missense variant	-	NC_000002.12:g.42048534C>G	TOPMed,gnomAD
rs1252411814	p.Pro113Arg	missense variant	-	NC_000002.12:g.42048537C>G	TOPMed
rs1020789099	p.Pro116Ser	missense variant	-	NC_000002.12:g.42048545C>T	TOPMed,gnomAD
rs1391016176	p.Pro117Gln	missense variant	-	NC_000002.12:g.42048549C>A	gnomAD
rs1219418616	p.Pro119Ser	missense variant	-	NC_000002.12:g.42048554C>T	TOPMed
rs1326313940	p.Gly122Cys	missense variant	-	NC_000002.12:g.42048563G>T	TOPMed,gnomAD
rs1355720763	p.Gly122Val	missense variant	-	NC_000002.12:g.42048564G>T	gnomAD
rs1353475476	p.Ser123Tyr	missense variant	-	NC_000002.12:g.42048567C>A	gnomAD
rs1234925125	p.Gly125Ser	missense variant	-	NC_000002.12:g.42048572G>A	gnomAD
rs1343157207	p.Pro126Ser	missense variant	-	NC_000002.12:g.42048575C>T	gnomAD
rs1284502828	p.Pro126Arg	missense variant	-	NC_000002.12:g.42048576C>G	gnomAD
rs1195396156	p.Gly127Ser	missense variant	-	NC_000002.12:g.42048578G>A	gnomAD
rs1271122672	p.Gly127Val	missense variant	-	NC_000002.12:g.42048579G>T	gnomAD
rs1271122672	p.Gly127Asp	missense variant	-	NC_000002.12:g.42048579G>A	gnomAD
rs1474479542	p.Gly131Cys	missense variant	-	NC_000002.12:g.42048590G>T	TOPMed,gnomAD
rs921140231	p.Ala134Thr	missense variant	-	NC_000002.12:g.42048599G>A	TOPMed
rs1369368747	p.Ala134Val	missense variant	-	NC_000002.12:g.42048600C>T	gnomAD
rs1165839343	p.Leu135Phe	missense variant	-	NC_000002.12:g.42048602C>T	gnomAD
rs1482958954	p.Asn137Asp	missense variant	-	NC_000002.12:g.42048608A>G	gnomAD
rs1429904287	p.Asn137Lys	missense variant	-	NC_000002.12:g.42048610C>A	TOPMed,gnomAD
rs1421204784	p.Asn137Ser	missense variant	-	NC_000002.12:g.42048609A>G	TOPMed,gnomAD
rs1421204784	p.Asn137Thr	missense variant	-	NC_000002.12:g.42048609A>C	TOPMed,gnomAD
rs1373569536	p.Ser139Tyr	missense variant	-	NC_000002.12:g.42048615C>A	TOPMed,gnomAD
rs1416501249	p.Gly140Cys	missense variant	-	NC_000002.12:g.42048617G>T	gnomAD
rs1239560427	p.Ala141Val	missense variant	-	NC_000002.12:g.42048621C>T	TOPMed
rs1325693451	p.Met144Val	missense variant	-	NC_000002.12:g.42048629A>G	TOPMed,gnomAD
rs1224929255	p.Met144Ile	missense variant	-	NC_000002.12:g.42048631G>T	gnomAD
rs1325693451	p.Met144Leu	missense variant	-	NC_000002.12:g.42048629A>C	TOPMed,gnomAD
rs1477286659	p.Gly145Asp	missense variant	-	NC_000002.12:g.42048633G>A	TOPMed,gnomAD
rs573873941	p.Thr149Ile	missense variant	-	NC_000002.12:g.42048645C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1229248203	p.Thr149Ala	missense variant	-	NC_000002.12:g.42048644A>G	gnomAD
rs573873941	p.Thr149Asn	missense variant	-	NC_000002.12:g.42048645C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772572329	p.Val152Met	missense variant	-	NC_000002.12:g.42048653G>A	ExAC,gnomAD
rs1446855240	p.Arg154Trp	missense variant	-	NC_000002.12:g.42048659C>T	gnomAD
rs1191474017	p.Arg154Leu	missense variant	-	NC_000002.12:g.42048660G>T	gnomAD
rs1449631793	p.Val155Ile	missense variant	-	NC_000002.12:g.42048662G>A	gnomAD
rs754048219	p.Arg156Leu	missense variant	-	NC_000002.12:g.42048666G>T	ExAC,TOPMed,gnomAD
rs764481532	p.Arg156Cys	missense variant	-	NC_000002.12:g.42048665C>T	ExAC,gnomAD
rs754048219	p.Arg156His	missense variant	-	NC_000002.12:g.42048666G>A	ExAC,TOPMed,gnomAD
rs932593515	p.Leu157Val	missense variant	-	NC_000002.12:g.42048668C>G	TOPMed,gnomAD
rs1303172183	p.Pro158Arg	missense variant	-	NC_000002.12:g.42048672C>G	TOPMed
rs765293699	p.Gly159Cys	missense variant	-	NC_000002.12:g.42048674G>T	ExAC
rs1319973488	p.Gly159Asp	missense variant	-	NC_000002.12:g.42048675G>A	gnomAD
rs758488715	p.Gly160Cys	missense variant	-	NC_000002.12:g.42048677G>T	ExAC,TOPMed,gnomAD
rs758488715	p.Gly160Ser	missense variant	-	NC_000002.12:g.42048677G>A	ExAC,TOPMed,gnomAD
rs961640257	p.Ala162Val	missense variant	-	NC_000002.12:g.42048684C>T	TOPMed
rs1302790197	p.Val163Leu	missense variant	-	NC_000002.12:g.42048686G>C	gnomAD
rs1302790197	p.Val163Met	missense variant	-	NC_000002.12:g.42048686G>A	gnomAD
rs1235473044	p.Ala164Val	missense variant	-	NC_000002.12:g.42048690C>T	TOPMed,gnomAD
rs1425088765	p.Leu165Phe	missense variant	-	NC_000002.12:g.42048692C>T	gnomAD
rs1350521769	p.Lys166Arg	missense variant	-	NC_000002.12:g.42048696A>G	gnomAD
rs1250250680	p.Ala167Val	missense variant	-	NC_000002.12:g.42048699C>T	TOPMed,gnomAD
rs1465085245	p.Val168Met	missense variant	-	NC_000002.12:g.42048701G>A	gnomAD
rs1416591714	p.Phe170Leu	missense variant	-	NC_000002.12:g.42048707T>C	TOPMed
rs781015864	p.Ser171Arg	missense variant	-	NC_000002.12:g.42048712C>G	ExAC,gnomAD
rs1434468545	p.Gly172Cys	missense variant	-	NC_000002.12:g.42048713G>T	gnomAD
rs1363169414	p.Asp174Gly	missense variant	-	NC_000002.12:g.42048720A>G	TOPMed,gnomAD
rs1161136954	p.Leu175Val	missense variant	-	NC_000002.12:g.42048722C>G	gnomAD
rs895978140	p.Gly176Arg	missense variant	-	NC_000002.12:g.42048725G>C	TOPMed
rs1325525407	p.Val179Leu	missense variant	-	NC_000002.12:g.42048734G>C	TOPMed,gnomAD
rs1388609605	p.Arg180Gly	missense variant	-	NC_000002.12:g.42048737C>G	gnomAD
rs1301992108	p.Arg180Leu	missense variant	-	NC_000002.12:g.42048738G>T	TOPMed,gnomAD
rs1388609605	p.Arg180Ser	missense variant	-	NC_000002.12:g.42048737C>A	gnomAD
rs747485675	p.Glu181Ter	stop gained	-	NC_000002.12:g.42048740G>T	ExAC,gnomAD
rs768951954	p.Glu181Val	missense variant	-	NC_000002.12:g.42048741A>T	ExAC,TOPMed,gnomAD
rs932750180	p.Phe182Leu	missense variant	-	NC_000002.12:g.42048745C>A	gnomAD
rs777043210	p.Gly183Val	missense variant	-	NC_000002.12:g.42048747G>T	ExAC,TOPMed,gnomAD
rs777043210	p.Gly183Glu	missense variant	-	NC_000002.12:g.42048747G>A	ExAC,TOPMed,gnomAD
rs1213457456	p.Val184Leu	missense variant	-	NC_000002.12:g.42048749G>T	gnomAD
rs531061920	p.Arg185Gly	missense variant	-	NC_000002.12:g.42048752C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs531061920	p.Arg185Trp	missense variant	-	NC_000002.12:g.42048752C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs765504841	p.Gly187Asp	missense variant	-	NC_000002.12:g.42048759G>A	ExAC,gnomAD
rs765504841	p.Gly187Ala	missense variant	-	NC_000002.12:g.42048759G>C	ExAC,gnomAD
rs765504841	p.Gly187Val	missense variant	-	NC_000002.12:g.42048759G>T	ExAC,gnomAD
rs763152634	p.Tyr189Phe	missense variant	-	NC_000002.12:g.42048765A>T	ExAC,TOPMed,gnomAD
rs763152634	p.Tyr189Ser	missense variant	-	NC_000002.12:g.42048765A>C	ExAC,TOPMed,gnomAD
rs766531345	p.Arg190Gly	missense variant	-	NC_000002.12:g.42048767C>G	ExAC,TOPMed
COSM3695511	p.Arg190Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42048768G>T	NCI-TCGA Cosmic
rs751594192	p.Leu191Val	missense variant	-	NC_000002.12:g.42048770C>G	ExAC,gnomAD
rs200172947	p.Ala192Val	missense variant	-	NC_000002.12:g.42048774C>T	ExAC,TOPMed,gnomAD
rs200172947	p.Ala192Gly	missense variant	-	NC_000002.12:g.42048774C>G	ExAC,TOPMed,gnomAD
rs752539182	p.Ala193Val	missense variant	-	NC_000002.12:g.42048777C>T	ExAC,gnomAD
rs752539182	p.Ala193Gly	missense variant	-	NC_000002.12:g.42048777C>G	ExAC,gnomAD
rs767281354	p.Ala193Thr	missense variant	-	NC_000002.12:g.42048776G>A	ExAC,gnomAD
rs755807038	p.His194Pro	missense variant	-	NC_000002.12:g.42048780A>C	ExAC
rs777424379	p.Leu196Val	missense variant	-	NC_000002.12:g.42048785C>G	ExAC,gnomAD
rs1294222456	p.Leu197Phe	missense variant	-	NC_000002.12:g.42048788C>T	gnomAD
rs748900018	p.Lys198Glu	missense variant	-	NC_000002.12:g.42048791A>G	ExAC,gnomAD
rs1408046530	p.Lys198Arg	missense variant	-	NC_000002.12:g.42048792A>G	TOPMed,gnomAD
rs1190933277	p.Lys198Asn	missense variant	-	NC_000002.12:g.42048793G>C	TOPMed
NCI-TCGA novel	p.Glu199Asp	missense variant	-	NC_000002.12:g.42048796G>T	NCI-TCGA
rs778374457	p.Leu202Val	missense variant	-	NC_000002.12:g.42048803C>G	ExAC,gnomAD
rs769204618	p.Arg205Gln	missense variant	-	NC_000002.12:g.42048813G>A	ExAC,TOPMed,gnomAD
rs1221783276	p.Arg205Gly	missense variant	-	NC_000002.12:g.42048812C>G	gnomAD
rs147555846	p.Arg207Trp	missense variant	-	NC_000002.12:g.42048818C>T	ESP,gnomAD
rs770010104	p.His208Arg	missense variant	-	NC_000002.12:g.42048822A>G	ExAC
rs1485267704	p.His208Tyr	missense variant	-	NC_000002.12:g.42048821C>T	gnomAD
rs1185572608	p.Pro209Leu	missense variant	-	NC_000002.12:g.42048825C>T	gnomAD
rs1415633821	p.Asn210Ser	missense variant	-	NC_000002.12:g.42048828A>G	gnomAD
rs1165805231	p.Val211Leu	missense variant	-	NC_000002.12:g.42048830G>C	gnomAD
rs773604639	p.Leu212Arg	missense variant	-	NC_000002.12:g.42048834T>G	ExAC,gnomAD
rs1427972419	p.Gln213His	missense variant	-	NC_000002.12:g.42048838G>T	gnomAD
rs763936517	p.Tyr215Cys	missense variant	-	NC_000002.12:g.42053243A>G	ExAC,gnomAD
rs960380621	p.Tyr215His	missense variant	-	NC_000002.12:g.42053242T>C	TOPMed,gnomAD
rs763936517	p.Tyr215Ser	missense variant	-	NC_000002.12:g.42053243A>C	ExAC,gnomAD
rs1190801542	p.Gly216Asp	missense variant	-	NC_000002.12:g.42053246G>A	gnomAD
RCV000624549	p.Tyr217Ter	nonsense	Inborn genetic diseases	NC_000002.12:g.42053250C>A	ClinVar
rs761532715	p.Tyr217Ter	stop gained	-	NC_000002.12:g.42053250C>A	ExAC,gnomAD
rs764887140	p.Cys218Tyr	missense variant	-	NC_000002.12:g.42053252G>A	ExAC,TOPMed,gnomAD
rs749998497	p.Gln220Lys	missense variant	-	NC_000002.12:g.42053257C>A	ExAC,gnomAD
rs757961879	p.Ser222Gly	missense variant	-	NC_000002.12:g.42053263A>G	ExAC,TOPMed,gnomAD
rs140342791	p.Ser222Asn	missense variant	-	NC_000002.12:g.42053264G>A	ESP,ExAC,TOPMed,gnomAD
rs140342791	p.Ser222Thr	missense variant	-	NC_000002.12:g.42053264G>C	ESP,ExAC,TOPMed,gnomAD
rs753303221	p.Glu223Lys	missense variant	-	NC_000002.12:g.42053266G>A	ExAC,TOPMed,gnomAD
rs180825578	p.Asp227Asn	missense variant	-	NC_000002.12:g.42053278G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749682229	p.Thr228Ile	missense variant	-	NC_000002.12:g.42053282C>T	ExAC,TOPMed,gnomAD
rs1433696280	p.Thr230Asn	missense variant	-	NC_000002.12:g.42053288C>A	gnomAD
rs771372919	p.Thr231Ala	missense variant	-	NC_000002.12:g.42053290A>G	ExAC,gnomAD
rs1223093331	p.Ile232Val	missense variant	-	NC_000002.12:g.42053293A>G	gnomAD
rs746047258	p.Thr233Met	missense variant	-	NC_000002.12:g.42053297C>T	ExAC,TOPMed,gnomAD
rs779227016	p.Thr233Ala	missense variant	-	NC_000002.12:g.42053296A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu234Lys	missense variant	-	NC_000002.12:g.42053299G>A	NCI-TCGA
rs1209116753	p.Glu234Asp	missense variant	-	NC_000002.12:g.42053301G>T	gnomAD
NCI-TCGA novel	p.Leu235Met	missense variant	-	NC_000002.12:g.42053302C>A	NCI-TCGA
rs1451191702	p.Gly236Asp	missense variant	-	NC_000002.12:g.42053306G>A	gnomAD
rs760674135	p.Ala237Asp	missense variant	-	NC_000002.12:g.42053309C>A	ExAC,gnomAD
rs34853050	p.Ala237Thr	missense variant	-	NC_000002.12:g.42053308G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768587129	p.Pro238Ser	missense variant	-	NC_000002.12:g.42053311C>T	ExAC,TOPMed,gnomAD
rs776496646	p.Val239Leu	missense variant	-	NC_000002.12:g.42053314G>C	ExAC,TOPMed,gnomAD
rs201582962	p.Ile242Met	missense variant	-	NC_000002.12:g.42053325C>G	ExAC,TOPMed,gnomAD
rs1393285527	p.Ile242Thr	missense variant	-	NC_000002.12:g.42053324T>C	gnomAD
rs764982138	p.Gln243Glu	missense variant	-	NC_000002.12:g.42053326C>G	ExAC,TOPMed,gnomAD
rs143773696	p.Gln246His	missense variant	-	NC_000002.12:g.42053337A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr247Asn	missense variant	-	NC_000002.12:g.42053339C>A	NCI-TCGA
rs765977836	p.Glu250Lys	missense variant	-	NC_000002.12:g.42053347G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu250ArgPheSerTerUnk	frameshift	-	NC_000002.12:g.42053345G>-	NCI-TCGA
rs201891287	p.Glu250Ala	missense variant	-	NC_000002.12:g.42053348A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs754477865	p.Arg252Ter	stop gained	-	NC_000002.12:g.42053353C>T	ExAC,gnomAD
rs754477865	p.Arg252Gly	missense variant	-	NC_000002.12:g.42053353C>G	ExAC,gnomAD
rs1292375492	p.Arg252Gln	missense variant	-	NC_000002.12:g.42053354G>A	gnomAD
rs1157657577	p.Phe253Ile	missense variant	-	NC_000002.12:g.42053356T>A	TOPMed
rs1157657577	p.Phe253Leu	missense variant	-	NC_000002.12:g.42053356T>C	TOPMed
rs754356956	p.Arg254Ter	stop gained	-	NC_000002.12:g.42053359C>T	ExAC,gnomAD
rs747965088	p.Arg254Pro	missense variant	-	NC_000002.12:g.42053360G>C	ExAC,TOPMed,gnomAD
rs754356956	p.Arg254Gly	missense variant	-	NC_000002.12:g.42053359C>G	ExAC,gnomAD
rs747965088	p.Arg254Leu	missense variant	-	NC_000002.12:g.42053360G>T	ExAC,TOPMed,gnomAD
rs747965088	p.Arg254Gln	missense variant	-	NC_000002.12:g.42053360G>A	ExAC,TOPMed,gnomAD
rs758735164	p.Ile255Phe	missense variant	-	NC_000002.12:g.42054036A>T	ExAC,gnomAD
rs1228763352	p.Ser258Ile	missense variant	-	NC_000002.12:g.42054046G>T	TOPMed
rs780166000	p.Ser258Arg	missense variant	-	NC_000002.12:g.42054045A>C	ExAC,gnomAD
rs747195223	p.Gly260Asp	missense variant	-	NC_000002.12:g.42054052G>A	ExAC,TOPMed,gnomAD
rs747195223	p.Gly260Val	missense variant	-	NC_000002.12:g.42054052G>T	ExAC,TOPMed,gnomAD
rs144832959	p.Arg261His	missense variant	-	NC_000002.12:g.42054055G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138808294	p.Arg261Gly	missense variant	-	NC_000002.12:g.42054054C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138808294	p.Arg261Cys	missense variant	-	NC_000002.12:g.42054054C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373676533	p.Leu262Arg	missense variant	-	NC_000002.12:g.42054058T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu263Val	missense variant	-	NC_000002.12:g.42054060C>G	NCI-TCGA
rs1465643382	p.Leu263His	missense variant	-	NC_000002.12:g.42054061T>A	TOPMed
rs1289303964	p.His264Arg	missense variant	-	NC_000002.12:g.42054064A>G	gnomAD
COSM721861	p.His265Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42054066C>A	NCI-TCGA Cosmic
rs749057996	p.Leu266Gln	missense variant	-	NC_000002.12:g.42054070T>A	ExAC,gnomAD
rs770718350	p.Ala267Thr	missense variant	-	NC_000002.12:g.42054072G>A	ExAC,TOPMed,gnomAD
rs1162072977	p.His268Tyr	missense variant	-	NC_000002.12:g.42054075C>T	TOPMed
rs1411726444	p.Pro270Leu	missense variant	-	NC_000002.12:g.42054082C>T	TOPMed
rs144539581	p.Pro270Thr	missense variant	-	NC_000002.12:g.42054081C>A	ESP,ExAC,TOPMed,gnomAD
rs1202547957	p.Leu271Val	missense variant	-	NC_000002.12:g.42054084C>G	gnomAD
rs775137318	p.Leu271Gln	missense variant	-	NC_000002.12:g.42054085T>A	ExAC,gnomAD
rs765677586	p.Gly272Asp	missense variant	-	NC_000002.12:g.42054088G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser273Phe	missense variant	-	NC_000002.12:g.42054091C>T	NCI-TCGA
rs374316779	p.Val274Ile	missense variant	-	NC_000002.12:g.42054093G>A	ExAC,gnomAD
rs374316779	p.Val274Leu	missense variant	-	NC_000002.12:g.42054093G>C	ExAC,gnomAD
rs767225899	p.Val274Asp	missense variant	-	NC_000002.12:g.42054094T>A	ExAC,gnomAD
rs367778595	p.Leu276Val	missense variant	-	NC_000002.12:g.42054099C>G	ESP,ExAC,TOPMed,gnomAD
rs755912430	p.Phe279Leu	missense variant	-	NC_000002.12:g.42054110C>G	ExAC,gnomAD
rs779893968	p.Arg280Gly	missense variant	-	NC_000002.12:g.42054111C>G	ExAC,TOPMed,gnomAD
rs779893968	p.Arg280Cys	missense variant	-	NC_000002.12:g.42054111C>T	ExAC,TOPMed,gnomAD
rs1482020645	p.Arg280His	missense variant	-	NC_000002.12:g.42054112G>A	TOPMed
rs755188085	p.Arg282Pro	missense variant	-	NC_000002.12:g.42054118G>C	ExAC,TOPMed,gnomAD
rs755188085	p.Arg282Gln	missense variant	-	NC_000002.12:g.42054118G>A	ExAC,TOPMed,gnomAD
rs372244846	p.Arg282Trp	missense variant	-	NC_000002.12:g.42054117C>T	ESP,ExAC,TOPMed,gnomAD
rs755188085	p.Arg282Leu	missense variant	-	NC_000002.12:g.42054118G>T	ExAC,TOPMed,gnomAD
rs1276096464	p.Phe284Val	missense variant	-	NC_000002.12:g.42054123T>G	TOPMed,gnomAD
rs377686010	p.Val285Leu	missense variant	-	NC_000002.12:g.42054126G>T	ESP,ExAC,TOPMed,gnomAD
rs377686010	p.Val285Met	missense variant	-	NC_000002.12:g.42054126G>A	ESP,ExAC,TOPMed,gnomAD
rs1435923217	p.Asp288His	missense variant	-	NC_000002.12:g.42054135G>C	gnomAD
rs565845223	p.Asp288Gly	missense variant	-	NC_000002.12:g.42054136A>G	1000Genomes
rs747310773	p.Gly289Glu	missense variant	-	NC_000002.12:g.42054139G>A	ExAC,gnomAD
rs778155199	p.Gly289Arg	missense variant	-	NC_000002.12:g.42054138G>A	ExAC,gnomAD
rs777191700	p.Lys292Gln	missense variant	-	NC_000002.12:g.42054147A>C	ExAC,TOPMed,gnomAD
rs777191700	p.Lys292Glu	missense variant	-	NC_000002.12:g.42054147A>G	ExAC,TOPMed,gnomAD
rs1207203094	p.Thr294Met	missense variant	-	NC_000002.12:g.42054154C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu296Met	missense variant	-	NC_000002.12:g.42054159C>A	NCI-TCGA
rs770370744	p.Asp297Val	missense variant	-	NC_000002.12:g.42054163A>T	ExAC,gnomAD
rs773690824	p.Asp298Asn	missense variant	-	NC_000002.12:g.42054165G>A	ExAC,gnomAD
rs368270876	p.Ala299Thr	missense variant	-	NC_000002.12:g.42054168G>A	ESP,ExAC,TOPMed,gnomAD
rs1471482869	p.Ala299Val	missense variant	-	NC_000002.12:g.42054169C>T	gnomAD
rs766142478	p.Arg300Ser	missense variant	-	NC_000002.12:g.42054171C>A	ExAC,TOPMed,gnomAD
rs34372645	p.Arg300His	missense variant	-	NC_000002.12:g.42054172G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766142478	p.Arg300Cys	missense variant	-	NC_000002.12:g.42054171C>T	ExAC,TOPMed,gnomAD
rs34372645	p.Arg300Leu	missense variant	-	NC_000002.12:g.42054172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1186416663	p.Val301Met	missense variant	-	NC_000002.12:g.42054174G>A	TOPMed
rs1391113074	p.Glu302Gly	missense variant	-	NC_000002.12:g.42054178A>G	gnomAD
rs150069795	p.Thr304Met	missense variant	-	NC_000002.12:g.42054184C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150069795	p.Thr304Lys	missense variant	-	NC_000002.12:g.42054184C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369211885	p.Pro305Gln	missense variant	-	NC_000002.12:g.42054187C>A	ESP,ExAC,TOPMed,gnomAD
rs369211885	p.Pro305Leu	missense variant	-	NC_000002.12:g.42054187C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro305Ser	missense variant	-	NC_000002.12:g.42054186C>T	NCI-TCGA
rs1226952160	p.Cys306Phe	missense variant	-	NC_000002.12:g.42054190G>T	gnomAD
rs1226952160	p.Cys306Tyr	missense variant	-	NC_000002.12:g.42054190G>A	gnomAD
rs781660036	p.Ala307Ser	missense variant	-	NC_000002.12:g.42054192G>T	ExAC,TOPMed,gnomAD
rs781660036	p.Ala307Thr	missense variant	-	NC_000002.12:g.42054192G>A	ExAC,TOPMed,gnomAD
rs1263280447	p.Gly308Ala	missense variant	-	NC_000002.12:g.42054196G>C	gnomAD
rs746271281	p.Gly308Arg	missense variant	-	NC_000002.12:g.42054195G>C	ExAC,gnomAD
rs746271281	p.Gly308Ser	missense variant	-	NC_000002.12:g.42054195G>A	ExAC,gnomAD
rs61754921	p.Ser309Gly	missense variant	-	NC_000002.12:g.42054198A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr310Ile	missense variant	-	NC_000002.12:g.42054202C>T	NCI-TCGA
rs1209893976	p.Thr310Ala	missense variant	-	NC_000002.12:g.42054201A>G	gnomAD
rs374454176	p.Asp311Tyr	missense variant	-	NC_000002.12:g.42054204G>T	ESP,ExAC,TOPMed,gnomAD
rs769511686	p.Asp311Val	missense variant	-	NC_000002.12:g.42054205A>T	ExAC,TOPMed,gnomAD
rs374454176	p.Asp311Asn	missense variant	-	NC_000002.12:g.42054204G>A	ESP,ExAC,TOPMed,gnomAD
rs1423002282	p.Cys312Ser	missense variant	-	NC_000002.12:g.42054208G>C	gnomAD
rs772760412	p.Cys312Arg	missense variant	-	NC_000002.12:g.42054207T>C	ExAC,gnomAD
rs1366923903	p.Ile313Thr	missense variant	-	NC_000002.12:g.42054211T>C	gnomAD
rs376135288	p.Ile313Met	missense variant	-	NC_000002.12:g.42054212A>G	ESP,ExAC,TOPMed,gnomAD
rs543609482	p.Glu315Lys	missense variant	-	NC_000002.12:g.42054216G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs543609482	p.Glu315Gln	missense variant	-	NC_000002.12:g.42054216G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs759389470	p.Pro317Ala	missense variant	-	NC_000002.12:g.42054222C>G	ExAC,gnomAD
rs765017603	p.Pro317Leu	missense variant	-	NC_000002.12:g.42054223C>T	ExAC,TOPMed,gnomAD
rs1395801462	p.Ala318Val	missense variant	-	NC_000002.12:g.42054226C>T	gnomAD
rs377211356	p.Arg319Trp	missense variant	-	NC_000002.12:g.42054228A>T	ExAC,TOPMed,gnomAD
rs1244884606	p.Arg319Ser	missense variant	-	NC_000002.12:g.42054230G>T	gnomAD
rs377211356	p.Arg319Gly	missense variant	-	NC_000002.12:g.42054228A>G	ExAC,TOPMed,gnomAD
rs1044604302	p.Asn320Asp	missense variant	-	NC_000002.12:g.42054231A>G	TOPMed,gnomAD
rs1339999687	p.Phe321Leu	missense variant	-	NC_000002.12:g.42054236C>G	gnomAD
rs1240275871	p.Thr322Asn	missense variant	-	NC_000002.12:g.42054238C>A	TOPMed
rs56060398	p.Leu323Val	missense variant	-	NC_000002.12:g.42054240C>G	gnomAD
rs1482838398	p.Pro324Ala	missense variant	-	NC_000002.12:g.42054243C>G	gnomAD
rs867555443	p.Cys325Ter	stop gained	-	NC_000002.12:g.42054248C>A	gnomAD
rs1425744088	p.Gly329Asp	missense variant	-	NC_000002.12:g.42054259G>A	gnomAD
rs888710687	p.Gly329Arg	missense variant	-	NC_000002.12:g.42054258G>C	TOPMed,gnomAD
rs888710687	p.Gly329Ser	missense variant	-	NC_000002.12:g.42054258G>A	TOPMed,gnomAD
rs757512363	p.Cys331Arg	missense variant	-	NC_000002.12:g.42054264T>C	ExAC,TOPMed,gnomAD
rs201349790	p.Glu332Lys	missense variant	-	NC_000002.12:g.42054267G>A	ExAC,TOPMed,gnomAD
rs140379807	p.Met334Val	missense variant	-	NC_000002.12:g.42054273A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1355607890	p.Met334Thr	missense variant	-	NC_000002.12:g.42054274T>C	TOPMed,gnomAD
rs1355607890	p.Met334Lys	missense variant	-	NC_000002.12:g.42054274T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu336Asp	missense variant	-	NC_000002.12:g.42054281G>C	NCI-TCGA
rs780344962	p.Glu336Lys	missense variant	-	NC_000002.12:g.42054279G>A	ExAC,gnomAD
rs1452848671	p.Lys337Arg	missense variant	-	NC_000002.12:g.42054283A>G	gnomAD
rs769194112	p.Arg338Gln	missense variant	-	NC_000002.12:g.42054286G>A	ExAC,gnomAD
rs749783255	p.Arg338Trp	missense variant	-	NC_000002.12:g.42054285C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu340Ile	missense variant	-	NC_000002.12:g.42054291C>A	NCI-TCGA
rs1229958949	p.Tyr341His	missense variant	-	NC_000002.12:g.42054294T>C	TOPMed,gnomAD
rs772670606	p.Asn342Asp	missense variant	-	NC_000002.12:g.42054297A>G	ExAC,gnomAD
rs1207795952	p.Ala343Ser	missense variant	-	NC_000002.12:g.42054300G>T	gnomAD
rs1483443279	p.Tyr344Cys	missense variant	-	NC_000002.12:g.42054304A>G	TOPMed,gnomAD
rs759177133	p.Arg345Lys	missense variant	-	NC_000002.12:g.42054307G>A	ExAC,gnomAD
rs1161791222	p.Phe346Leu	missense variant	-	NC_000002.12:g.42054942T>C	TOPMed
rs138740911	p.Phe348Leu	missense variant	-	NC_000002.12:g.42054948T>C	ESP,ExAC,TOPMed,gnomAD
rs769370620	p.Thr349Ala	missense variant	-	NC_000002.12:g.42054951A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu351Phe	missense variant	-	NC_000002.12:g.42054957C>T	NCI-TCGA
rs1348837188	p.Leu352Val	missense variant	-	NC_000002.12:g.42054960C>G	TOPMed,gnomAD
rs764062024	p.Ala356Val	missense variant	-	NC_000002.12:g.42054973C>T	ExAC,gnomAD
rs774430424	p.Pro357Leu	missense variant	-	NC_000002.12:g.42054976C>T	ExAC,TOPMed,gnomAD
rs750512358	p.Arg361His	missense variant	-	NC_000002.12:g.42054988G>A	ExAC,gnomAD
rs767616137	p.Arg361Cys	missense variant	-	NC_000002.12:g.42054987C>T	ExAC,gnomAD
rs1182499708	p.Pro362Ala	missense variant	-	NC_000002.12:g.42054990C>G	TOPMed
rs559149258	p.Leu364Val	missense variant	-	NC_000002.12:g.42054996C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp365Gly	missense variant	-	NC_000002.12:g.42055000A>G	NCI-TCGA
rs201954685	p.Ser366Cys	missense variant	-	NC_000002.12:g.42055002A>T	1000Genomes
rs766534302	p.Val368Ile	missense variant	-	NC_000002.12:g.42055008G>A	ExAC,TOPMed,gnomAD
rs147347408	p.Asn369Ser	missense variant	-	NC_000002.12:g.42055012A>G	ESP,ExAC,TOPMed,gnomAD
rs937072379	p.Ala370Thr	missense variant	-	NC_000002.12:g.42055014G>A	TOPMed
rs1490644983	p.Ala370Val	missense variant	-	NC_000002.12:g.42055015C>T	gnomAD
COSM4094255	p.Gly372Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.42055020G>T	NCI-TCGA Cosmic
rs1237198924	p.Gly372Arg	missense variant	-	NC_000002.12:g.42055020G>A	TOPMed
rs1227751326	p.Glu373Gln	missense variant	-	NC_000002.12:g.42055288G>C	gnomAD
rs1341998377	p.Leu374Phe	missense variant	-	NC_000002.12:g.42055291C>T	gnomAD
rs755580371	p.Ala375Thr	missense variant	-	NC_000002.12:g.42055294G>A	ExAC,TOPMed,gnomAD
rs748929908	p.Ala375Asp	missense variant	-	NC_000002.12:g.42055295C>A	ExAC,gnomAD
rs755580371	p.Ala375Ser	missense variant	-	NC_000002.12:g.42055294G>T	ExAC,TOPMed,gnomAD
rs369267445	p.Trp376Leu	missense variant	-	NC_000002.12:g.42055298G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747921012	p.Trp376Cys	missense variant	-	NC_000002.12:g.42055299G>C	ExAC,TOPMed,gnomAD
rs369267445	p.Trp376Ter	stop gained	-	NC_000002.12:g.42055298G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369267445	p.Trp376Ser	missense variant	-	NC_000002.12:g.42055298G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139834357	p.Gly377Arg	missense variant	-	NC_000002.12:g.42055300G>C	ESP,ExAC,TOPMed,gnomAD
rs139834357	p.Gly377Trp	missense variant	-	NC_000002.12:g.42055300G>T	ESP,ExAC,TOPMed,gnomAD
rs139834357	p.Gly377Arg	missense variant	-	NC_000002.12:g.42055300G>A	ESP,ExAC,TOPMed,gnomAD
rs770985308	p.Gly377Ala	missense variant	-	NC_000002.12:g.42055301G>C	ExAC,gnomAD
COSM1291505	p.Val378TrpPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.42055298G>-	NCI-TCGA Cosmic
rs1374754168	p.Val378Met	missense variant	-	NC_000002.12:g.42055303G>A	gnomAD
rs1475673239	p.Val378Ala	missense variant	-	NC_000002.12:g.42055304T>C	gnomAD
COSM1306797	p.Glu380Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42055309G>C	NCI-TCGA Cosmic
rs776740396	p.Glu380Lys	missense variant	-	NC_000002.12:g.42055309G>A	ExAC,TOPMed,gnomAD
rs765473313	p.Thr381Ser	missense variant	-	NC_000002.12:g.42055312A>T	ExAC,gnomAD
rs775782223	p.Leu382Val	missense variant	-	NC_000002.12:g.42055315C>G	ExAC,gnomAD
rs903395363	p.Glu386Lys	missense variant	-	NC_000002.12:g.42055327G>A	TOPMed
rs764592115	p.Val388Leu	missense variant	-	NC_000002.12:g.42055333G>T	ExAC,TOPMed,gnomAD
rs764592115	p.Val388Met	missense variant	-	NC_000002.12:g.42055333G>A	ExAC,TOPMed,gnomAD
rs752001053	p.His390Arg	missense variant	-	NC_000002.12:g.42055340A>G	ExAC,TOPMed,gnomAD
rs374556546	p.Arg393Gln	missense variant	-	NC_000002.12:g.42055349G>A	ExAC,TOPMed,gnomAD
rs889378901	p.Arg393Trp	missense variant	-	NC_000002.12:g.42055348C>T	TOPMed,gnomAD
rs753432784	p.Gly395Arg	missense variant	-	NC_000002.12:g.42055354G>C	ExAC,TOPMed,gnomAD
rs753432784	p.Gly395Arg	missense variant	-	NC_000002.12:g.42055354G>A	ExAC,TOPMed,gnomAD
rs1447048619	p.Gln396Ter	stop gained	-	NC_000002.12:g.42055357C>T	gnomAD
rs747912047	p.Gln396Arg	missense variant	-	NC_000002.12:g.42055358A>G	ExAC,TOPMed,gnomAD
rs199534537	p.Thr402Lys	missense variant	-	NC_000002.12:g.42055376C>A	ESP,ExAC,TOPMed,gnomAD
rs199534537	p.Thr402Met	missense variant	-	NC_000002.12:g.42055376C>T	ESP,ExAC,TOPMed,gnomAD
rs1375849298	p.Thr402Ala	missense variant	-	NC_000002.12:g.42055375A>G	gnomAD
rs770895165	p.Ala403Thr	missense variant	-	NC_000002.12:g.42055378G>A	ExAC,TOPMed,gnomAD
rs776650479	p.Ser405Arg	missense variant	-	NC_000002.12:g.42055384A>C	ExAC,TOPMed,gnomAD
rs776650479	p.Ser405Gly	missense variant	-	NC_000002.12:g.42055384A>G	ExAC,TOPMed,gnomAD
rs1410366761	p.Ser406Asn	missense variant	-	NC_000002.12:g.42055388G>A	TOPMed
rs1005828441	p.Thr407Ser	missense variant	-	NC_000002.12:g.42055391C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Thr407Ser	missense variant	-	NC_000002.12:g.42055390A>T	NCI-TCGA
rs1005828441	p.Thr407Ile	missense variant	-	NC_000002.12:g.42055391C>T	TOPMed,gnomAD
rs200003897	p.Glu408Lys	missense variant	-	NC_000002.12:g.42055393G>A	ESP,ExAC,TOPMed,gnomAD
rs762284448	p.Glu408Gly	missense variant	-	NC_000002.12:g.42057221A>G	ExAC,TOPMed,gnomAD
rs200003897	p.Glu408Gln	missense variant	-	NC_000002.12:g.42055393G>C	ESP,ExAC,TOPMed,gnomAD
rs772640989	p.Ile412Val	missense variant	-	NC_000002.12:g.42057232A>G	ExAC,gnomAD
rs1178664232	p.Asp414Glu	missense variant	-	NC_000002.12:g.42057240C>A	TOPMed,gnomAD
rs773853665	p.Asp414Asn	missense variant	-	NC_000002.12:g.42057238G>A	ExAC,TOPMed,gnomAD
rs773853665	p.Asp414His	missense variant	-	NC_000002.12:g.42057238G>C	ExAC,TOPMed,gnomAD
rs761323413	p.Ser415Gly	missense variant	-	NC_000002.12:g.42057241A>G	ExAC,TOPMed,gnomAD
COSM721859	p.Ser415Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42057242G>T	NCI-TCGA Cosmic
rs764631344	p.Ile417Asn	missense variant	-	NC_000002.12:g.42057248T>A	ExAC,TOPMed,gnomAD
rs868370814	p.Pro418Thr	missense variant	-	NC_000002.12:g.42057250C>A	TOPMed
rs868370814	p.Pro418Ser	missense variant	-	NC_000002.12:g.42057250C>T	TOPMed
rs1383512358	p.Gln419Ter	stop gained	-	NC_000002.12:g.42057253C>T	gnomAD
rs752291440	p.Glu420Lys	missense variant	-	NC_000002.12:g.42057256G>A	ExAC,gnomAD
rs1164843780	p.Asp421Asn	missense variant	-	NC_000002.12:g.42057259G>A	gnomAD
rs1331966606	p.Tyr422Cys	missense variant	-	NC_000002.12:g.42057263A>G	TOPMed
rs1370426689	p.Arg423Cys	missense variant	-	NC_000002.12:g.42057265C>T	TOPMed,gnomAD
rs1370426689	p.Arg423Gly	missense variant	-	NC_000002.12:g.42057265C>G	TOPMed,gnomAD
rs375161244	p.Arg423His	missense variant	-	NC_000002.12:g.42057266G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys424Ser	missense variant	-	NC_000002.12:g.42057268T>A	NCI-TCGA
rs192502736	p.Trp425Gly	missense variant	-	NC_000002.12:g.42057271T>G	1000Genomes,ExAC,gnomAD
rs144324838	p.Ser427Tyr	missense variant	-	NC_000002.12:g.42057278C>A	ESP,ExAC,gnomAD
rs1416373374	p.His429Gln	missense variant	-	NC_000002.12:g.42057285C>A	TOPMed
rs756089656	p.Gly431Arg	missense variant	-	NC_000002.12:g.42057289G>A	ExAC,TOPMed,gnomAD
rs779960943	p.Val437Leu	missense variant	-	NC_000002.12:g.42057307G>C	ExAC,TOPMed,gnomAD
rs768706322	p.Asn439Ser	missense variant	-	NC_000002.12:g.42057314A>G	ExAC,gnomAD
rs779204285	p.Ala443Gly	missense variant	-	NC_000002.12:g.42057326C>G	ExAC,gnomAD
rs571134014	p.Asp445Val	missense variant	-	NC_000002.12:g.42057332A>T	1000Genomes,ExAC,gnomAD
rs571134014	p.Asp445Ala	missense variant	-	NC_000002.12:g.42057332A>C	1000Genomes,ExAC,gnomAD
rs761233758	p.Glu448Gly	missense variant	-	NC_000002.12:g.42057341A>G	ExAC,gnomAD
rs1184211949	p.Ser449Asn	missense variant	-	NC_000002.12:g.42057344G>A	gnomAD
rs771499303	p.Ser449Arg	missense variant	-	NC_000002.12:g.42057345C>A	ExAC
rs540044470	p.Ala451Val	missense variant	-	NC_000002.12:g.42057350C>T	1000Genomes,ExAC,gnomAD
rs1427203094	p.Gln452Arg	missense variant	-	NC_000002.12:g.42057353A>G	gnomAD
rs751205624	p.Arg454Gln	missense variant	-	NC_000002.12:g.42057359G>A	ExAC,TOPMed,gnomAD
rs763585890	p.Arg454Trp	missense variant	-	NC_000002.12:g.42057358C>T	ExAC,gnomAD
rs1407773140	p.Val458Phe	missense variant	-	NC_000002.12:g.42057370G>T	TOPMed,gnomAD
rs1236705503	p.Asn460Ser	missense variant	-	NC_000002.12:g.42057377A>G	TOPMed
rs1452735733	p.Gln461His	missense variant	-	NC_000002.12:g.42057381G>C	TOPMed,gnomAD
rs1048777399	p.Thr462Ser	missense variant	-	NC_000002.12:g.42057382A>T	TOPMed
rs767275653	p.Thr462Ile	missense variant	-	NC_000002.12:g.42057383C>T	ExAC,gnomAD
rs1004668977	p.Trp464Arg	missense variant	-	NC_000002.12:g.42057388T>C	TOPMed
rs750255771	p.Trp464Ter	stop gained	-	NC_000002.12:g.42057389G>A	ExAC,TOPMed
rs145926479	p.Gly466Val	missense variant	-	NC_000002.12:g.42057603G>T	ESP,TOPMed,gnomAD
rs1216297965	p.Gly466Ser	missense variant	-	NC_000002.12:g.42057394G>A	gnomAD
rs145926479	p.Gly466Asp	missense variant	-	NC_000002.12:g.42057603G>A	ESP,TOPMed,gnomAD
rs372281747	p.Arg467Leu	missense variant	-	NC_000002.12:g.42057606G>T	ESP,ExAC,TOPMed,gnomAD
rs1480965660	p.Arg467Trp	missense variant	-	NC_000002.12:g.42057605C>T	TOPMed,gnomAD
rs372281747	p.Arg467Gln	missense variant	-	NC_000002.12:g.42057606G>A	ESP,ExAC,TOPMed,gnomAD
rs1405269424	p.Leu469Pro	missense variant	-	NC_000002.12:g.42057612T>C	gnomAD
rs766157623	p.Val470Phe	missense variant	-	NC_000002.12:g.42057614G>T	ExAC,gnomAD
rs754920372	p.Phe472Ser	missense variant	-	NC_000002.12:g.42057621T>C	ExAC,gnomAD
rs1345991539	p.Phe472Leu	missense variant	-	NC_000002.12:g.42057622C>A	gnomAD
rs765378447	p.Gly475Arg	missense variant	-	NC_000002.12:g.42057629G>A	ExAC,TOPMed,gnomAD
rs778153180	p.Trp476Arg	missense variant	-	NC_000002.12:g.42057632T>A	ExAC,gnomAD
rs778153180	p.Trp476Arg	missense variant	-	NC_000002.12:g.42057632T>C	ExAC,gnomAD
rs1284989252	p.Ser477Ile	missense variant	-	NC_000002.12:g.42057636G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val480Phe	missense variant	-	NC_000002.12:g.42057644G>T	NCI-TCGA
rs1220955299	p.Val480Ala	missense variant	-	NC_000002.12:g.42057645T>C	gnomAD
rs974615556	p.Pro481Leu	missense variant	-	NC_000002.12:g.42057648C>T	TOPMed
rs781464156	p.Asp482Tyr	missense variant	-	NC_000002.12:g.42057650G>T	ExAC,gnomAD
rs746359140	p.Pro483Thr	missense variant	-	NC_000002.12:g.42057653C>A	ExAC,gnomAD
rs921819463	p.Asn484Lys	missense variant	-	NC_000002.12:g.42057658C>G	TOPMed
rs770241534	p.Asn484Ile	missense variant	-	NC_000002.12:g.42057657A>T	ExAC
COSM4094257	p.Lys485Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42057660A>G	NCI-TCGA Cosmic
rs1295398677	p.Lys485Asn	missense variant	-	NC_000002.12:g.42057661G>C	TOPMed
rs371821658	p.Lys485Glu	missense variant	-	NC_000002.12:g.42057659A>G	ESP,ExAC,gnomAD
rs1230850927	p.Thr486Ile	missense variant	-	NC_000002.12:g.42057663C>T	gnomAD
rs1177401027	p.Thr487Ala	missense variant	-	NC_000002.12:g.42057665A>G	gnomAD
rs747673825	p.Val489Met	missense variant	-	NC_000002.12:g.42057671G>A	ExAC,gnomAD
rs747673825	p.Val489Leu	missense variant	-	NC_000002.12:g.42057671G>C	ExAC,gnomAD
rs1437775776	p.Ala491Ser	missense variant	-	NC_000002.12:g.42057677G>T	TOPMed
rs772850359	p.Ser492Phe	missense variant	-	NC_000002.12:g.42057681C>T	ExAC,TOPMed,gnomAD
rs1165462919	p.Gly493Ser	missense variant	-	NC_000002.12:g.42057683G>A	gnomAD
rs1321917013	p.Gly493Asp	missense variant	-	NC_000002.12:g.42057684G>A	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005938	Bone Density	phenotype	GWASCAT
C0950123	Genetic Diseases, Inborn	group	CLINVAR

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004672	protein kinase activity	ISS
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA
GO:0005524	ATP binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	IEA
GO:0015031	protein transport	IEA
GO:0018108	peptidyl-tyrosine phosphorylation	IDA
GO:0030154	cell differentiation	IEA
GO:0030282	bone mineralization	IEA
GO:0030501	positive regulation of bone mineralization	ISS
GO:0032332	positive regulation of chondrocyte differentiation	ISS
GO:0035108	limb morphogenesis	IEA
GO:0035264	multicellular organism growth	IEA
GO:0042997	negative regulation of Golgi to plasma membrane protein transport	ISS
GO:0048286	lung alveolus development	ISS
GO:0048566	embryonic digestive tract development	ISS
GO:0060021	roof of mouth development	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	IDA
GO:0005794	Golgi apparatus	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

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] results in increased expression of PKDCC mRNA	28628672
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat 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 PKDCC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 PKDCC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride 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 PKDCC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PKDCC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PKDCC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A 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 PKDCC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PKDCC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PKDCC mRNA	27188386
C029370	4-toluidine	4-toluidine results in decreased expression of PKDCC mRNA	27638505
C496492	abrine	abrine results in decreased expression of PKDCC mRNA	31054353
D000079	Acetaldehyde	Acetaldehyde results in decreased expression of PKDCC mRNA	23416264
D020106	Acrylamide	Acrylamide affects the expression of PKDCC mRNA	28959563
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PKDCC mRNA	24449571
C547126	AZM551248	AZM551248 results in increased expression of PKDCC mRNA	22323515
C487081	belinostat	belinostat results in increased expression of PKDCC mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat 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 PKDCC mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PKDCC mRNA	19770486; 25908611;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PKDCC mRNA	21839799
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of PKDCC intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PKDCC mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of PKDCC mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of PKDCC mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of PKDCC mRNA	25181051; 30816183;
C000611646	bisphenol F	bisphenol F results in increased expression of PKDCC mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of PKDCC mRNA	26079696
D002104	Cadmium	Cadmium results in decreased expression of PKDCC mRNA	24376830
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PKDCC mRNA	27339419
D002945	Cisplatin	Cisplatin affects the expression of PKDCC mRNA	23300844
D002994	Clofibrate	Clofibrate results in decreased expression of PKDCC mRNA	17585979
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PKDCC mRNA	24386269
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of PKDCC mRNA	20971185
D016572	Cyclosporine	Cyclosporine results in decreased expression of PKDCC mRNA	25562108
D000077209	Decitabine	Decitabine affects the expression of PKDCC mRNA	23300844
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of PKDCC mRNA	28628672
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PKDCC mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in decreased expression of PKDCC mRNA	30120929
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of PKDCC mRNA	19371625
C516138	dorsomorphin	[NOG protein co-treated with belinostat 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 PKDCC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 PKDCC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride 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 PKDCC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PKDCC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PKDCC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A 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 PKDCC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PKDCC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PKDCC mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PKDCC mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of PKDCC mRNA	29391264
C118739	entinostat	entinostat results in increased expression of PKDCC mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 PKDCC mRNA	27188386
C069837	fullerene C60	fullerene C60 results in increased expression of PKDCC mRNA	19167457
C039281	furan	furan results in increased expression of PKDCC mRNA	26194646
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of PKDCC mRNA	28628672
D000077146	Irinotecan	Irinotecan results in decreased expression of PKDCC mRNA	20185912
D048628	Ketolides	Ketolides analog results in increased expression of PKDCC mRNA	24967691
D000077339	Leflunomide	Leflunomide results in increased expression of PKDCC mRNA	24136188
D008694	Methamphetamine	Methamphetamine results in increased expression of PKDCC mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in decreased methylation of PKDCC intron	30157460
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of PKDCC mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride 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 PKDCC mRNA	27188386
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of PKDCC mRNA	29244179
C051752	nefazodone	nefazodone results in decreased expression of PKDCC mRNA	24136188
C012655	nimesulide	nimesulide results in decreased expression of PKDCC mRNA	24136188
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of PKDCC mRNA	20971185
D010100	Oxygen	Oxygen deficiency results in decreased expression of PKDCC mRNA	24236059
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PKDCC mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of PKDCC mRNA	26272509
D010634	Phenobarbital	Phenobarbital affects the expression of PKDCC mRNA	23091169
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PKDCC mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of PKDCC mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in decreased expression of PKDCC mRNA	23811191
D010936	Plant Extracts	Plant Extracts results in decreased expression of PKDCC mRNA	23557933
D010938	Plant Oils	Plant Oils results in decreased expression of PKDCC mRNA	23370395
C045950	propiconazole	propiconazole results in decreased expression of PKDCC mRNA	21278054
D011794	Quercetin	Quercetin results in decreased expression of PKDCC mRNA	21632981
D012402	Rotenone	Rotenone results in decreased expression of PKDCC mRNA	28374803
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of PKDCC mRNA	25895662
D013739	Testosterone	Testosterone results in increased expression of PKDCC mRNA	20403060; 21669218;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PKDCC mRNA	21632981
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PKDCC mRNA	19770486
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PKDCC mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PKDCC mRNA	21215274
D013750	Tetrachloroethylene	Tetrachloroethylene results in decreased expression of PKDCC mRNA	28973375
D014212	Tretinoin	Tretinoin results in decreased expression of PKDCC mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A 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 PKDCC mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of PKDCC mRNA	26272509
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of PKDCC mRNA	26179874
C406224	valdecoxib	valdecoxib results in decreased expression of PKDCC mRNA	24136188
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 PKDCC mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of PKDCC mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of PKDCC mRNA	23179753; 26272509;
D014635	Valproic Acid	Valproic Acid affects the expression of PKDCC mRNA	17963808
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of PKDCC gene	25560391
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PKDCC mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of PKDCC mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0067	ATP-binding
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0325	Glycoprotein
KW-0333	Golgi apparatus
KW-0418	Kinase
KW-0547	Nucleotide-binding
KW-0892	Osteogenesis
KW-0597	Phosphoprotein
KW-0653	Protein transport
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0808	Transferase
KW-0813	Transport
KW-0829	Tyrosine-protein kinase

Interpro

InterPro ID	InterPro Term
IPR022049	FAM69_kinase_dom
IPR011009	Kinase-like_dom_sf
IPR042983	PKDCC
IPR000719	Prot_kinase_dom

PROSITE

PROSITE ID	PROSITE Term
PS50011	PROTEIN_KINASE_DOM

Pfam

Pfam ID	Pfam Term
PF12260	PIP49_C

Gene: PKDCC

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

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