CleftGeneDB-Search

Gene: CDK20

Basic information

Tag	Content
Uniprot ID	Q8IZL9; A2A389; A2A390; B4DQX1; O95137; Q5EDC4; Q5VYW1; Q9BUF4;
Entrez ID	23552
Genbank protein ID	BAG52110.1; EAW62748.1; BAG61083.1; AAH02655.1; AAW82349.1; EAW62746.1; AAF43778.1; AAC98920.1; AAN28684.1;
Genbank nucleotide ID	NM_178432.3; NM_001170640.1; NM_001039803.2; NM_001170639.1; NM_012119.4;
Ensembl protein ID	ENSP00000322343; ENSP00000365043; ENSP00000474485; ENSP00000365031; ENSP00000338975;
Ensembl nucleotide ID	ENSG00000156345
Gene name	Cyclin-dependent kinase 20
Gene symbol	CDK20
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling (By similarity). Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue 'Thr-160'.
Sequence	MDQYCILGRI GEGAHGIVFK AKHVETGEIV ALKKVALRRL EDGFPNQALR EIKALQEMED 60 NQYVVQLKAV FPHGGGFVLA FEFMLSDLAE VVRHAQRPLA QAQVKSYLQM LLKGVAFCHA 120 NNIVHRDLKP ANLLISASGQ LKIADFGLAR VFSPDGSRLY THQVATRWYR APELLYGARQ 180 YDQGVDLWSV GCIMGELLNG SPLFPGKNDI EQLCYVLRIL GTPNPQVWPE LTELPDYNKI 240 SFKEQVPMPL EEVLPDVSPQ ALDLLGQFLL YPPHQRIAAS KALLHQYFFT APLPAHPSEL 300 PIPQRLGGPA PKAHPGPPHI HDFHVDRPLE ESLLNPELIR PFILEG 346

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	CDK20	510920	A6H7E6		Bos taurus	Prediction	More>>
1:1 ortholog	CDK20	476355	F1PPV7		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	CDK20	102173001	A0A452EEB7		Capra hircus	Prediction	More>>
1:1 ortholog	CDK20	23552	Q8IZL9		Homo sapiens	Prediction	More>>
1:1 ortholog	Cdk20	105278	Q9JHU3	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CDK20		K7CGC1		Pan troglodytes	Prediction	More>>
1:1 ortholog	CDK20		A0A5G2RB04		Sus scrofa	Prediction	More>>
1:1 ortholog	CDK20		G1STR2		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Cdk20	364666	Q4KM34		Rattus norvegicus	Prediction	More>>
1:1 ortholog	cdk20	494112	A8WIP6		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs766135077	p.Asp2Ala	missense variant	-	NC_000009.12:g.87974442T>G	ExAC,gnomAD
rs758198659	p.Gln3Ter	stop gained	-	NC_000009.12:g.87974440G>A	ExAC,gnomAD
rs758198659	p.Gln3Glu	missense variant	-	NC_000009.12:g.87974440G>C	ExAC,gnomAD
rs1484187581	p.Gln3Arg	missense variant	-	NC_000009.12:g.87974439T>C	TOPMed,gnomAD
rs750394238	p.Gln3His	missense variant	-	NC_000009.12:g.87974438C>G	ExAC,TOPMed,gnomAD
rs1487041199	p.TyrCys4TyrTerLeuUnk	stop gained	-	NC_000009.12:g.87974433_87974436dup	gnomAD
rs202214490	p.Tyr4Ter	stop gained	-	NC_000009.12:g.87974435G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775986857	p.Ile6Thr	missense variant	-	NC_000009.12:g.87974430A>G	ExAC,gnomAD
rs767541571	p.Gly8Ser	missense variant	-	NC_000009.12:g.87974425C>T	ExAC,gnomAD
rs759791237	p.Gly8Asp	missense variant	-	NC_000009.12:g.87974424C>T	ExAC,gnomAD
rs377279902	p.Arg9His	missense variant	-	NC_000009.12:g.87974421C>T	ESP,ExAC,TOPMed,gnomAD
rs1356584509	p.Ile10Ser	missense variant	-	NC_000009.12:g.87974418A>C	TOPMed,gnomAD
rs1398171654	p.Glu12Ter	stop gained	-	NC_000009.12:g.87974413C>A	gnomAD
rs1362514521	p.Gly13Ser	missense variant	-	NC_000009.12:g.87974410C>T	gnomAD
rs374349865	p.Ala14Thr	missense variant	-	NC_000009.12:g.87974407C>T	TOPMed
rs138136908	p.His15Gln	missense variant	-	NC_000009.12:g.87974402G>T	ESP,ExAC,gnomAD
rs1273700494	p.Gly16Ser	missense variant	-	NC_000009.12:g.87974401C>T	TOPMed
rs770438673	p.Ile17Met	missense variant	-	NC_000009.12:g.87974396G>C	ExAC,gnomAD
rs1201831713	p.Val18Ile	missense variant	-	NC_000009.12:g.87974395C>T	TOPMed
rs1201831713	p.Val18Leu	missense variant	-	NC_000009.12:g.87974395C>G	TOPMed
NCI-TCGA novel	p.Val18Phe	missense variant	-	NC_000009.12:g.87974395C>A	NCI-TCGA
rs1162362522	p.Phe19Val	missense variant	-	NC_000009.12:g.87974392A>C	gnomAD
rs576385275	p.Lys20Gln	missense variant	-	NC_000009.12:g.87974389T>G	1000Genomes,ExAC,gnomAD
rs1222205239	p.Ala21Asp	missense variant	-	NC_000009.12:g.87974385G>T	gnomAD
rs1476829866	p.Lys22Glu	missense variant	-	NC_000009.12:g.87974383T>C	gnomAD
rs754508521	p.His23Gln	missense variant	-	NC_000009.12:g.87974378G>T	ExAC,gnomAD
NCI-TCGA novel	p.His23Tyr	missense variant	-	NC_000009.12:g.87974380G>A	NCI-TCGA
rs377600589	p.Glu25Gly	missense variant	-	NC_000009.12:g.87974373T>C	ESP,ExAC,TOPMed,gnomAD
rs377600589	p.Glu25Ala	missense variant	-	NC_000009.12:g.87974373T>G	ESP,ExAC,TOPMed,gnomAD
rs1434803675	p.Thr26Ile	missense variant	-	NC_000009.12:g.87974034G>A	gnomAD
rs1314117680	p.Thr26Ala	missense variant	-	NC_000009.12:g.87974035T>C	gnomAD
NCI-TCGA novel	p.Glu28Lys	missense variant	-	NC_000009.12:g.87974029C>T	NCI-TCGA
rs761038829	p.Ile29Leu	missense variant	-	NC_000009.12:g.87974026T>G	ExAC,TOPMed,gnomAD
rs761038829	p.Ile29Val	missense variant	-	NC_000009.12:g.87974026T>C	ExAC,TOPMed,gnomAD
rs1470987489	p.Ile29Met	missense variant	-	NC_000009.12:g.87974024T>C	gnomAD
rs1222822557	p.Val30Gly	missense variant	-	NC_000009.12:g.87974022A>C	TOPMed,gnomAD
rs1222822557	p.Val30Ala	missense variant	-	NC_000009.12:g.87974022A>G	TOPMed,gnomAD
rs956046565	p.Ala31Val	missense variant	-	NC_000009.12:g.87974019G>A	gnomAD
rs147786114	p.Lys34Glu	missense variant	-	NC_000009.12:g.87974011T>C	ESP,ExAC,TOPMed,gnomAD
rs150114135	p.Lys34Met	missense variant	-	NC_000009.12:g.87974010T>A	ESP,ExAC,TOPMed,gnomAD
rs745580338	p.Val35Ala	missense variant	-	NC_000009.12:g.87974007A>G	ExAC,TOPMed,gnomAD
rs921913469	p.Leu37Val	missense variant	-	NC_000009.12:g.87974002G>C	TOPMed,gnomAD
rs200054133	p.Arg39Gln	missense variant	-	NC_000009.12:g.87973995C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1242540614	p.Arg39Trp	missense variant	-	NC_000009.12:g.87973996G>A	gnomAD
rs200054133	p.Arg39Pro	missense variant	-	NC_000009.12:g.87973995C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs367666714	p.Leu40Phe	missense variant	-	NC_000009.12:g.87973991C>G	ESP,ExAC,TOPMed,gnomAD
rs1414815831	p.Asp42His	missense variant	-	NC_000009.12:g.87973987C>G	gnomAD
rs750721533	p.Asp42Ala	missense variant	-	NC_000009.12:g.87973986T>G	ExAC,gnomAD
rs762065664	p.Gly43Arg	missense variant	-	NC_000009.12:g.87973984C>G	ExAC,gnomAD
rs762065664	p.Gly43Ser	missense variant	-	NC_000009.12:g.87973984C>T	ExAC,gnomAD
rs1292559621	p.Pro45His	missense variant	-	NC_000009.12:g.87973977G>T	TOPMed
rs1168708376	p.Pro45Ser	missense variant	-	NC_000009.12:g.87973978G>A	gnomAD
rs531677791	p.Asn46Asp	missense variant	-	NC_000009.12:g.87973975T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs531677791	p.Asn46His	missense variant	-	NC_000009.12:g.87973975T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs531677791	p.Asn46Tyr	missense variant	-	NC_000009.12:g.87973975T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767111178	p.Gln47Glu	missense variant	-	NC_000009.12:g.87973972G>C	ExAC
rs758966390	p.Ala48Thr	missense variant	-	NC_000009.12:g.87973969C>T	ExAC,gnomAD
rs1420584337	p.Ala48Val	missense variant	-	NC_000009.12:g.87973968G>A	gnomAD
rs150927336	p.Glu51Asp	missense variant	-	NC_000009.12:g.87973958C>G	ESP,TOPMed,gnomAD
rs770584509	p.Glu51Gly	missense variant	-	NC_000009.12:g.87973959T>C	ExAC,gnomAD
rs748890170	p.Lys53Glu	missense variant	-	NC_000009.12:g.87973954T>C	ExAC,gnomAD
rs773026901	p.Ala54Thr	missense variant	-	NC_000009.12:g.87973951C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala54Ser	missense variant	-	NC_000009.12:g.87973951C>A	NCI-TCGA
rs769448515	p.Leu55Val	missense variant	-	NC_000009.12:g.87973948G>C	ExAC,TOPMed,gnomAD
rs1354021079	p.Leu55Pro	missense variant	-	NC_000009.12:g.87973947A>G	TOPMed,gnomAD
rs1354021079	p.Leu55Arg	missense variant	-	NC_000009.12:g.87973947A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln56Ter	stop gained	-	NC_000009.12:g.87973945G>A	NCI-TCGA
NCI-TCGA novel	p.Glu57Ter	stop gained	-	NC_000009.12:g.87973942C>A	NCI-TCGA
rs748169751	p.Glu57Gln	missense variant	-	NC_000009.12:g.87973942C>G	ExAC,gnomAD
rs754874964	p.Met58Thr	missense variant	-	NC_000009.12:g.87973938A>G	ExAC,TOPMed,gnomAD
rs375016648	p.Met58Ile	missense variant	-	NC_000009.12:g.87973937C>T	ESP,ExAC,gnomAD
rs562782648	p.Asp60Asn	missense variant	-	NC_000009.12:g.87973933C>T	1000Genomes,gnomAD
rs757580504	p.Asn61His	missense variant	-	NC_000009.12:g.87973930T>G	ExAC
rs1397098744	p.Gln62Pro	missense variant	-	NC_000009.12:g.87973926T>G	gnomAD
rs754081326	p.Gln62Lys	missense variant	-	NC_000009.12:g.87973927G>T	ExAC,gnomAD
rs747457856	p.Tyr63Ter	stop gained	-	NC_000009.12:g.87973923dup	ExAC,TOPMed
rs769932384	p.Val64Leu	missense variant	-	NC_000009.12:g.87971335C>G	ExAC,TOPMed,gnomAD
rs973836002	p.Val64Ala	missense variant	-	NC_000009.12:g.87971334A>G	gnomAD
rs769932384	p.Val64Met	missense variant	-	NC_000009.12:g.87971335C>T	ExAC,TOPMed,gnomAD
rs781454036	p.Val65Ala	missense variant	-	NC_000009.12:g.87971331A>G	ExAC,TOPMed,gnomAD
rs748362044	p.Val65Ile	missense variant	-	NC_000009.12:g.87971332C>T	ExAC,gnomAD
rs1486384814	p.Gln66Ter	stop gained	-	NC_000009.12:g.87971329G>A	gnomAD
rs755317703	p.Ala69Thr	missense variant	-	NC_000009.12:g.87971320C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala69Val	missense variant	-	NC_000009.12:g.87971319G>A	NCI-TCGA
rs1314822169	p.Ala69Gly	missense variant	-	NC_000009.12:g.87971319G>C	gnomAD
rs752120731	p.Val70Leu	missense variant	-	NC_000009.12:g.87971317C>G	ExAC,gnomAD
rs758842628	p.Phe71Leu	missense variant	-	NC_000009.12:g.87971312G>C	ExAC,gnomAD
rs1416947232	p.Pro72Leu	missense variant	-	NC_000009.12:g.87971310G>A	TOPMed
rs9410653	p.His73Gln	missense variant	-	NC_000009.12:g.87971306G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1416652579	p.His73Arg	missense variant	-	NC_000009.12:g.87971307T>C	gnomAD
rs749920703	p.His73Tyr	missense variant	-	NC_000009.12:g.87971308G>A	ExAC,gnomAD
rs764037601	p.Gly74Asp	missense variant	-	NC_000009.12:g.87971304C>T	ExAC,gnomAD
rs761408768	p.Gly74Ser	missense variant	-	NC_000009.12:g.87971305C>T	ExAC,TOPMed,gnomAD
rs764037601	p.Gly74Ala	missense variant	-	NC_000009.12:g.87971304C>G	ExAC,gnomAD
rs760540412	p.Gly75Arg	missense variant	-	NC_000009.12:g.87971302C>T	ExAC,gnomAD
rs775356611	p.Gly76Asp	missense variant	-	NC_000009.12:g.87971298C>T	ExAC,TOPMed,gnomAD
rs1160950011	p.Gly76Ser	missense variant	-	NC_000009.12:g.87971299C>T	TOPMed,gnomAD
rs775356611	p.Gly76Ala	missense variant	-	NC_000009.12:g.87971298C>G	ExAC,TOPMed,gnomAD
rs772151523	p.Val78Met	missense variant	-	NC_000009.12:g.87971293C>T	ExAC,gnomAD
rs759499348	p.Val78Ala	missense variant	-	NC_000009.12:g.87971292A>G	ExAC,gnomAD
rs769886503	p.Leu79Met	missense variant	-	NC_000009.12:g.87971290G>T	ExAC,gnomAD
rs1348334911	p.Phe81Leu	missense variant	-	NC_000009.12:g.87971282A>C	TOPMed
rs938184258	p.Phe81Leu	missense variant	-	NC_000009.12:g.87971284A>G	TOPMed,gnomAD
rs1321525635	p.Glu82Asp	missense variant	-	NC_000009.12:g.87971279C>G	gnomAD
rs781467120	p.Phe83Leu	missense variant	-	NC_000009.12:g.87971278A>G	ExAC,gnomAD
rs758932557	p.Met84Lys	missense variant	-	NC_000009.12:g.87971274A>T	ExAC,TOPMed,gnomAD
rs758932557	p.Met84Thr	missense variant	-	NC_000009.12:g.87971274A>G	ExAC,TOPMed,gnomAD
rs143756400	p.Met84Val	missense variant	-	NC_000009.12:g.87971275T>C	ESP,ExAC,TOPMed,gnomAD
rs746350961	p.Leu85Pro	missense variant	-	NC_000009.12:g.87971271A>G	ExAC,gnomAD
rs746350961	p.Leu85Arg	missense variant	-	NC_000009.12:g.87971271A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu85Met	missense variant	-	NC_000009.12:g.87971272G>T	NCI-TCGA
rs28364953	p.Ser86Leu	missense variant	-	NC_000009.12:g.87971268G>A	ESP,ExAC,TOPMed,gnomAD
rs1162597946	p.Leu88Arg	missense variant	-	NC_000009.12:g.87971262A>C	gnomAD
rs376766367	p.Ala89Asp	missense variant	-	NC_000009.12:g.87971259G>T	ESP,ExAC,TOPMed,gnomAD
rs763841221	p.Ala89Thr	missense variant	-	NC_000009.12:g.87971260C>T	ExAC,gnomAD
rs376766367	p.Ala89Gly	missense variant	-	NC_000009.12:g.87971259G>C	ESP,ExAC,TOPMed,gnomAD
rs759432942	p.Glu90Lys	missense variant	-	NC_000009.12:g.87971257C>T	ExAC,TOPMed,gnomAD
rs564653137	p.Val91Met	missense variant	-	NC_000009.12:g.87971254C>T	1000Genomes
rs200828251	p.Val92Leu	missense variant	-	NC_000009.12:g.87971251C>A	1000Genomes,ExAC,gnomAD
rs144310084	p.Arg93His	missense variant	-	NC_000009.12:g.87971247C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761951896	p.Arg93Cys	missense variant	-	NC_000009.12:g.87971248G>A	ExAC,TOPMed,gnomAD
rs768885451	p.Ala95Val	missense variant	-	NC_000009.12:g.87971241G>A	ExAC,gnomAD
rs775868376	p.Gln96Glu	missense variant	-	NC_000009.12:g.87971239G>C	ExAC
COSM3659383	p.Arg97Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87971235C>T	NCI-TCGA Cosmic
rs772400848	p.Pro98Leu	missense variant	-	NC_000009.12:g.87971232G>A	ExAC,TOPMed,gnomAD
rs1167291350	p.Gln101Pro	missense variant	-	NC_000009.12:g.87971223T>G	gnomAD
rs1395061297	p.Gln101Ter	stop gained	-	NC_000009.12:g.87971224G>A	gnomAD
rs1460437228	p.Gln103Arg	missense variant	-	NC_000009.12:g.87971217T>C	gnomAD
rs892523635	p.Val104Ile	missense variant	-	NC_000009.12:g.87971215C>T	TOPMed,gnomAD
rs1374267547	p.Lys105Arg	missense variant	-	NC_000009.12:g.87971211T>C	TOPMed,gnomAD
COSM1569882	p.Lys105Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87971210C>G	NCI-TCGA Cosmic
rs41286029	p.Ser106Asn	missense variant	-	NC_000009.12:g.87971208C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41286029	p.Ser106Asn	missense variant	-	NC_000009.12:g.87971208C>T	UniProt,dbSNP
VAR_041957	p.Ser106Asn	missense variant	-	NC_000009.12:g.87971208C>T	UniProt
rs200737032	p.Ser106Gly	missense variant	-	NC_000009.12:g.87971209T>C	1000Genomes
rs757636291	p.Leu108Arg	missense variant	-	NC_000009.12:g.87971202A>C	ExAC,gnomAD
rs1250770459	p.Gln109Arg	missense variant	-	NC_000009.12:g.87971199T>C	gnomAD
rs965150299	p.Met110Leu	missense variant	-	NC_000009.12:g.87971197T>A	TOPMed
rs748842542	p.Met110Ile	missense variant	-	NC_000009.12:g.87971195C>T	ExAC
rs777370245	p.Leu112Pro	missense variant	-	NC_000009.12:g.87971190A>G	ExAC,gnomAD
rs1336399418	p.Leu112Phe	missense variant	-	NC_000009.12:g.87971191G>A	gnomAD
rs1394523485	p.Lys113Gln	missense variant	-	NC_000009.12:g.87971188T>G	TOPMed,gnomAD
rs755864917	p.Lys113Asn	missense variant	-	NC_000009.12:g.87971186C>G	ExAC,TOPMed,gnomAD
rs1194562233	p.Gly114Asp	missense variant	-	NC_000009.12:g.87971184C>T	gnomAD
rs1455347024	p.Gly114Ser	missense variant	-	NC_000009.12:g.87971185C>T	TOPMed
rs752366494	p.Val115Phe	missense variant	-	NC_000009.12:g.87971182C>A	ExAC,gnomAD
rs754792892	p.Ala116Thr	missense variant	-	NC_000009.12:g.87971179C>T	ExAC,TOPMed,gnomAD
rs1305925018	p.Ala120Asp	missense variant	-	NC_000009.12:g.87971166G>T	gnomAD
rs766346750	p.Asn121His	missense variant	-	NC_000009.12:g.87971164T>G	ExAC,gnomAD
rs762743425	p.Asn122Ile	missense variant	-	NC_000009.12:g.87971160T>A	ExAC,gnomAD
rs764125008	p.Ile123Thr	missense variant	-	NC_000009.12:g.87971157A>G	ExAC
rs1326708024	p.His125Tyr	missense variant	-	NC_000009.12:g.87971152G>A	TOPMed
rs1298196228	p.His125Arg	missense variant	-	NC_000009.12:g.87971151T>C	gnomAD
rs1326708024	p.His125Asn	missense variant	-	NC_000009.12:g.87971152G>T	TOPMed
rs760931795	p.Arg126Trp	missense variant	-	NC_000009.12:g.87971149G>A	ExAC,TOPMed,gnomAD
rs200880555	p.Arg126Gln	missense variant	-	NC_000009.12:g.87971148C>T	ESP,ExAC,TOPMed,gnomAD
rs773843473	p.Asp127Asn	missense variant	-	NC_000009.12:g.87970897C>T	ExAC,gnomAD
rs1353560932	p.Pro130Ser	missense variant	-	NC_000009.12:g.87970888G>A	gnomAD
rs1294520351	p.Ala131Thr	missense variant	-	NC_000009.12:g.87970885C>T	gnomAD
NCI-TCGA novel	p.Ala131Val	missense variant	-	NC_000009.12:g.87970884G>A	NCI-TCGA
rs1414881460	p.Leu133Met	missense variant	-	NC_000009.12:g.87970879G>T	gnomAD
rs28364955	p.Ala137Thr	missense variant	-	NC_000009.12:g.87970867C>T	ESP,ExAC,TOPMed,gnomAD
rs187262831	p.Ser138Leu	missense variant	-	NC_000009.12:g.87970863G>A	1000Genomes,ExAC,gnomAD
rs758110676	p.Gly139Asp	missense variant	-	NC_000009.12:g.87970860C>T	ExAC,gnomAD
rs779946018	p.Gly139Ser	missense variant	-	NC_000009.12:g.87970861C>T	ExAC,gnomAD
rs778826223	p.Gln140Glu	missense variant	-	NC_000009.12:g.87970858G>C	ExAC,gnomAD
rs778826223	p.Gln140Lys	missense variant	-	NC_000009.12:g.87970858G>T	ExAC,gnomAD
rs563239873	p.Lys142Asn	missense variant	-	NC_000009.12:g.87970850C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs563239873	p.Lys142Asn	missense variant	-	NC_000009.12:g.87970850C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs752794930	p.Ile143Val	missense variant	-	NC_000009.12:g.87970849T>C	ExAC,gnomAD
rs759844599	p.Ala144Val	missense variant	-	NC_000009.12:g.87970845G>A	ExAC,TOPMed,gnomAD
rs759844599	p.Ala144Glu	missense variant	-	NC_000009.12:g.87970845G>T	ExAC,TOPMed,gnomAD
rs1275000049	p.Gly147Ala	missense variant	-	NC_000009.12:g.87970836C>G	gnomAD
rs1332515110	p.Gly147Ser	missense variant	-	NC_000009.12:g.87970837C>T	gnomAD
rs1233318712	p.Leu148Val	missense variant	-	NC_000009.12:g.87970834G>C	gnomAD
rs770440691	p.Arg150Gln	missense variant	-	NC_000009.12:g.87970827C>T	ExAC,TOPMed,gnomAD
rs770440691	p.Arg150Pro	missense variant	-	NC_000009.12:g.87970827C>G	ExAC,TOPMed,gnomAD
rs773649314	p.Arg150Ter	stop gained	-	NC_000009.12:g.87970828G>A	ExAC,TOPMed,gnomAD
rs533645713	p.Ser153Phe	missense variant	-	NC_000009.12:g.87970818G>A	1000Genomes,ExAC
rs1325567742	p.Ser153Ala	missense variant	-	NC_000009.12:g.87970819A>C	gnomAD
NCI-TCGA novel	p.Ser153ProPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.87970819_87970820AA>-	NCI-TCGA
rs768026111	p.Pro154Ser	missense variant	-	NC_000009.12:g.87970816G>A	ExAC,gnomAD
rs371154514	p.Asp155Glu	missense variant	-	NC_000009.12:g.87970811G>T	ExAC,TOPMed,gnomAD
rs371154514	p.Asp155Glu	missense variant	-	NC_000009.12:g.87970811G>C	ExAC,TOPMed,gnomAD
rs1397276988	p.Asp155His	missense variant	-	NC_000009.12:g.87970813C>G	TOPMed,gnomAD
rs746728938	p.Asp155Gly	missense variant	-	NC_000009.12:g.87970812T>C	ExAC,TOPMed,gnomAD
rs141798102	p.Gly156Ser	missense variant	-	NC_000009.12:g.87970810C>T	ESP,ExAC,TOPMed,gnomAD
rs749193605	p.Ser157Gly	missense variant	-	NC_000009.12:g.87970807T>C	ExAC,TOPMed,gnomAD
rs781383546	p.Ser157Asn	missense variant	-	NC_000009.12:g.87970806C>T	ExAC,gnomAD
rs138173042	p.Arg158Cys	missense variant	-	NC_000009.12:g.87970804G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751877021	p.Arg158His	missense variant	-	NC_000009.12:g.87970803C>T	ExAC,gnomAD
rs1254699946	p.Leu159Val	missense variant	-	NC_000009.12:g.87970801G>C	gnomAD
rs1195717652	p.Leu159Pro	missense variant	-	NC_000009.12:g.87970800A>G	TOPMed
rs1437223296	p.Thr161Ile	missense variant	-	NC_000009.12:g.87970794G>A	TOPMed,gnomAD
rs1215815520	p.His162Arg	missense variant	-	NC_000009.12:g.87970791T>C	gnomAD
rs1270263001	p.His162Asn	missense variant	-	NC_000009.12:g.87970792G>T	gnomAD
rs376251813	p.His162Gln	missense variant	-	NC_000009.12:g.87970790G>C	ESP,ExAC,TOPMed,gnomAD
rs1302278108	p.Gln163His	missense variant	-	NC_000009.12:g.87970787C>G	gnomAD
rs750842971	p.Arg167Thr	missense variant	-	NC_000009.12:g.87970776C>G	ExAC,gnomAD
rs759237083	p.Trp168Ter	stop gained	-	NC_000009.12:g.87970627C>T	ExAC,gnomAD
rs777935532	p.Arg170Gln	missense variant	-	NC_000009.12:g.87970622C>T	ExAC,TOPMed,gnomAD
rs773980056	p.Arg170Ter	stop gained	-	NC_000009.12:g.87970623G>A	ExAC,gnomAD
rs780324274	p.Glu173Val	missense variant	-	NC_000009.12:g.87970613T>A	ExAC,gnomAD
rs748082212	p.Glu173Lys	missense variant	-	NC_000009.12:g.87970614C>T	ExAC,TOPMed,gnomAD
rs746155488	p.Tyr176Phe	missense variant	-	NC_000009.12:g.87970604T>A	ExAC,gnomAD
rs565837414	p.Arg179His	missense variant	-	NC_000009.12:g.87970595C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs138822378	p.Arg179Cys	missense variant	-	NC_000009.12:g.87970596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1338441988	p.Gly184Ser	missense variant	-	NC_000009.12:g.87970581C>T	TOPMed,gnomAD
rs377248921	p.Val185Ile	missense variant	-	NC_000009.12:g.87970578C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val185Ala	missense variant	-	NC_000009.12:g.87970577A>G	NCI-TCGA
rs1475919525	p.Asp186Asn	missense variant	-	NC_000009.12:g.87970575C>T	TOPMed,gnomAD
rs753179373	p.Trp188Ter	stop gained	-	NC_000009.12:g.87970568C>T	ExAC,gnomAD
rs753179373	p.Trp188Ser	missense variant	-	NC_000009.12:g.87970568C>G	ExAC,gnomAD
rs1256294519	p.Trp188Arg	missense variant	-	NC_000009.12:g.87970569A>G	gnomAD
rs1057519438	p.Trp188Cys	missense variant	-	NC_000009.12:g.87969919C>G	gnomAD
rs1057519438	p.Trp188Ter	stop gained	-	NC_000009.12:g.87969919C>T	gnomAD
NCI-TCGA novel	p.Ser189Phe	missense variant	-	NC_000009.12:g.87969917G>A	NCI-TCGA
NCI-TCGA novel	p.Val190Ala	missense variant	-	NC_000009.12:g.87969914A>G	NCI-TCGA
rs527972382	p.Gly191Ser	missense variant	-	NC_000009.12:g.87969912C>T	1000Genomes,ExAC,gnomAD
rs1436726154	p.Cys192Tyr	missense variant	-	NC_000009.12:g.87969908C>T	TOPMed
rs1295719575	p.Ile193Val	missense variant	-	NC_000009.12:g.87969906T>C	TOPMed
rs764146080	p.Met194Ile	missense variant	-	NC_000009.12:g.87969901C>G	ExAC,TOPMed,gnomAD
rs572683683	p.Gly195Glu	missense variant	-	NC_000009.12:g.87969899C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly195Val	missense variant	-	NC_000009.12:g.87969899C>A	NCI-TCGA
rs774612021	p.Glu196Gln	missense variant	-	NC_000009.12:g.87969897C>G	ExAC,gnomAD
rs774612021	p.Glu196Lys	missense variant	-	NC_000009.12:g.87969897C>T	ExAC,gnomAD
COSM1331452	p.Asn199Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969886A>C	NCI-TCGA Cosmic
rs749529423	p.Gly200Ala	missense variant	-	NC_000009.12:g.87969884C>G	ExAC,gnomAD
COSM1133848	p.Gly200Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969884C>A	NCI-TCGA Cosmic
rs1194111795	p.Ser201Pro	missense variant	-	NC_000009.12:g.87969882A>G	gnomAD
rs568591129	p.Pro202Ser	missense variant	-	NC_000009.12:g.87969879G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1210421623	p.Leu203Phe	missense variant	-	NC_000009.12:g.87969876G>A	gnomAD
rs745561217	p.Phe204Leu	missense variant	-	NC_000009.12:g.87969873A>G	ExAC,gnomAD
RCV000492039	p.Phe204Leu	missense variant	Global developmental delay (DD)	NC_000009.12:g.87969873A>G	ClinVar
rs748528097	p.Pro205Leu	missense variant	-	NC_000009.12:g.87969869G>A	ExAC,TOPMed,gnomAD
COSM3927183	p.Pro205Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969870G>A	NCI-TCGA Cosmic
rs755513549	p.Gly206Cys	missense variant	-	NC_000009.12:g.87969867C>A	ExAC,gnomAD
rs531734804	p.Lys207Arg	missense variant	-	NC_000009.12:g.87969863T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1351788453	p.Lys207Asn	missense variant	-	NC_000009.12:g.87969862C>A	gnomAD
rs149053570	p.Asn208Lys	missense variant	-	NC_000009.12:g.87969859G>C	ESP,ExAC,TOPMed,gnomAD
rs764954066	p.Asp209Gly	missense variant	-	NC_000009.12:g.87969857T>C	ExAC,gnomAD
rs749832611	p.Asp209Asn	missense variant	-	NC_000009.12:g.87969858C>T	ExAC,TOPMed,gnomAD
rs1466904395	p.Ile210Val	missense variant	-	NC_000009.12:g.87969855T>C	gnomAD
rs756918547	p.Glu211Ter	stop gained	-	NC_000009.12:g.87969852C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu211Lys	missense variant	-	NC_000009.12:g.87969852C>T	NCI-TCGA
rs753715827	p.Gln212Ter	stop gained	-	NC_000009.12:g.87969849G>A	ExAC,TOPMed,gnomAD
rs1187315434	p.Tyr215Asn	missense variant	-	NC_000009.12:g.87969840A>T	gnomAD
rs1187315434	p.Tyr215His	missense variant	-	NC_000009.12:g.87969840A>G	gnomAD
rs760742770	p.Val216Met	missense variant	-	NC_000009.12:g.87969837C>T	ExAC,TOPMed,gnomAD
rs150288403	p.Arg218His	missense variant	-	NC_000009.12:g.87969830C>T	ESP,ExAC,TOPMed,gnomAD
rs137929831	p.Arg218Cys	missense variant	-	NC_000009.12:g.87969831G>A	ESP,ExAC,TOPMed,gnomAD
rs1299372843	p.Ile219Leu	missense variant	-	NC_000009.12:g.87969828T>G	TOPMed
rs1331145578	p.Gly221Asp	missense variant	-	NC_000009.12:g.87969821C>T	gnomAD
rs773109910	p.Pro223Leu	missense variant	-	NC_000009.12:g.87969815G>A	ExAC,gnomAD
rs1398668804	p.Pro223Ala	missense variant	-	NC_000009.12:g.87969816G>C	TOPMed
rs748332147	p.Pro225Ser	missense variant	-	NC_000009.12:g.87969810G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro225Leu	missense variant	-	NC_000009.12:g.87969809G>A	NCI-TCGA
rs893580258	p.Val227Ile	missense variant	-	NC_000009.12:g.87969804C>T	gnomAD
rs1384681039	p.Trp228Arg	missense variant	-	NC_000009.12:g.87969801A>G	TOPMed,gnomAD
rs545862742	p.Pro229Gln	missense variant	-	NC_000009.12:g.87969797G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs545862742	p.Pro229Leu	missense variant	-	NC_000009.12:g.87969797G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1243307343	p.Glu230Lys	missense variant	-	NC_000009.12:g.87969349C>T	TOPMed
rs201816662	p.Glu230Gly	missense variant	-	NC_000009.12:g.87969348T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3732153	p.Leu231Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969346G>T	NCI-TCGA Cosmic
rs1409489670	p.Thr232Asn	missense variant	-	NC_000009.12:g.87969342G>T	gnomAD
rs186722916	p.Pro235Leu	missense variant	-	NC_000009.12:g.87969333G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1248406478	p.Asp236Glu	missense variant	-	NC_000009.12:g.87969329G>T	gnomAD
rs1198899030	p.Tyr237Ter	stop gained	-	NC_000009.12:g.87969326G>T	TOPMed,gnomAD
rs536801172	p.Asn238Ser	missense variant	-	NC_000009.12:g.87969324T>C	gnomAD
rs1240327568	p.Lys239Gln	missense variant	-	NC_000009.12:g.87969322T>G	gnomAD
COSM3659373	p.Ser241Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969315G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys243Asn	missense variant	-	NC_000009.12:g.87969308C>G	NCI-TCGA
rs1279989830	p.Met248Thr	missense variant	-	NC_000009.12:g.87969294A>G	gnomAD
rs775960700	p.Met248Val	missense variant	-	NC_000009.12:g.87969295T>C	ExAC,gnomAD
rs774994161	p.Glu251Ala	missense variant	-	NC_000009.12:g.87969285T>G	ExAC,TOPMed
rs1275933824	p.Glu251Gln	missense variant	-	NC_000009.12:g.87969286C>G	gnomAD
rs748821346	p.Glu252Val	missense variant	-	NC_000009.12:g.87969282T>A	ExAC,TOPMed,gnomAD
rs777370060	p.Glu252Asp	missense variant	-	NC_000009.12:g.87969281C>A	ExAC,TOPMed,gnomAD
rs1403719210	p.Val253Met	missense variant	-	NC_000009.12:g.87969280C>T	TOPMed
rs1430565408	p.Val253Glu	missense variant	-	NC_000009.12:g.87969279A>T	gnomAD
rs1172727847	p.Leu254Val	missense variant	-	NC_000009.12:g.87969277G>C	gnomAD
rs1412573237	p.Leu254Arg	missense variant	-	NC_000009.12:g.87969276A>C	TOPMed,gnomAD
rs1469615212	p.Val257Ala	missense variant	-	NC_000009.12:g.87969267A>G	TOPMed,gnomAD
rs140721514	p.Val257Ile	missense variant	-	NC_000009.12:g.87969268C>T	ESP,ExAC,gnomAD
rs371639597	p.Pro259Leu	missense variant	-	NC_000009.12:g.87969261G>A	ESP,TOPMed
rs947488512	p.Pro259Ser	missense variant	-	NC_000009.12:g.87969262G>A	TOPMed
rs779975575	p.Ala261Val	missense variant	-	NC_000009.12:g.87969255G>A	ExAC,gnomAD
rs182185602	p.Ala261Ser	missense variant	-	NC_000009.12:g.87969256C>A	1000Genomes,gnomAD
rs182185602	p.Ala261Thr	missense variant	-	NC_000009.12:g.87969256C>T	1000Genomes,gnomAD
rs1314290992	p.Leu262Trp	missense variant	-	NC_000009.12:g.87969252A>C	gnomAD
rs1279856968	p.Asp263His	missense variant	-	NC_000009.12:g.87969250C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp263Tyr	missense variant	-	NC_000009.12:g.87969250C>A	NCI-TCGA
rs1223713527	p.Leu264Met	missense variant	-	NC_000009.12:g.87969247G>T	gnomAD
rs561972246	p.Gln267Pro	missense variant	-	NC_000009.12:g.87969237T>G	1000Genomes
rs758278980	p.Gln267Glu	missense variant	-	NC_000009.12:g.87969238G>C	ExAC,TOPMed,gnomAD
rs1290224899	p.Phe268Leu	missense variant	-	NC_000009.12:g.87969235A>G	gnomAD
rs1410536674	p.Phe268Leu	missense variant	-	NC_000009.12:g.87969233G>T	gnomAD
rs764125059	p.Leu270Ile	missense variant	-	NC_000009.12:g.87969229G>T	ExAC,gnomAD
rs756406227	p.Tyr271His	missense variant	-	NC_000009.12:g.87969226A>G	ExAC,gnomAD
rs1358019762	p.His274Gln	missense variant	-	NC_000009.12:g.87969215G>T	TOPMed,gnomAD
rs923818970	p.Gln275His	missense variant	-	NC_000009.12:g.87969212C>G	gnomAD
rs767990766	p.Arg276Cys	missense variant	-	NC_000009.12:g.87969211G>A	ExAC,TOPMed,gnomAD
rs369652911	p.Arg276His	missense variant	-	NC_000009.12:g.87969210C>T	ESP,ExAC,TOPMed,gnomAD
rs146863842	p.Ile277Val	missense variant	-	NC_000009.12:g.87969208T>C	ESP,ExAC,TOPMed,gnomAD
rs542111446	p.Ala278Thr	missense variant	-	NC_000009.12:g.87969205C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1179745276	p.Ser280Phe	missense variant	-	NC_000009.12:g.87969198G>A	TOPMed,gnomAD
rs372790696	p.Lys281Glu	missense variant	-	NC_000009.12:g.87969196T>C	ESP,ExAC,gnomAD
rs28364963	p.Lys281Arg	missense variant	-	NC_000009.12:g.87969195T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28364963	p.Lys281Arg	missense variant	-	NC_000009.12:g.87969195T>C	UniProt,dbSNP
VAR_024764	p.Lys281Arg	missense variant	-	NC_000009.12:g.87969195T>C	UniProt
rs562649016	p.Lys281Asn	missense variant	-	NC_000009.12:g.87969194C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1468477682	p.Ala282Gly	missense variant	-	NC_000009.12:g.87967658G>C	gnomAD
rs1263687427	p.Tyr287Cys	missense variant	-	NC_000009.12:g.87967643T>C	TOPMed,gnomAD
rs1187037434	p.Phe288Leu	missense variant	-	NC_000009.12:g.87967641A>G	TOPMed
rs1322515496	p.Thr290Arg	missense variant	-	NC_000009.12:g.87967634G>C	gnomAD
rs1226530747	p.Ala291Val	missense variant	-	NC_000009.12:g.87967631G>A	gnomAD
rs1295088084	p.Ala291Thr	missense variant	-	NC_000009.12:g.87967632C>T	gnomAD
rs967065854	p.Pro292Leu	missense variant	-	NC_000009.12:g.87967628G>A	TOPMed,gnomAD
rs1165551222	p.Leu293Pro	missense variant	-	NC_000009.12:g.87967625A>G	TOPMed
rs1389943445	p.Pro294Leu	missense variant	-	NC_000009.12:g.87967622G>A	gnomAD
rs949364041	p.Ala295Thr	missense variant	-	NC_000009.12:g.87967620C>T	TOPMed,gnomAD
NCI-TCGA novel	p.His296Tyr	missense variant	-	NC_000009.12:g.87967617G>A	NCI-TCGA
rs1350000332	p.Ser298Pro	missense variant	-	NC_000009.12:g.87967611A>G	gnomAD
rs1014017495	p.Ser298Cys	missense variant	-	NC_000009.12:g.87967610G>C	TOPMed
rs894292510	p.Leu300Pro	missense variant	-	NC_000009.12:g.87967604A>G	TOPMed
rs761237402	p.Pro301Leu	missense variant	-	NC_000009.12:g.87967601G>A	ExAC,TOPMed,gnomAD
rs1246540845	p.Ile302Thr	missense variant	-	NC_000009.12:g.87967598A>G	TOPMed
rs992747412	p.Arg305Cys	missense variant	-	NC_000009.12:g.87967590G>A	TOPMed,gnomAD
rs992747412	p.Arg305Gly	missense variant	-	NC_000009.12:g.87967590G>C	TOPMed,gnomAD
rs376253655	p.Arg305His	missense variant	-	NC_000009.12:g.87967589C>T	ESP,ExAC,TOPMed,gnomAD
rs768220194	p.Leu306Pro	missense variant	-	NC_000009.12:g.87967586A>G	ExAC,gnomAD
rs546834228	p.Gly307Arg	missense variant	-	NC_000009.12:g.87967584C>G	1000Genomes,ExAC,gnomAD
rs536058766	p.Gly308Glu	missense variant	-	NC_000009.12:g.87967580C>T	1000Genomes,TOPMed
rs536058766	p.Gly308Val	missense variant	-	NC_000009.12:g.87967580C>A	1000Genomes,TOPMed
rs1203283437	p.Pro309Thr	missense variant	-	NC_000009.12:g.87967578G>T	TOPMed,gnomAD
rs1344592835	p.Ala310Ser	missense variant	-	NC_000009.12:g.87967575C>A	gnomAD
rs1276442620	p.Pro311Ser	missense variant	-	NC_000009.12:g.87967572G>A	gnomAD
COSM5359074	p.Lys312ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.87967570G>-	NCI-TCGA Cosmic
rs1330406038	p.Ala313Thr	missense variant	-	NC_000009.12:g.87967566C>T	gnomAD
rs771839370	p.Ala313Val	missense variant	-	NC_000009.12:g.87967565G>A	ExAC,gnomAD
rs1367679044	p.His314Asp	missense variant	-	NC_000009.12:g.87967563G>C	gnomAD
rs1411967033	p.Pro317Thr	missense variant	-	NC_000009.12:g.87967554G>T	gnomAD
rs1047026908	p.Pro318Arg	missense variant	-	NC_000009.12:g.87967550G>C	TOPMed
rs151084868	p.His319Asp	missense variant	-	NC_000009.12:g.87967548G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151084868	p.His319Tyr	missense variant	-	NC_000009.12:g.87967548G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151084868	p.His319Asn	missense variant	-	NC_000009.12:g.87967548G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs67862915	p.His319ThrPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.87967548G>-	NCI-TCGA,NCI-TCGA Cosmic
rs1465830604	p.Asp322Val	missense variant	-	NC_000009.12:g.87967538T>A	gnomAD
rs755195947	p.Phe323Leu	missense variant	-	NC_000009.12:g.87967534G>C	ExAC,gnomAD
rs911387002	p.His324Tyr	missense variant	-	NC_000009.12:g.87967533G>A	TOPMed,gnomAD
rs751810960	p.His324Leu	missense variant	-	NC_000009.12:g.87967532T>A	ExAC,gnomAD
rs56736734	p.Val325Leu	missense variant	-	NC_000009.12:g.87967530C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs56736734	p.Val325Met	missense variant	-	NC_000009.12:g.87967530C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1252848084	p.Asp326His	missense variant	-	NC_000009.12:g.87967527C>G	gnomAD
rs1192063245	p.Asp326Gly	missense variant	-	NC_000009.12:g.87967526T>C	gnomAD
rs750753248	p.Arg327Trp	missense variant	-	NC_000009.12:g.87967524G>A	ExAC,TOPMed,gnomAD
rs1254082419	p.Arg327Gln	missense variant	-	NC_000009.12:g.87967523C>T	gnomAD
rs1206372928	p.Pro328Leu	missense variant	-	NC_000009.12:g.87967520G>A	TOPMed
rs1235319450	p.Leu329Ile	missense variant	-	NC_000009.12:g.87967518G>T	gnomAD
rs765679617	p.Glu330Gln	missense variant	-	NC_000009.12:g.87967515C>G	ExAC
rs762337811	p.Glu331Lys	missense variant	-	NC_000009.12:g.87967512C>T	ExAC,TOPMed,gnomAD
rs762337811	p.Glu331Ter	stop gained	-	NC_000009.12:g.87967512C>A	ExAC,TOPMed,gnomAD
rs753325373	p.Glu331Ala	missense variant	-	NC_000009.12:g.87967511T>G	ExAC,TOPMed,gnomAD
rs148526196	p.Ser332Leu	missense variant	-	NC_000009.12:g.87967508G>A	ESP,ExAC,TOPMed,gnomAD
rs774986947	p.Asn335Ser	missense variant	-	NC_000009.12:g.87967499T>C	ExAC,gnomAD
rs753328488	p.Arg340Gln	missense variant	-	NC_000009.12:g.87967484C>T	TOPMed,gnomAD
rs759457795	p.Arg340Trp	missense variant	-	NC_000009.12:g.87967485G>A	ExAC,TOPMed,gnomAD
rs200199265	p.Pro341Ser	missense variant	-	NC_000009.12:g.87967482G>A	ExAC,TOPMed,gnomAD
rs1412854696	p.Ile343Leu	missense variant	-	NC_000009.12:g.87967476T>G	gnomAD
rs749137955	p.Glu345Ala	missense variant	-	NC_000009.12:g.87967469T>G	ExAC,gnomAD
rs370501448	p.Gly346Glu	missense variant	-	NC_000009.12:g.87967466C>T	ESP,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001956	Alcohol Use Disorder	disease	CTD_human
C0001973	Alcoholic Intoxication, Chronic	disease	CTD_human
C0017636	Glioblastoma	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	CLINVAR
C0020179	Huntington Disease	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0036572	Seizures	phenotype	CLINVAR
C0085762	Alcohol abuse	disease	CTD_human
C0087012	Ataxia, Spinocerebellar	disease	BEFREE
C0233794	Memory impairment	phenotype	BEFREE
C0240066	Iron deficiency	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0476227	pricking of skin	phenotype	BEFREE
C0600104	Obsessive compulsive behavior	disease	CLINVAR
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C1263846	Attention deficit hyperactivity disorder	disease	CLINVAR
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1843367	Poor school performance	phenotype	CLINVAR
C4020875	Mental and motor retardation	phenotype	CLINVAR

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004693	cyclin-dependent protein serine/threonine kinase activity	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006468	protein phosphorylation	IBA
GO:0007049	cell cycle	IEA
GO:0007275	multicellular organism development	IEA
GO:0051301	cell division	IEA
GO:0051726	regulation of cell cycle	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IEA
GO:0005929	cilium	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of CDK20 mRNA	31388691
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of CDK20 mRNA	21346803
C496492	abrine	abrine results in increased expression of CDK20 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of CDK20 mRNA	19770486
D001280	Atrazine	Atrazine results in decreased expression of CDK20 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CDK20 mRNA	20064835; 22316170;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CDK20 mRNA	22228805
C044887	beta-methylcholine	beta-methylcholine affects the expression of CDK20 mRNA	21179406
C006780	bisphenol A	bisphenol A results in increased expression of CDK20 mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased methylation of CDK20 exon	30906313
C006780	bisphenol A	bisphenol A affects the expression of CDK20 mRNA	25181051
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of CDK20 mRNA	16934159
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CDK20 gene	20938992
D003976	Diazinon	Diazinon affects the expression of CDK20 mRNA	22546817
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of CDK20 mRNA	21266533
D004026	Dieldrin	Dieldrin results in decreased expression of CDK20 mRNA	20438755
D004041	Dietary Fats	Dietary Fats results in decreased expression of CDK20 mRNA	25016146
D004317	Doxorubicin	Doxorubicin results in decreased expression of CDK20 mRNA	29803840
D000431	Ethanol	CDK20 gene SNP affects the susceptibility to Ethanol	18438686
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CDK20 mRNA	17942748
D011345	Fenofibrate	Fenofibrate results in increased expression of CDK20 mRNA	25572481
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CDK20 gene	20938992
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of CDK20 mRNA	25307878
D000077339	Leflunomide	Leflunomide results in increased expression of CDK20 mRNA	24136188
D008627	Mercuric Chloride	Mercuric Chloride results in increased expression of CDK20 mRNA	16507785
D008694	Methamphetamine	Methamphetamine affects the expression of CDK20 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CDK20 gene	20938992
C091888	monoisoamyl-2,3-dimercaptosuccinate	monoisoamyl-2,3-dimercaptosuccinate inhibits the reaction [sodium arsenite results in decreased expression of CDK20 mRNA]	19615344
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of CDK20 mRNA	25620056
C022838	nickel chloride	nickel chloride affects the expression of CDK20 mRNA	22546817
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of CDK20 mRNA	20188158
D017239	Paclitaxel	Paclitaxel results in decreased expression of CDK20 mRNA	18058816
D052638	Particulate Matter	Particulate Matter results in decreased expression of CDK20 mRNA	29703138
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of CDK20 mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in decreased expression of CDK20 mRNA	23557933
D011374	Progesterone	Progesterone results in decreased expression of CDK20 mRNA	23018184
D011718	Pyrazinamide	Pyrazinamide results in decreased expression of CDK20 mRNA	22431067
D012402	Rotenone	Rotenone results in decreased expression of CDK20 mRNA	19013527
C017947	sodium arsenite	monoisoamyl-2,3-dimercaptosuccinate inhibits the reaction [sodium arsenite results in decreased expression of CDK20 mRNA]	19615344
C017947	sodium arsenite	sodium arsenite results in decreased expression of CDK20 mRNA	19615344
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CDK20 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CDK20 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of CDK20 mRNA	25975270
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CDK20 mRNA	22298810
D013853	Thioacetamide	Thioacetamide results in increased expression of CDK20 mRNA	23411599
D014635	Valproic Acid	Valproic Acid results in increased expression of CDK20 mRNA	29154799
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of CDK20 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0131	Cell cycle
KW-0132	Cell division
KW-0966	Cell projection
KW-0969	Cilium
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0418	Kinase
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0723	Serine/threonine-protein kinase
KW-0808	Transferase

Interpro

InterPro ID	InterPro Term
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR017441	Protein_kinase_ATP_BS
IPR008271	Ser/Thr_kinase_AS

PROSITE

PROSITE ID	PROSITE Term
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00108	PROTEIN_KINASE_ST

Pfam

Pfam ID	Pfam Term
PF00069	Pkinase

Gene: CDK20

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