CleftGeneDB-Search

Gene: CDKN1C

Basic information

Tag	Content
Uniprot ID	P49918
Entrez ID	1028
Genbank protein ID	BAA11015.1; AAH67842.1; AAB05896.1; BAA11014.1; AAA85095.1;
Genbank nucleotide ID	XM_017017088.1; NM_001122630.1; NM_001122631.1; NM_000076.2;
Ensembl protein ID	ENSP00000411257; ENSP00000411552; ENSP00000413720;
Ensembl nucleotide ID	ENSG00000129757
Gene name	Cyclin-dependent kinase inhibitor 1C
Gene symbol	CDKN1C
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life.
Sequence	MSDASLRSTS TMERLVARGT FPVLVRTSAC RSLFGPVDHE ELSRELQARL AELNAEDQNR 60 WDYDFQQDMP LRGPGRLQWT EVDSDSVPAF YRETVQVGRC RLLLAPRPVA VAVAVSPPLE 120 PAAESLDGLE EAPEQLPSVP VPAPASTPPP VPVLAPAPAP APAPVAAPVA APVAVAVLAP 180 APAPAPAPAP APAPVAAPAP APAPAPAPAP APAPAPDAAP QESAEQGANQ GQRGQEPLAD 240 QLHSGISGRP AAGTAAASAN GAAIKKLSGP LISDFFAKRK RSAPEKSSGD VPAPCPSPSA 300 APGVGSVEQT PRKRLR 316

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	CDKN1C		F1N786			Bos taurus	Prediction	More>>
1:1 ortholog	CDKN1C		A0A452ECM9			Capra hircus	Prediction	More>>
1:1 ortholog	CDKN1C	1028	P49918			Homo sapiens	Prediction	More>>
1:1 ortholog	Cdkn1c	12577	P49919	CPO	E14.5, E17.5	Mus musculus	Publication	More>>
1:1 ortholog	CDKN1C		A0A2I3TME0			Pan troglodytes	Prediction	More>>
1:1 ortholog	CDKN1C		A0A287A9C4			Sus scrofa	Prediction	More>>
1:1 ortholog	Cdkn1c	246060	Q69DC1			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs748680303	p.Ser2Ala	missense variant	-	NC_000011.10:g.2885486A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp3Glu	missense variant	-	NC_000011.10:g.2885481G>T	NCI-TCGA
rs1452796504	p.Asp3Asn	missense variant	-	NC_000011.10:g.2885483C>T	TOPMed
RCV000628528	p.Ala4Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885479G>A	ClinVar
rs201368350	p.Ala4Val	missense variant	-	NC_000011.10:g.2885479G>A	1000Genomes,ExAC,gnomAD
rs201368350	p.Ala4Gly	missense variant	-	NC_000011.10:g.2885479G>C	1000Genomes,ExAC,gnomAD
rs1367640051	p.Ser5Phe	missense variant	-	NC_000011.10:g.2885476G>A	gnomAD
RCV000456489	p.Leu6Pro	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885473A>G	ClinVar
rs201715947	p.Leu6Pro	missense variant	-	NC_000011.10:g.2885473A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000469288	p.Arg7Cys	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885471G>A	ClinVar
rs374634184	p.Arg7Cys	missense variant	-	NC_000011.10:g.2885471G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser8AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.2885453_2885469CCATCGTGGATGTGCTG>-	NCI-TCGA
rs1300493378	p.Thr9Ile	missense variant	-	NC_000011.10:g.2885464G>A	TOPMed,gnomAD
RCV000698775	p.Ser10Tyr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885461G>T	ClinVar
rs1420666038	p.Ser10Tyr	missense variant	-	NC_000011.10:g.2885461G>T	gnomAD
rs1420666038	p.Ser10Phe	missense variant	-	NC_000011.10:g.2885461G>A	gnomAD
RCV000703792	p.Thr11Ala	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885459T>C	ClinVar
rs1360488872	p.Thr11Met	missense variant	-	NC_000011.10:g.2885458G>A	gnomAD
rs483352966	p.Met12Leu	missense variant	-	NC_000011.10:g.2885456T>G	-
rs483352966	p.Met12Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885456T>G	UniProt,dbSNP
VAR_075200	p.Met12Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885456T>G	UniProt
RCV000722767	p.Arg14Ter	frameshift	-	NC_000011.10:g.2885449_2885450insTCTT	ClinVar
rs756961090	p.Leu15Pro	missense variant	-	NC_000011.10:g.2885446A>G	ExAC
rs1425889083	p.Val16Leu	missense variant	-	NC_000011.10:g.2885444C>G	gnomAD
RCV000704283	p.Ala17Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885440G>A	ClinVar
rs1477196859	p.Ala17Val	missense variant	-	NC_000011.10:g.2885440G>A	TOPMed,gnomAD
rs1439697461	p.Arg18Gly	missense variant	-	NC_000011.10:g.2885438G>C	TOPMed
rs954416273	p.Arg18His	missense variant	-	NC_000011.10:g.2885437C>T	TOPMed
rs1194168261	p.Thr20Ala	missense variant	-	NC_000011.10:g.2885432T>C	gnomAD
rs1487817041	p.Pro22Ala	missense variant	-	NC_000011.10:g.2885426G>C	gnomAD
rs758244300	p.Val25Leu	missense variant	-	NC_000011.10:g.2885417C>A	ExAC,gnomAD
rs752482298	p.Val25Gly	missense variant	-	NC_000011.10:g.2885416A>C	ExAC,gnomAD
rs758244300	p.Val25Met	missense variant	-	NC_000011.10:g.2885417C>T	ExAC,gnomAD
rs1277388037	p.Arg26His	missense variant	-	NC_000011.10:g.2885413C>T	gnomAD
rs765255367	p.Arg26Gly	missense variant	-	NC_000011.10:g.2885414G>C	ExAC
rs1282995815	p.Thr27Ile	missense variant	-	NC_000011.10:g.2885410G>A	TOPMed
rs1316822895	p.Ser28Gly	missense variant	-	NC_000011.10:g.2885408T>C	TOPMed
rs1319614382	p.Ala29Val	missense variant	-	NC_000011.10:g.2885404G>A	gnomAD
rs1467420956	p.Arg31Cys	missense variant	-	NC_000011.10:g.2885399G>A	TOPMed
rs1467420956	p.Arg31Ser	missense variant	-	NC_000011.10:g.2885399G>T	TOPMed
RCV000628566	p.Arg31Ser	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885399G>T	ClinVar
RCV000702468	p.Arg31Cys	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885399G>A	ClinVar
rs753973370	p.Ser32Arg	missense variant	-	NC_000011.10:g.2885396T>G	ExAC,gnomAD
RCV000722416	p.Pro36Arg	missense variant	-	NC_000011.10:g.2885383G>C	ClinVar
RCV000691699	p.Pro36Arg	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885383G>C	ClinVar
rs760980314	p.His39Gln	missense variant	-	NC_000011.10:g.2885373G>T	ExAC,gnomAD
rs1360245860	p.His39Tyr	missense variant	-	NC_000011.10:g.2885375G>A	gnomAD
rs1461879669	p.Glu41Val	missense variant	-	NC_000011.10:g.2885368T>A	TOPMed
rs483352967	p.Glu41Ter	stop gained	-	NC_000011.10:g.2885369C>A	TOPMed
rs1426087860	p.Ser43Arg	missense variant	-	NC_000011.10:g.2885361G>C	gnomAD
RCV000527236	p.Arg44Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885359C>A	ClinVar
rs1477382841	p.Arg44Leu	missense variant	-	NC_000011.10:g.2885359C>A	TOPMed,gnomAD
rs956525226	p.Arg44Cys	missense variant	-	NC_000011.10:g.2885360G>A	TOPMed,gnomAD
RCV000691794	p.Arg44His	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885359C>T	ClinVar
RCV000009287	p.Gln47Ter	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885351G>A	ClinVar
rs137852766	p.Gln47Ter	stop gained	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2885351G>A	-
RCV000474168	p.Ala48Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885347G>A	ClinVar
rs774548414	p.Ala48Val	missense variant	-	NC_000011.10:g.2885347G>A	ExAC,TOPMed,gnomAD
rs774548414	p.Ala48Asp	missense variant	-	NC_000011.10:g.2885347G>T	ExAC,TOPMed,gnomAD
rs749713233	p.Arg49Ser	missense variant	-	NC_000011.10:g.2885345G>T	ExAC,TOPMed,gnomAD
rs749713233	p.Arg49Cys	missense variant	-	NC_000011.10:g.2885345G>A	ExAC,TOPMed,gnomAD
rs1258326298	p.Arg49Leu	missense variant	-	NC_000011.10:g.2885344C>A	gnomAD
rs1379349678	p.Ala51Asp	missense variant	-	NC_000011.10:g.2885338G>T	TOPMed
rs483352968	p.Leu53Pro	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885332A>G	UniProt,dbSNP
VAR_075201	p.Leu53Pro	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885332A>G	UniProt
rs483352968	p.Leu53Pro	missense variant	-	NC_000011.10:g.2885332A>G	-
rs1013973901	p.Ala55Ser	missense variant	-	NC_000011.10:g.2885327C>A	TOPMed,gnomAD
rs1450572665	p.Gln58Glu	missense variant	-	NC_000011.10:g.2885318G>C	gnomAD
rs1439751169	p.Asn59Lys	missense variant	-	NC_000011.10:g.2885313G>T	TOPMed
rs1402483625	p.Asn59Tyr	missense variant	-	NC_000011.10:g.2885315T>A	gnomAD
rs758011168	p.Arg60Leu	missense variant	-	NC_000011.10:g.2885311C>A	ExAC,gnomAD
RCV000628554	p.Trp61Ser	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885308C>G	ClinVar
rs1554938211	p.Trp61Ser	missense variant	-	NC_000011.10:g.2885308C>G	-
rs754972138	p.Tyr63Ter	stop gained	-	NC_000011.10:g.2885301G>C	ExAC,gnomAD
rs778520280	p.Tyr63Asp	missense variant	-	NC_000011.10:g.2885303A>C	ExAC,gnomAD
RCV000628545	p.Asp64Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885300_2885301insCCAGCTGGAA	ClinVar
RCV000539829	p.Gln66Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885295del	ClinVar
rs930266866	p.Gln66Arg	missense variant	-	NC_000011.10:g.2885293T>C	TOPMed
rs1424141761	p.Gln66His	missense variant	-	NC_000011.10:g.2885292C>A	gnomAD
rs483352970	p.Pro70Gln	missense variant	-	NC_000011.10:g.2885281G>T	ExAC,gnomAD
rs753651871	p.Pro70Ser	missense variant	-	NC_000011.10:g.2885282G>A	ExAC,gnomAD
rs483352970	p.Pro70Leu	missense variant	-	NC_000011.10:g.2885281G>A	ExAC,gnomAD
rs483352970	p.Pro70Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885281G>A	UniProt,dbSNP
VAR_075203	p.Pro70Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885281G>A	UniProt
rs753651871	p.Pro70Thr	missense variant	-	NC_000011.10:g.2885282G>T	ExAC,gnomAD
rs1238182415	p.Arg72Gln	missense variant	-	NC_000011.10:g.2885275C>T	gnomAD
RCV000465999	p.Gly73Asp	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885272C>T	ClinVar
rs1197451349	p.Gly73Ser	missense variant	-	NC_000011.10:g.2885273C>T	gnomAD
rs1060500179	p.Gly73Asp	missense variant	-	NC_000011.10:g.2885272C>T	gnomAD
rs1224283171	p.Gly75Arg	missense variant	-	NC_000011.10:g.2885267C>T	gnomAD
RCV000547901	p.Gly75Arg	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885267C>T	ClinVar
RCV000628559	p.Arg76Cys	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885264G>A	ClinVar
rs1312652368	p.Arg76Leu	missense variant	-	NC_000011.10:g.2885263C>A	gnomAD
rs750526402	p.Arg76Cys	missense variant	-	NC_000011.10:g.2885264G>A	ExAC,TOPMed,gnomAD
RCV000688516	p.Arg76Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885263C>A	ClinVar
rs1244338457	p.Gln78His	missense variant	-	NC_000011.10:g.2885256C>A	gnomAD
rs1379762772	p.Trp79Ter	stop gained	-	NC_000011.10:g.2885254C>T	gnomAD
rs1475576590	p.Thr80Ile	missense variant	-	NC_000011.10:g.2885251G>A	TOPMed
rs1038466183	p.Glu81Gln	missense variant	-	NC_000011.10:g.2885249C>G	TOPMed
rs1446106642	p.Val82Met	missense variant	-	NC_000011.10:g.2885246C>T	gnomAD
rs1295465465	p.Ser84Arg	missense variant	-	NC_000011.10:g.2885238G>T	gnomAD
rs897964106	p.Ser86Trp	missense variant	-	NC_000011.10:g.2885233G>C	gnomAD
rs897964106	p.Ser86Leu	missense variant	-	NC_000011.10:g.2885233G>A	gnomAD
rs1161598406	p.Val87Met	missense variant	-	NC_000011.10:g.2885231C>T	gnomAD
RCV000528594	p.Ala89Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885225C>T	ClinVar
rs1177512372	p.Ala89Thr	missense variant	-	NC_000011.10:g.2885225C>T	TOPMed,gnomAD
rs1269049521	p.Phe90Ser	missense variant	-	NC_000011.10:g.2885221A>G	gnomAD
RCV000449560	p.Tyr91His	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885219A>G	ClinVar
rs1060499712	p.Tyr91His	missense variant	-	NC_000011.10:g.2885219A>G	-
rs762106424	p.Val95Met	missense variant	-	NC_000011.10:g.2885207C>T	ExAC,gnomAD
rs1220704341	p.Gln96Arg	missense variant	-	NC_000011.10:g.2885203T>C	gnomAD
rs1398439636	p.Gly98Glu	missense variant	-	NC_000011.10:g.2885197C>T	TOPMed
rs1356534188	p.Arg99Cys	missense variant	-	NC_000011.10:g.2885195G>A	TOPMed,gnomAD
rs1287328131	p.Arg99His	missense variant	-	NC_000011.10:g.2885194C>T	gnomAD
rs1303693319	p.Arg101Cys	missense variant	-	NC_000011.10:g.2885189G>A	gnomAD
rs774805080	p.Leu102Gln	missense variant	-	NC_000011.10:g.2885185A>T	ExAC,gnomAD
RCV000693618	p.Leu103Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885183G>C	ClinVar
rs1416112498	p.Leu103Val	missense variant	-	NC_000011.10:g.2885183G>C	TOPMed
RCV000009289	p.Leu104Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885179_2885180delinsC	ClinVar
rs1354077920	p.Ala105Ser	missense variant	-	NC_000011.10:g.2885177C>A	TOPMed
rs763525000	p.Arg107Gln	missense variant	-	NC_000011.10:g.2885170C>T	ExAC,gnomAD
rs1301124627	p.Arg107Trp	missense variant	-	NC_000011.10:g.2885171G>A	gnomAD
rs1176153874	p.Ala112Val	missense variant	-	NC_000011.10:g.2885155G>A	gnomAD
NCI-TCGA novel	p.Ala112Thr	missense variant	-	NC_000011.10:g.2885156C>T	NCI-TCGA
RCV000172989	p.Ala112Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885157dup	ClinVar
rs1378798027	p.Ala112Pro	missense variant	-	NC_000011.10:g.2885156C>G	gnomAD
RCV000628567	p.Ala114Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885149G>A	ClinVar
rs1486019596	p.Ala114Val	missense variant	-	NC_000011.10:g.2885149G>A	TOPMed
rs1197769841	p.Ser116Asn	missense variant	-	NC_000011.10:g.2885143C>T	TOPMed,gnomAD
rs1197769841	p.Ser116Ile	missense variant	-	NC_000011.10:g.2885143C>A	TOPMed,gnomAD
RCV000553814	p.Pro117Arg	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885140G>C	ClinVar
RCV000541194	p.Pro117Ser	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885141G>A	ClinVar
rs945890937	p.Pro117Arg	missense variant	-	NC_000011.10:g.2885140G>C	TOPMed,gnomAD
rs570636789	p.Pro117Ser	missense variant	-	NC_000011.10:g.2885141G>A	1000Genomes,ExAC,gnomAD
rs945890937	p.Pro117Gln	missense variant	-	NC_000011.10:g.2885140G>T	TOPMed,gnomAD
RCV000628546	p.Pro118Ala	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885138G>C	ClinVar
RCV000464222	p.Pro118Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885137G>A	ClinVar
rs771731330	p.Pro118Arg	missense variant	-	NC_000011.10:g.2885137G>C	ExAC,TOPMed,gnomAD
rs771731330	p.Pro118Leu	missense variant	-	NC_000011.10:g.2885137G>A	ExAC,TOPMed,gnomAD
rs772684721	p.Pro118Ala	missense variant	-	NC_000011.10:g.2885138G>C	ExAC,TOPMed,gnomAD
RCV000529970	p.Leu119Phe	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885135G>A	ClinVar
rs1323156745	p.Leu119Phe	missense variant	-	NC_000011.10:g.2885135G>A	TOPMed,gnomAD
rs1220263188	p.Glu120Lys	missense variant	-	NC_000011.10:g.2885132C>T	gnomAD
RCV000692989	p.Glu120Gln	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885132C>G	ClinVar
rs551863674	p.Ala122Thr	missense variant	-	NC_000011.10:g.2885126C>T	1000Genomes,TOPMed,gnomAD
rs1395949690	p.Ala123Ser	missense variant	-	NC_000011.10:g.2885123C>A	TOPMed
rs1395949690	p.Ala123Thr	missense variant	-	NC_000011.10:g.2885123C>T	TOPMed
RCV000706635	p.Ser125Tyr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885116G>T	ClinVar
rs1319558011	p.Ser125Pro	missense variant	-	NC_000011.10:g.2885117A>G	TOPMed
RCV000555220	p.Ser125Pro	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885117A>G	ClinVar
NCI-TCGA novel	p.Leu126Pro	missense variant	-	NC_000011.10:g.2885113A>G	NCI-TCGA
rs1302975990	p.Leu126Phe	missense variant	-	NC_000011.10:g.2885114G>A	gnomAD
RCV000628538	p.Leu129Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885101_2885108del	ClinVar
RCV000693640	p.Glu130Lys	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885102C>T	ClinVar
rs778772076	p.Glu130Asp	missense variant	-	NC_000011.10:g.2885100C>A	ExAC,gnomAD
rs1225742557	p.Glu131Gly	missense variant	-	NC_000011.10:g.2885098T>C	TOPMed
RCV000529122	p.Ala132Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885095G>A	ClinVar
rs1364155293	p.Ala132Val	missense variant	-	NC_000011.10:g.2885095G>A	gnomAD
rs1479013685	p.Ala132Thr	missense variant	-	NC_000011.10:g.2885096C>T	gnomAD
rs1192914687	p.Pro133Ser	missense variant	-	NC_000011.10:g.2885093G>A	gnomAD
rs1013695050	p.Glu134Gln	missense variant	-	NC_000011.10:g.2885090C>G	TOPMed,gnomAD
RCV000471932	p.Glu134Gln	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885090C>G	ClinVar
RCV000172990	p.Glu134Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885091dup	ClinVar
RCV000697489	p.Pro137Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885080G>A	ClinVar
rs1445830484	p.Pro137Leu	missense variant	-	NC_000011.10:g.2885080G>A	TOPMed,gnomAD
RCV000546289	p.Val139Ile	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885075C>T	ClinVar
rs1183623363	p.Val139Ile	missense variant	-	NC_000011.10:g.2885075C>T	TOPMed,gnomAD
rs896475967	p.Ala143Val	missense variant	-	NC_000011.10:g.2885062G>A	TOPMed,gnomAD
RCV000594212	p.Pro144Ter	frameshift	-	NC_000011.10:g.2885062del	ClinVar
rs1241880588	p.Ala145Pro	missense variant	-	NC_000011.10:g.2885057C>G	TOPMed,gnomAD
RCV000558836	p.Pro148Gln	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885047G>T	ClinVar
rs754671425	p.Pro148Gln	missense variant	-	NC_000011.10:g.2885047G>T	ExAC,gnomAD
RCV000467968	p.Pro149Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885044G>A	ClinVar
rs1060500175	p.Pro149Leu	missense variant	-	NC_000011.10:g.2885044G>A	-
RCV000172982	p.Pro150Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885045del	ClinVar
RCV000543063	p.Val151Ile	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885039C>T	ClinVar
rs753342439	p.Val151Ile	missense variant	-	NC_000011.10:g.2885039C>T	ExAC,gnomAD
rs1320293569	p.Pro158Leu	missense variant	-	NC_000011.10:g.2885017G>A	TOPMed
rs483352981	p.Pro158Ala	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885018G>C	UniProt,dbSNP
VAR_075204	p.Pro158Ala	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885018G>C	UniProt
rs483352981	p.Pro158Ala	missense variant	-	NC_000011.10:g.2885018G>C	-
RCV000689463	p.Ala159Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885015C>T	ClinVar
rs1237188823	p.Ala159Ser	missense variant	-	NC_000011.10:g.2885015C>A	TOPMed,gnomAD
rs1237188823	p.Ala159Pro	missense variant	-	NC_000011.10:g.2885015C>G	TOPMed,gnomAD
RCV000536339	p.Pro164Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884999G>A	ClinVar
rs1323691763	p.Pro164Ala	missense variant	-	NC_000011.10:g.2885000G>C	gnomAD
rs1315960524	p.Pro164Leu	missense variant	-	NC_000011.10:g.2884999G>A	TOPMed,gnomAD
RCV000458924	p.Val165Ile	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884997C>T	ClinVar
rs1191295512	p.Val165Ala	missense variant	-	NC_000011.10:g.2884996A>G	TOPMed
rs1060500172	p.Val165Ile	missense variant	-	NC_000011.10:g.2884997C>T	-
rs1419349248	p.Ala166Pro	missense variant	-	NC_000011.10:g.2884994C>G	TOPMed
rs1183329789	p.Ala166Val	missense variant	-	NC_000011.10:g.2884993G>A	TOPMed
rs1038604691	p.Ala167Pro	missense variant	-	NC_000011.10:g.2884991C>G	TOPMed
VAR_001404	p.Ala171_Ala174del	inframe_deletion	-	-	UniProt
rs1342240264	p.Pro172Ala	missense variant	-	NC_000011.10:g.2884976G>C	gnomAD
rs1309218520	p.Val175Ala	missense variant	-	NC_000011.10:g.2884966A>G	TOPMed
rs1554937984	p.Ala176Leu	missense variant	-	NC_000011.10:g.2884963_2884964delinsAG	-
RCV000628593	p.Ala176Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884963_2884964delinsAG	ClinVar
rs1383784539	p.Ala176Val	missense variant	-	NC_000011.10:g.2884963G>A	TOPMed,gnomAD
rs1312921087	p.Ala176Pro	missense variant	-	NC_000011.10:g.2884964C>G	TOPMed,gnomAD
RCV000464198	p.Val177Ile	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884961C>T	ClinVar
rs1060500174	p.Val177Phe	missense variant	-	NC_000011.10:g.2884961C>A	gnomAD
rs1288020047	p.Val177Ala	missense variant	-	NC_000011.10:g.2884960A>G	TOPMed,gnomAD
rs1060500174	p.Val177Ile	missense variant	-	NC_000011.10:g.2884961C>T	gnomAD
RCV000456909	p.Leu178Pro	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884957A>G	ClinVar
rs1060500177	p.Leu178Pro	missense variant	-	NC_000011.10:g.2884957A>G	TOPMed,gnomAD
RCV000628561	p.Pro180Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884951G>A	ClinVar
rs113374868	p.Pro180Leu	missense variant	-	NC_000011.10:g.2884951G>A	-
RCV000705163	p.Ala181Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884948G>A	ClinVar
rs1332953428	p.Ala181Val	missense variant	-	NC_000011.10:g.2884948G>A	gnomAD
VAR_001405	p.Ala181_Pro184del	inframe_deletion	-	-	UniProt
rs1465874610	p.Pro182Leu	missense variant	-	NC_000011.10:g.2884945G>A	gnomAD
rs1163195873	p.Ala183Val	missense variant	-	NC_000011.10:g.2884942G>A	TOPMed
rs1399078248	p.Pro184Ser	missense variant	-	NC_000011.10:g.2884940G>A	gnomAD
rs1050598447	p.Pro184Leu	missense variant	-	NC_000011.10:g.2884939G>A	TOPMed
RCV000686502	p.Pro186Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884933G>A	ClinVar
rs1167747239	p.Pro186Leu	missense variant	-	NC_000011.10:g.2884933G>A	gnomAD
rs1443539133	p.Ala187Val	missense variant	-	NC_000011.10:g.2884930G>A	TOPMed,gnomAD
rs1163798897	p.Ala187Ser	missense variant	-	NC_000011.10:g.2884931C>A	TOPMed,gnomAD
rs1370733962	p.Pro188Leu	missense variant	-	NC_000011.10:g.2884927G>A	TOPMed,gnomAD
rs1474613343	p.Pro188Ala	missense variant	-	NC_000011.10:g.2884928G>C	gnomAD
rs1188784737	p.Ala189Val	missense variant	-	NC_000011.10:g.2884924G>A	gnomAD
rs1444091895	p.Pro190Leu	missense variant	-	NC_000011.10:g.2884921G>A	TOPMed,gnomAD
RCV000457773	p.Ala191Ser	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884919C>A	ClinVar
rs1060500180	p.Ala191Ser	missense variant	-	NC_000011.10:g.2884919C>A	gnomAD
RCV000693644	p.Pro192Arg	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884915G>C	ClinVar
rs1377428359	p.Pro192Arg	missense variant	-	NC_000011.10:g.2884915G>C	TOPMed
rs1458423964	p.Pro194Leu	missense variant	-	NC_000011.10:g.2884909G>A	TOPMed,gnomAD
rs1261515352	p.Val195Ala	missense variant	-	NC_000011.10:g.2884906A>G	TOPMed,gnomAD
RCV000735112	p.Val195Ala	missense variant	-	NC_000011.10:g.2884906A>G	ClinVar
RCV000539515	p.Val195Ala	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884906A>G	ClinVar
rs1281835164	p.Ala196Pro	missense variant	-	NC_000011.10:g.2884904C>G	TOPMed
RCV000628534	p.Ala196Pro	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884904C>G	ClinVar
rs2583439	p.Pro198Leu	missense variant	-	NC_000011.10:g.2884897G>A	TOPMed
rs2583439	p.Pro198Arg	missense variant	-	NC_000011.10:g.2884897G>C	TOPMed
VAR_001406	p.Pro200_Ala203del	inframe_deletion	-	-	UniProt
rs1489659757	p.Ala201Val	missense variant	-	NC_000011.10:g.2884888G>A	gnomAD
RCV000681670	p.Ala203Ter	frameshift	-	NC_000011.10:g.2884883_2884884del	ClinVar
RCV000704183	p.Pro204Ala	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884880G>C	ClinVar
rs1345683292	p.Pro204Ser	missense variant	-	NC_000011.10:g.2884880G>A	TOPMed
rs1345683292	p.Pro204Ala	missense variant	-	NC_000011.10:g.2884880G>C	TOPMed
rs1305191870	p.Ala205Gly	missense variant	-	NC_000011.10:g.2884876G>C	TOPMed
rs1182342	p.Pro206Arg	missense variant	-	NC_000011.10:g.2884873G>C	TOPMed,gnomAD
VAR_001407	p.Pro206_Ala209del	inframe_deletion	-	-	UniProt
RCV000628537	p.Ala207Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884871C>T	ClinVar
rs1554937870	p.Ala207Thr	missense variant	-	NC_000011.10:g.2884871C>T	-
RCV000628550	p.Ala209Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884865C>T	ClinVar
RCV000686644	p.Ala209Gly	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884864G>C	ClinVar
rs750581456	p.Ala209Thr	missense variant	-	NC_000011.10:g.2884865C>T	ExAC,gnomAD
RCV000462042	p.Ala211Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884859C>T	ClinVar
RCV000172985	p.Ala211Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884859delinsTT	ClinVar
RCV000172984	p.Ala211Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884868_2884869insAGCGGGGCCGG	ClinVar
rs1060500178	p.Ala211Thr	missense variant	-	NC_000011.10:g.2884859C>T	TOPMed
RCV000172986	p.Pro212Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884858del	ClinVar
RCV000172983	p.Ala213Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884858_2884882dup	ClinVar
RCV000700299	p.Pro214Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884849G>A	ClinVar
RCV000172987	p.Pro214Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846_2884849delinsCCC	ClinVar
rs562237921	p.Pro214Thr	missense variant	-	NC_000011.10:g.2884850G>T	1000Genomes,TOPMed
rs562237921	p.Pro214Ser	missense variant	-	NC_000011.10:g.2884850G>A	1000Genomes,TOPMed
RCV000475530	p.Ala215Asp	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846G>T	ClinVar
rs1060500176	p.Ala215Asp	missense variant	-	NC_000011.10:g.2884846G>T	TOPMed
rs1450071551	p.Ala215Pro	missense variant	-	NC_000011.10:g.2884847C>G	TOPMed
rs1450071551	p.Ala215Thr	missense variant	-	NC_000011.10:g.2884847C>T	TOPMed
RCV000685583	p.Pro216Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846del	ClinVar
rs751669088	p.Asp217Glu	missense variant	-	NC_000011.10:g.2884839G>C	ExAC,gnomAD
rs3741342	p.Asp217Val	missense variant	-	NC_000011.10:g.2884840T>A	TOPMed
RCV000687878	p.Ala218Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884837G>A	ClinVar
rs763289302	p.Pro220Leu	missense variant	-	NC_000011.10:g.2884831G>A	ExAC,gnomAD
rs1329147434	p.Pro220Thr	missense variant	-	NC_000011.10:g.2884832G>T	TOPMed
rs1229546713	p.Gln221Ter	stop gained	-	NC_000011.10:g.2884829G>A	gnomAD
rs775889163	p.Glu222Gln	missense variant	-	NC_000011.10:g.2884826C>G	ExAC,TOPMed
RCV000462429	p.Ala224Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884820C>T	ClinVar
rs528634940	p.Ala224Thr	missense variant	-	NC_000011.10:g.2884820C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000693066	p.Glu225Ter	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884817C>A	ClinVar
RCV000474244	p.Gln226Glu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884814G>C	ClinVar
rs483352987	p.Gln226Ter	stop gained	-	NC_000011.10:g.2884814G>A	ExAC,gnomAD
rs1424651848	p.Gln226Pro	missense variant	-	NC_000011.10:g.2884813T>G	gnomAD
rs483352987	p.Gln226Glu	missense variant	-	NC_000011.10:g.2884814G>C	ExAC,gnomAD
rs771502215	p.Gly227Cys	missense variant	-	NC_000011.10:g.2884811C>A	ExAC,gnomAD
rs1180635221	p.Gly227Val	missense variant	-	NC_000011.10:g.2884810C>A	gnomAD
RCV000593457	p.Gln230Ter	frameshift	-	NC_000011.10:g.2884801del	ClinVar
RCV000693814	p.Gly231Arg	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884799C>T	ClinVar
rs1179846540	p.Gly231Glu	missense variant	-	NC_000011.10:g.2884798C>T	gnomAD
RCV000192927	p.Gln232Ter	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884796G>A	ClinVar
rs1295497799	p.Gln232His	missense variant	-	NC_000011.10:g.2884794C>G	TOPMed
rs797045445	p.Gln232Ter	stop gained	-	NC_000011.10:g.2884796G>A	-
RCV000543609	p.Arg233Gln	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884791_2884792delinsCT	ClinVar
rs564726941	p.Arg233His	missense variant	-	NC_000011.10:g.2884792C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs773932111	p.Arg233Cys	missense variant	-	NC_000011.10:g.2884793G>A	ExAC,TOPMed,gnomAD
rs564726941	p.Arg233Pro	missense variant	-	NC_000011.10:g.2884792C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs773932111	p.Arg233Gly	missense variant	-	NC_000011.10:g.2884793G>C	ExAC,TOPMed,gnomAD
rs1554937778	p.Arg233Gln	missense variant	-	NC_000011.10:g.2884791_2884792delinsCT	-
rs1203065343	p.Gly234Val	missense variant	-	NC_000011.10:g.2884789C>A	TOPMed
RCV000695961	p.Glu236Ter	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884784C>A	ClinVar
RCV000560692	p.Pro237Ser	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884781G>A	ClinVar
rs1240280374	p.Pro237Ser	missense variant	-	NC_000011.10:g.2884781G>A	TOPMed,gnomAD
rs878853640	p.Leu238Phe	missense variant	-	NC_000011.10:g.2884778G>A	TOPMed
RCV000227356	p.Leu238Phe	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884778G>A	ClinVar
rs781428134	p.Ala239Ser	missense variant	-	NC_000011.10:g.2884775C>A	ExAC,gnomAD
RCV000459988	p.Gly245Arg	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884757C>T	ClinVar
rs1060500181	p.Gly245Arg	missense variant	-	NC_000011.10:g.2884757C>T	-
RCV000009290	p.Ser247Ter	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884750G>T	ClinVar
rs104894200	p.Ser247Ter	stop gained	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2884750G>T	-
RCV000476304	p.Ser247Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884750G>A	ClinVar
rs104894200	p.Ser247Leu	missense variant	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2884750G>A	-
RCV000698846	p.Gly248Arg	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884748C>T	ClinVar
RCV000232898	p.Arg249Cys	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884745G>A	ClinVar
rs878853641	p.Arg249Cys	missense variant	-	NC_000011.10:g.2884745G>A	TOPMed,gnomAD
rs753022994	p.Pro250His	missense variant	-	NC_000011.10:g.2884741G>T	ExAC,gnomAD
rs753022994	p.Pro250Leu	missense variant	-	NC_000011.10:g.2884741G>A	ExAC,gnomAD
RCV000549523	p.Ala251Ter	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884727_2884738delinsGCAC	ClinVar
rs765542916	p.Ala251Val	missense variant	-	NC_000011.10:g.2884738G>A	ExAC,TOPMed,gnomAD
rs1462025809	p.Gly253Ser	missense variant	-	NC_000011.10:g.2884733C>T	TOPMed,gnomAD
rs1462025809	p.Gly253Arg	missense variant	-	NC_000011.10:g.2884733C>G	TOPMed,gnomAD
rs1247486281	p.Thr254Ile	missense variant	-	NC_000011.10:g.2884729G>A	gnomAD
RCV000527953	p.Ala255Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884727C>T	ClinVar
rs760038657	p.Ala255Thr	missense variant	-	NC_000011.10:g.2884727C>T	ExAC,gnomAD
rs1265275989	p.Ala256Val	missense variant	-	NC_000011.10:g.2884723G>A	gnomAD
RCV000535977	p.Ala257Ser	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884721C>A	ClinVar
RCV000227798	p.Ala257Gly	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884720G>C	ClinVar
rs878853642	p.Ala257Gly	missense variant	-	NC_000011.10:g.2884720G>C	TOPMed,gnomAD
rs754283907	p.Ala257Ser	missense variant	-	NC_000011.10:g.2884721C>A	ExAC,TOPMed,gnomAD
rs766858608	p.Ser258Asn	missense variant	-	NC_000011.10:g.2884717C>T	ExAC,gnomAD
rs773881541	p.Ala259Ser	missense variant	-	NC_000011.10:g.2884715C>A	ExAC,TOPMed,gnomAD
rs1282204263	p.Asn260Ser	missense variant	-	NC_000011.10:g.2884711T>C	TOPMed,gnomAD
rs768242627	p.Gly261Ser	missense variant	-	NC_000011.10:g.2884709C>T	ExAC,gnomAD
RCV000705133	p.Ala262Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884706C>T	ClinVar
rs1300586071	p.Ala262Thr	missense variant	-	NC_000011.10:g.2884706C>T	gnomAD
rs1254038235	p.Leu267Pro	missense variant	-	NC_000011.10:g.2884690A>G	TOPMed
RCV000628552	p.Ser268Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884688A>T	ClinVar
rs781340171	p.Ser268Thr	missense variant	-	NC_000011.10:g.2884688A>T	ExAC,TOPMed,gnomAD
rs1275242295	p.Gly269Arg	missense variant	-	NC_000011.10:g.2884685C>G	TOPMed,gnomAD
rs1416211722	p.Pro270Thr	missense variant	-	NC_000011.10:g.2884682G>T	gnomAD
rs1416211722	p.Pro270Ser	missense variant	-	NC_000011.10:g.2884682G>A	gnomAD
RCV000524779	p.Pro270Thr	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884682G>T	ClinVar
RCV000119018	p.Ile272Ser	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884675A>C	ClinVar
rs515726203	p.Ile272Ser	missense variant	-	NC_000011.10:g.2884675A>C	-
RCV000690404	p.Ser273Cys	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884672G>C	ClinVar
RCV000029186	p.Asp274Asn	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	ClinVar
rs387907225	p.Asp274Asn	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	UniProt,dbSNP
VAR_068848	p.Asp274Asn	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	UniProt
rs387907225	p.Asp274Asn	missense variant	-	NC_000011.10:g.2884670C>T	-
RCV000029184	p.Phe276Ser	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	ClinVar
rs387907223	p.Phe276Val	missense variant	-	NC_000011.10:g.2884129A>C	-
rs387907223	p.Phe276Val	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884129A>C	UniProt,dbSNP
VAR_068850	p.Phe276Val	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884129A>C	UniProt
rs387907224	p.Phe276Ser	missense variant	-	NC_000011.10:g.2884128A>G	-
rs387907224	p.Phe276Ser	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	UniProt,dbSNP
VAR_068849	p.Phe276Ser	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	UniProt
rs759474789	p.Ala277Thr	missense variant	-	NC_000011.10:g.2884126C>T	ExAC,TOPMed,gnomAD
rs1307229121	p.Ala277Val	missense variant	-	NC_000011.10:g.2884125G>A	gnomAD
rs387907226	p.Lys278Glu	missense variant	-	NC_000011.10:g.2884123T>C	-
rs387907226	p.Lys278Glu	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884123T>C	UniProt,dbSNP
VAR_068851	p.Lys278Glu	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884123T>C	UniProt
RCV000172991	p.Arg279Leu	missense variant	Russell-Silver syndrome (SRS)	NC_000011.10:g.2884119C>A	ClinVar
RCV000029185	p.Arg279Pro	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	ClinVar
rs318240750	p.Arg279Pro	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	UniProt,dbSNP
VAR_068852	p.Arg279Pro	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	UniProt
rs1271519927	p.Lys280Arg	missense variant	-	NC_000011.10:g.2884116T>C	gnomAD
RCV000240658	p.Arg281Ile	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884113C>A	ClinVar
rs886037912	p.Arg281Ile	missense variant	-	NC_000011.10:g.2884113C>A	-
RCV000009292	p.Ser282Ter	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884110G>T	ClinVar
RCV000521869	p.Ser282Ter	missense variant	-	NC_000011.10:g.2884110G>C	ClinVar
RCV000763732	p.Ala283Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884107G>A	ClinVar
RCV000538679	p.Ala283Val	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884107G>A	ClinVar
rs1377763757	p.Ala283Pro	missense variant	-	NC_000011.10:g.2884108C>G	TOPMed
rs776541692	p.Ala283Val	missense variant	-	NC_000011.10:g.2884107G>A	ExAC,gnomAD
rs1384167261	p.Pro284Ser	missense variant	-	NC_000011.10:g.2884105G>A	gnomAD
RCV000628540	p.Ser287Leu	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884095G>A	ClinVar
rs928007699	p.Ser287Leu	missense variant	-	NC_000011.10:g.2884095G>A	TOPMed,gnomAD
rs1391074477	p.Gly289Ser	missense variant	-	NC_000011.10:g.2884090C>T	TOPMed
rs1352481541	p.Asp290Asn	missense variant	-	NC_000011.10:g.2884087C>T	gnomAD
rs1166638899	p.Val291Ile	missense variant	-	NC_000011.10:g.2884084C>T	TOPMed,gnomAD
rs1317648965	p.Pro292Leu	missense variant	-	NC_000011.10:g.2884080G>A	TOPMed
rs1384507877	p.Ala293Val	missense variant	-	NC_000011.10:g.2884077G>A	gnomAD
rs772130948	p.Cys295Ser	missense variant	-	NC_000011.10:g.2884072A>T	ExAC,gnomAD
rs531059713	p.Pro296Ala	missense variant	-	NC_000011.10:g.2884069G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs531059713	p.Pro296Ser	missense variant	-	NC_000011.10:g.2884069G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs868414645	p.Pro298Gln	missense variant	-	NC_000011.10:g.2884062G>T	gnomAD
rs868414645	p.Pro298Leu	missense variant	-	NC_000011.10:g.2884062G>A	gnomAD
rs755160554	p.Ala300Ser	missense variant	-	NC_000011.10:g.2884057C>A	ExAC,TOPMed,gnomAD
rs749702191	p.Ala301Ser	missense variant	-	NC_000011.10:g.2884054C>A	ExAC,gnomAD
rs749702191	p.Ala301Thr	missense variant	-	NC_000011.10:g.2884054C>T	ExAC,gnomAD
rs1243902953	p.Gly303Val	missense variant	-	NC_000011.10:g.2884047C>A	gnomAD
rs1243902953	p.Gly303Asp	missense variant	-	NC_000011.10:g.2884047C>T	gnomAD
rs962524119	p.Gly305Val	missense variant	-	NC_000011.10:g.2884041C>A	TOPMed,gnomAD
rs962524119	p.Gly305Asp	missense variant	-	NC_000011.10:g.2884041C>T	TOPMed,gnomAD
rs750876855	p.Ser306Leu	missense variant	-	NC_000011.10:g.2884038G>A	ExAC,gnomAD
rs750876855	p.Ser306Trp	missense variant	-	NC_000011.10:g.2884038G>C	ExAC,gnomAD
rs1267363722	p.Gln309His	missense variant	-	NC_000011.10:g.2884028C>G	TOPMed
rs1161543117	p.Arg312Pro	missense variant	-	NC_000011.10:g.2884020C>G	gnomAD
rs1015057194	p.Arg314Lys	missense variant	-	NC_000011.10:g.2884014C>T	TOPMed
rs1015057194	p.Arg314Met	missense variant	-	NC_000011.10:g.2884014C>A	TOPMed
NCI-TCGA novel	p.Arg316Trp	missense variant	-	NC_000011.10:g.2884009G>A	NCI-TCGA
rs318240750	p.Arg279Pro	missense variant	-	NC_000011.10:g.2884119C>G	-
rs267606716	p.Ser282Ter	stop gained	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2884110G>C	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0000846	Agenesis	disease	BEFREE
C0001418	Adenocarcinoma	group	CTD_human
C0001430	Adenoma	group	BEFREE
C0001618	Tumors of Adrenal Cortex	group	BEFREE
C0001623	Adrenal gland hypofunction	phenotype	BEFREE
C0001624	Adrenal Gland Neoplasms	group	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0004096	Asthma	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE;LHGDN
C0004903	Beckwith-Wiedemann Syndrome	disease	BEFREE;CLINVAR;CTD_human;LHGDN;UNIPROT
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0005699	Blast Phase	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007113	Rectal Carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0008497	Choriocarcinoma	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010417	Cryptorchidism	disease	HPO
C0010964	Dandy-Walker Syndrome	disease	HPO
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013080	Down Syndrome	disease	BEFREE
C0013264	Muscular Dystrophy, Duchenne	disease	BEFREE
C0013336	Dwarfism	disease	BEFREE
C0013537	Eclampsia	disease	BEFREE
C0014170	Endometrial Neoplasms	group	CTD_human
C0014173	Endometrial Hyperplasia	disease	CTD_human
C0014859	Esophageal Neoplasms	group	BEFREE;LHGDN
C0015300	Exophthalmos	disease	HPO
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017636	Glioblastoma	disease	BEFREE;LHGDN
C0017638	Glioma	disease	BEFREE
C0017661	IGA Glomerulonephritis	disease	BEFREE
C0018800	Cardiomegaly	phenotype	HPO
C0019209	Hepatomegaly	phenotype	HPO
C0020217	Hydatidiform Mole	disease	BEFREE
C0020255	Hydrocephalus	disease	BEFREE
C0020295	Hydronephrosis	disease	HPO
C0020437	Hypercalcemia	disease	HPO
C0020438	Hypercalciuria	phenotype	HPO
C0020459	Hyperinsulinism	disease	BEFREE
C0020619	Hypogonadism	disease	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0021670	insulinoma	disease	BEFREE
C0022658	Kidney Diseases	group	BEFREE
C0023418	leukemia	disease	BEFREE;LHGDN
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023492	Leukemia, T-Cell	disease	BEFREE
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024121	Lung Neoplasms	group	CTD_human
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024301	Lymphoma, Follicular	disease	BEFREE
C0024421	Macroglossia	disease	BEFREE;HPO
C0025202	melanoma	disease	BEFREE;CTD_human
C0025500	Mesothelioma	disease	LHGDN
C0025995	Micromelia	disease	HPO
C0026769	Multiple Sclerosis	disease	BEFREE
C0026827	Muscle hypotonia	phenotype	HPO
C0027051	Myocardial Infarction	disease	BEFREE;LHGDN
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027708	Nephroblastoma	disease	BEFREE;HPO
C0027709	Nephrocalcinosis	disease	HPO
C0027819	Neuroblastoma	group	BEFREE
C0027960	Nevus	disease	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0032897	Prader-Willi Syndrome	disease	BEFREE
C0033806	Pseudohypoparathyroidism	disease	BEFREE
C0034885	Rectal Neoplasms	group	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036875	Disorders of Sex Development	group	GENOMICS_ENGLAND
C0040034	Thrombocytopenia	phenotype	BEFREE
C0040136	Thyroid Neoplasm	disease	LHGDN
C0042580	Vesico-Ureteral Reflux	disease	HPO
C0079731	B-Cell Lymphomas	group	BEFREE
C0079744	Diffuse Large B-Cell Lymphoma	disease	BEFREE
C0079747	Low Grade Lymphoma (neoplasm)	disease	BEFREE
C0079773	Lymphoma, T-Cell, Cutaneous	disease	BEFREE
C0151546	Oral Cavity Carcinoma	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0158986	Neonatal hypoglycemia	disease	HPO
C0162739	HELLP Syndrome	disease	BEFREE
C0175693	Russell-Silver syndrome	disease	BEFREE;CLINVAR;GENOMICS_ENGLAND;ORPHANET
C0175702	Williams Syndrome	disease	BEFREE
C0178664	Glomerulosclerosis (disorder)	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0205641	Adenocarcinoma, Basal Cell	disease	CTD_human
C0205642	Adenocarcinoma, Oxyphilic	disease	CTD_human
C0205643	Carcinoma, Cribriform	disease	CTD_human
C0205644	Carcinoma, Granular Cell	disease	CTD_human
C0205645	Adenocarcinoma, Tubular	disease	CTD_human
C0206624	Hepatoblastoma	disease	BEFREE;HPO
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE
C0206661	Gonadoblastoma	disease	HPO
C0206667	Adrenal Cortical Adenoma	disease	BEFREE
C0206686	Adrenocortical carcinoma	disease	BEFREE;HPO
C0206743	Rhabdoid Tumor	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221766	Diastasis recti	phenotype	HPO
C0235752	Port-Wine Stain	disease	BEFREE;HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238577	Abdominal wall defect	group	BEFREE
C0239234	Low set ears	phenotype	HPO
C0241355	Small testicle	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE;CTD_human
C0242596	Neoplasm, Residual	phenotype	BEFREE
C0242647	Mucosa-Associated Lymphoid Tissue Lymphoma	disease	BEFREE;LHGDN
C0265294	Pyle metaphyseal dysplasia	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266589	Congenital ear anomaly NOS (disorder)	group	BEFREE
C0268731	Renal glomerular disease	group	BEFREE
C0332890	Congenital hemihypertrophy	disease	BEFREE;HPO
C0333693	Triploidy syndrome	disease	BEFREE
C0334529	Hydatidiform Mole, Partial	disease	BEFREE
C0342273	Transient neonatal diabetes mellitus	disease	BEFREE
C0342482	X-linked Adrenal Hypoplasia	disease	GENOMICS_ENGLAND
C0342491	Small adrenal gland	phenotype	HPO
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349557	Gestational choriocarcinoma	disease	BEFREE
C0349578	Complex Endometrial Hyperplasia	disease	CTD_human
C0349579	Atypical Endometrial Hyperplasia	disease	CTD_human
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0392476	Epiphyseal dysplasia	disease	HPO
C0392525	Nephrolithiasis	disease	HPO
C0405580	Adrenal cortical hypofunction	disease	BEFREE
C0426414	Small nose	phenotype	HPO
C0456132	Large fontanelle	phenotype	HPO
C0456483	Simple Endometrial Hyperplasia	disease	CTD_human
C0476089	Endometrial Carcinoma	disease	CTD_human
C0541764	Delayed bone age	phenotype	HPO
C0542518	Enlarged kidney	phenotype	HPO
C0545053	Advanced bone age	phenotype	HPO
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0555198	Malignant Glioma	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678213	Complete hydatidiform mole	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0751606	Adult Acute Lymphocytic Leukemia	disease	BEFREE
C0795690	Congenital omphalocele	disease	BEFREE;HPO
C0796154	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	disease	BEFREE
C0796160	MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	disease	BEFREE
C0848558	Hypospadias	group	HPO
C0850666	Infection caused by Helicobacter pylori	disease	BEFREE
C0878544	Cardiomyopathies	group	HPO
C0919267	ovarian neoplasm	disease	BEFREE;LHGDN
C1135868	Gestational Trophoblastic Neoplasms	group	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1261473	Sarcoma	group	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306503	Congenital exomphalos	disease	BEFREE
C1384514	Conn Syndrome	disease	BEFREE
C1386048	Intrauterine retardation	phenotype	HPO
C1395512	Placental dysfunction	disease	BEFREE
C1456781	Benign melanocytic nevus	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1527249	Colorectal Cancer	disease	BEFREE
C1691215	Penile hypospadias	disease	HPO
C1832386	Diabetes Mellitus, Transient Neonatal, 1	disease	BEFREE
C1834167	Asymmetric overgrowth	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1837260	Prominent forehead	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1841972	Glucocorticoid Receptor Deficiency	disease	BEFREE
C1845847	Coarse facial features	phenotype	HPO
C1846009	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1846223	Adrenal hypoplasia	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1849075	Relative macrocephaly	disease	BEFREE
C1849265	Overgrowth	phenotype	HPO
C1851719	BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION	phenotype	UNIPROT
C1851720	Adrenocortical cytomegaly	phenotype	HPO
C1851722	Overgrowth of external genitalia	phenotype	HPO
C1851731	Generalized overgrowth	phenotype	HPO
C1851733	Pancreatic hyperplasia	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853737	Prominent occiput	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1854442	SPLIT-HAND/FOOT MALFORMATION 4	disease	BEFREE
C1856184	HEMIHYPERPLASIA, ISOLATED	disease	BEFREE
C1857949	Prominent metopic ridge	phenotype	HPO
C1859778	Postnatal growth retardation	phenotype	HPO
C1859977	Adrenal Hypoplasia, Cytomegalic Type	disease	CTD_human
C1861305	TARSAL-CARPAL COALITION SYNDROME	disease	BEFREE
C1862425	Prominent globes	phenotype	HPO
C1864903	Hyperinsulinemic hypoglycemia	disease	BEFREE
C1867446	Bulging forehead	phenotype	HPO
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE
C1969144	Renal cortical cysts	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2931618	Gestational trophoblastic disease	disease	BEFREE
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C2986703	Overgrowth Syndrome	disease	BEFREE
C3150281	Fetal overgrowth	phenotype	HPO
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3463897	HYDATIDIFORM MOLE, RECURRENT, 1	disease	BEFREE
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3714796	Isolated somatotropin deficiency	disease	HPO
C3887743	WILMS TUMOR 2	disease	BEFREE
C4021539	Posterior helix pit	phenotype	HPO
C4025708	Cerebellar malformation	phenotype	BEFREE
C4072820	Large bregma sutures	phenotype	HPO
C4072821	Large, late-closing fontanelle	phenotype	HPO
C4072822	Wide bregma sutures	phenotype	HPO
C4072825	Thickened facial skin with coarse facial features	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280566	Abnormal development of end part of bone	phenotype	HPO
C4280652	Prominent back of the head	phenotype	HPO
C4280679	Increased calcium level in kidney	phenotype	HPO
C4528747	Recurrent Atypical Teratoid/Rhabdoid Tumor	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004860	protein kinase inhibitor activity	IMP
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA
GO:0005515	protein binding	IPI
GO:0044877	protein-containing complex binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007050	cell cycle arrest	IEA
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IMP
GO:0033673	negative regulation of kinase activity	IDA
GO:0042326	negative regulation of phosphorylation	IDA
GO:0042326	negative regulation of phosphorylation	IBA
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IBA
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IGI
GO:0045930	negative regulation of mitotic cell cycle	IBA
GO:0050680	negative regulation of epithelial cell proliferation	IMP
GO:1904030	negative regulation of cyclin-dependent protein kinase activity	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1640170	Cell Cycle	TAS
R-HSA-453279	Mitotic G1 phase and G1/S transition	TAS
R-HSA-69231	Cyclin D associated events in G1	TAS
R-HSA-69236	G1 Phase	TAS
R-HSA-69278	Cell Cycle, Mitotic	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in increased expression of CDKN1C mRNA	29038090
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of CDKN1C mRNA	28628672
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 CDKN1C mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of CDKN1C mRNA	28801915
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of CDKN1C mRNA	21346803
C006593	2-anthramine	2-anthramine results in increased expression of CDKN1C mRNA	23038007
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of CDKN1C mRNA	16788091
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of CDKN1C mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with 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 CDKN1C mRNA	27188386
C517041	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) results in increased expression of CDKN1C mRNA	19561079
C013813	4-anisidine	4-anisidine results in increased expression of CDKN1C mRNA	12929121
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in decreased expression of CDKN1C mRNA	12419474
C041594	4-nonylphenol	4-nonylphenol results in increased expression of CDKN1C protein	26027920
C002202	4-oxoretinoic acid	4-oxoretinoic acid results in increased expression of CDKN1C mRNA	15982314
C121707	7,3'-dihydroxy-4'-methoxyisoflavone	7,3'-dihydroxy-4'-methoxyisoflavone results in decreased expression of CDKN1C mRNA	24455688
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of CDKN1C mRNA	20018196
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of CDKN1C mRNA	19150397
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of CDKN1C mRNA	22485181
D000082	Acetaminophen	Acetaminophen affects the expression of CDKN1C mRNA	25064622
D000082	Acetaminophen	Acetaminophen affects the expression of CDKN1C mRNA	25458485
D000082	Acetaminophen	Acetaminophen results in increased expression of CDKN1C mRNA	21420995
D020106	Acrylamide	Acrylamide results in decreased expression of CDKN1C mRNA	21319176
D020106	Acrylamide	Acrylamide results in decreased expression of CDKN1C mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of CDKN1C mRNA	23630614; 25378103;
C000593263	afuresertib	afuresertib results in increased expression of CDKN1C mRNA	28960945
D000077556	Alitretinoin	Alitretinoin results in decreased expression of CDKN1C mRNA	15982314
D000638	Amiodarone	Amiodarone affects the expression of CDKN1C mRNA	25064622
D000643	Ammonium Chloride	Ammonium Chloride results in decreased expression of CDKN1C protein	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of CDKN1C mRNA	24449571
D001149	Arsenates	[Atrazine co-treated with Arsenates] results in increased expression of CDKN1C mRNA	18585445
D001151	Arsenic	Arsenic affects the methylation of CDKN1C gene	25304211
C015001	arsenite	arsenite results in decreased expression of CDKN1C mRNA	18191166
D017636	Asbestos, Amphibole	Asbestos, Amphibole results in decreased expression of CDKN1C mRNA	20831825
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of CDKN1C mRNA	25351596
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in decreased expression of CDKN1C mRNA	29523930
D001280	Atrazine	[Atrazine co-treated with Arsenates] results in increased expression of CDKN1C mRNA	18585445
D001280	Atrazine	Atrazine results in increased expression of CDKN1C mRNA	22378314
D001280	Atrazine	Atrazine results in decreased expression of CDKN1C mRNA	26331294
D001374	Azacitidine	Azacitidine results in increased expression of CDKN1C mRNA	19194470
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of CDKN1C mRNA	29950665
D001554	Benzene	Benzene results in increased expression of CDKN1C mRNA	15050406
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CDKN1C mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of CDKN1C mRNA	21839799
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of CDKN1C mRNA	26377693
D001599	Berberine	Berberine results in increased expression of CDKN1C mRNA	26478571
C006780	bisphenol A	bisphenol A results in increased expression of CDKN1C protein	26027920
C006780	bisphenol A	bisphenol A results in increased methylation of CDKN1C gene	28582417
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of CDKN1C mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of CDKN1C mRNA	23593014
C006780	bisphenol A	bisphenol A affects the expression of CDKN1C mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of CDKN1C mRNA	24988533; 30816183;
C006780	bisphenol A	bisphenol A results in increased expression of CDKN1C mRNA	18180321
D002083	Butylated Hydroxyanisole	[propylparaben co-treated with Butylated Hydroxyanisole] results in increased expression of CDKN1C mRNA	25086368
C018475	butyraldehyde	butyraldehyde results in increased expression of CDKN1C mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in decreased methylation of CDKN1C promoter	28823913
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of CDKN1C mRNA	28823913
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of CDKN1C protein	28823913
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of CDKN1C mRNA	31150632
D002330	Carmustine	CDKN1C mRNA affects the susceptibility to Carmustine	16365179
D002737	Chloroprene	Chloroprene results in increased expression of CDKN1C mRNA	23125180
D002746	Chlorpromazine	Chlorpromazine affects the expression of CDKN1C mRNA	25064622
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of CDKN1C mRNA	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of CDKN1C mRNA	27392435
D003300	Copper	[Disulfiram binds to Copper] which results in decreased expression of CDKN1C mRNA	24690739
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of CDKN1C mRNA	20971185
D003300	Copper	[Thiosemicarbazones binds to Copper] which results in increased expression of CDKN1C protein	20931265
D019327	Copper Sulfate	Copper Sulfate affects the expression of CDKN1C mRNA	19549813
D003375	Coumestrol	Coumestrol results in decreased expression of CDKN1C mRNA	19167446
D003471	Cuprizone	Cuprizone results in increased expression of CDKN1C mRNA	26577399
D003520	Cyclophosphamide	Cyclophosphamide results in increased expression of CDKN1C mRNA	21041162
D016572	Cyclosporine	Cyclosporine affects the expression of CDKN1C mRNA	25064622
D016572	Cyclosporine	Cyclosporine results in decreased expression of CDKN1C mRNA	27989131
D003561	Cytarabine	Cytarabine results in decreased expression of CDKN1C mRNA	21198554
D000077209	Decitabine	Decitabine affects the expression of CDKN1C mRNA	17145863
D000077209	Decitabine	[Decitabine affects the methylation of CDKN1C promoter] which affects the expression of CDKN1C mRNA	18454857; 18454857;
D000077209	Decitabine	Decitabine results in increased expression of CDKN1C mRNA	19194470
D000077209	Decitabine	[Vorinostat co-treated with Decitabine] results in increased expression of CDKN1C mRNA	17417771
D003907	Dexamethasone	Dexamethasone results in increased expression of CDKN1C mRNA	22064387
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of CDKN1C mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of CDKN1C mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in increased expression of CDKN1C mRNA	21041162
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of CDKN1C mRNA	29950665
D003976	Diazinon	Diazinon results in increased methylation of CDKN1C gene	22964155
D003976	Diazinon	Diazinon affects the expression of CDKN1C mRNA	22546817
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of CDKN1C mRNA	17379624; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of CDKN1C mRNA	21745491
D004026	Dieldrin	Dieldrin affects the expression of CDKN1C mRNA	22546817
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of CDKN1C mRNA	31163220
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of CDKN1C mRNA	17854601
D004052	Diethylnitrosamine	RB1 protein inhibits the reaction [Diethylnitrosamine results in increased expression of CDKN1C mRNA]	17854601
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of CDKN1C mRNA	15766595
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of CDKN1C mRNA	21041162
D004137	Dinitrochlorobenzene	Dinitrochlorobenzene results in increased expression of CDKN1C mRNA	20146380
D004137	Dinitrochlorobenzene	Dinitrochlorobenzene results in decreased expression of CDKN1C mRNA	21404309
C051904	dinophysistoxin 1	dinophysistoxin 1 results in increased expression of CDKN1C mRNA	21853993; 28939011;
D004221	Disulfiram	[Disulfiram binds to Copper] which results in decreased expression of CDKN1C mRNA	24690739
D004237	Diuron	Diuron results in increased expression of CDKN1C mRNA	21551480
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 CDKN1C mRNA	27188386
D004317	Doxorubicin	Doxorubicin affects the expression of CDKN1C mRNA	29803840
D004642	Emodin	Emodin results in increased expression of CDKN1C mRNA	21319176
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of CDKN1C mRNA	22064387
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of CDKN1C mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of CDKN1C mRNA	22064387; 23019147; 25321415;
D004958	Estradiol	Estradiol results in increased expression of CDKN1C mRNA	23094148
D004958	Estradiol	Estradiol affects the expression of CDKN1C mRNA	15598610
D000431	Ethanol	Ethanol results in increased expression of CDKN1C mRNA	19167417
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of CDKN1C mRNA	25064622
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of CDKN1C mRNA	17557909
C540355	fenamidone	fenamidone results in increased expression of CDKN1C mRNA	27029645
D005472	Fluorouracil	CDKN1C affects the susceptibility to Fluorouracil	15067352
D005472	Fluorouracil	Fluorouracil results in increased expression of CDKN1C mRNA	19272435
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of CDKN1C mRNA	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of CDKN1C mRNA	17938736
D019833	Genistein	Genistein results in decreased expression of CDKN1C mRNA	23019147
D019833	Genistein	Genistein results in increased expression of CDKN1C mRNA	22228119
C004312	glycidol	glycidol results in decreased expression of CDKN1C mRNA	24395379
C103280	goniothalamin	goniothalamin results in increased expression of CDKN1C mRNA	26522230
D006247	Harmine	Harmine results in decreased expression of CDKN1C mRNA	25751815
D006247	Harmine	Harmine results in decreased expression of CDKN1C protein	25751815
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of CDKN1C mRNA	20044591; 21179406;
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of CDKN1C protein	21179406
C031927	hydroquinone	hydroquinone results in decreased expression of CDKN1C mRNA	31256213
D006918	Hydroxyurea	Hydroxyurea results in increased expression of CDKN1C mRNA	12929121
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of CDKN1C mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of CDKN1C mRNA	28628672
D007501	Iron	Iron deficiency results in decreased expression of CDKN1C mRNA	16629162
C040920	isoliquiritigenin	isoliquiritigenin results in decreased expression of CDKN1C mRNA	27702603
D015474	Isotretinoin	Isotretinoin results in decreased expression of CDKN1C mRNA	15982314
C544151	jinfukang	jinfukang results in increased expression of CDKN1C mRNA	27392435
C561695	(+)-JQ1 compound	CDKN1C mutant form inhibits the reaction [[(+)-JQ1 compound co-treated with Vorinostat] results in increased cleavage of PARP1 protein]	26390243
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of CDKN1C mRNA	23086925
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of CDKN1C mRNA	25277525; 26752646;
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of CDKN1C protein	25277525
C561695	(+)-JQ1 compound	CDKN1C protein results in increased susceptibility to [(+)-JQ1 compound co-treated with Vorinostat]	26390243
C561695	(+)-JQ1 compound	[(+)-JQ1 compound co-treated with Vorinostat] affects the expression of CDKN1C mRNA	26390243
C561695	(+)-JQ1 compound	[(+)-JQ1 compound co-treated with Vorinostat] affects the expression of CDKN1C protein	26390243
D019344	Lactic Acid	Lactic Acid results in decreased expression of CDKN1C mRNA	30851411
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine] results in decreased expression of CDKN1C mRNA	15784690
C018584	linalool	linalool results in increased expression of CDKN1C mRNA	19922762
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of CDKN1C mRNA	18192897
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of CDKN1C mRNA	12057914
D018021	Lithium Chloride	Lithium Chloride results in increased expression of CDKN1C mRNA	17440966
C025340	manganese chloride	manganese chloride results in decreased expression of CDKN1C mRNA	28801915
C019003	methaneselenol	methaneselenol results in increased expression of CDKN1C mRNA	19625696
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of CDKN1C mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of CDKN1C mRNA	23179753
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of CDKN1C mRNA	28001369
C008493	methylselenic acid	methylselenic acid affects the expression of CDKN1C mRNA	14617803
C008493	methylselenic acid	methylselenic acid results in increased expression of CDKN1C mRNA	18548127
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of CDKN1C mRNA	15585362
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of CDKN1C mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of CDKN1C mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of CDKN1C mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of CDKN1C mRNA	24768652; 25583101;
C017557	nickel subsulfide	nickel subsulfide results in decreased expression of CDKN1C	23447020
C017557	nickel subsulfide	nickel subsulfide results in decreased expression of CDKN1C mRNA	24952340
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in increased expression of CDKN1C mRNA	17616710
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of CDKN1C mRNA	20971185
C000594117	ON123300	ON123300 results in decreased expression of CDKN1C mRNA	26873845
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of CDKN1C mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of CDKN1C mRNA	25729387
D010081	Oxazolone	Oxazolone results in decreased expression of CDKN1C mRNA	21404309
D010100	Oxygen	Oxygen deficiency results in increased expression of CDKN1C mRNA	17914565; 20042640; 26516004;
D010269	Paraquat	Paraquat affects the expression of CDKN1C mRNA	25064622
D010269	Paraquat	Paraquat results in decreased expression of CDKN1C mRNA	21371552
C046012	pentanal	pentanal results in increased expression of CDKN1C mRNA	26079696
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of CDKN1C mRNA	18692542
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of CDKN1C mRNA	15728792
D000077205	Pioglitazone	[Pioglitazone co-treated with tert-Butylhydroperoxide] results in increased expression of CDKN1C mRNA	20847119
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CDKN1C mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of CDKN1C mRNA	23811191
D010938	Plant Oils	Plant Oils results in increased expression of CDKN1C mRNA	23370395
C060540	polyhexamethyleneguanidine	polyhexamethyleneguanidine results in increased expression of CDKN1C mRNA	24583197
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of CDKN1C mRNA	22064387
D011374	Progesterone	Progesterone results in increased expression of CDKN1C mRNA	20726854
C006068	propylparaben	[propylparaben co-treated with Butylated Hydroxyanisole] results in increased expression of CDKN1C mRNA	25086368
D011441	Propylthiouracil	Propylthiouracil affects the expression of CDKN1C mRNA	24780913
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of CDKN1C mRNA	25825206
D011748	Pyrogallol	Pyrogallol results in decreased expression of CDKN1C mRNA	20362636
D011748	Pyrogallol	Silymarin inhibits the reaction [Pyrogallol results in decreased expression of CDKN1C mRNA]	20362636
D011794	Quercetin	Quercetin results in increased expression of CDKN1C mRNA	14715546; 27514524;
D017382	Reactive Oxygen Species	Reactive Oxygen Species results in increased expression of CDKN1C mRNA	25800948
D000077185	Resveratrol	Resveratrol results in increased expression of CDKN1C mRNA	12569576; 20878097;
D000077154	Rosiglitazone	[Rosiglitazone co-treated with tert-Butylhydroperoxide] results in increased expression of CDKN1C mRNA	20847119
D000077154	Rosiglitazone	Rosiglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of CDKN1C mRNA]	20847119
D012643	Selenium	Selenium results in decreased expression of CDKN1C mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of CDKN1C mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of CDKN1C mRNA	25351596
D012838	Silymarin	Silymarin inhibits the reaction [Pyrogallol results in decreased expression of CDKN1C mRNA]	20362636
D019821	Simvastatin	Simvastatin results in increased expression of CDKN1C mRNA	17428261
D012906	Smoke	Smoke results in decreased expression of CDKN1C mRNA	21095227
C017947	sodium arsenite	sodium arsenite results in increased expression of CDKN1C mRNA	17451858
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of CDKN1C mRNA	27257137
D018038	Sodium Selenite	Sodium Selenite results in increased expression of CDKN1C mRNA	16705456
D000077204	Temozolomide	CDKN1C mRNA affects the susceptibility to Temozolomide	16365179
D020122	tert-Butylhydroperoxide	[Pioglitazone co-treated with tert-Butylhydroperoxide] results in increased expression of CDKN1C mRNA	20847119
D020122	tert-Butylhydroperoxide	[Rosiglitazone co-treated with tert-Butylhydroperoxide] results in increased expression of CDKN1C mRNA	20847119
D020122	tert-Butylhydroperoxide	Rosiglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of CDKN1C mRNA]	20847119
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide promotes the reaction [PPARG protein binds to CDKN1C promoter]	20847119
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of CDKN1C mRNA	12419474
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of CDKN1C mRNA	20847119
D020122	tert-Butylhydroperoxide	[Troglitazone co-treated with tert-Butylhydroperoxide] results in increased expression of CDKN1C mRNA	20847119
D020122	tert-Butylhydroperoxide	Troglitazone inhibits the reaction [tert-Butylhydroperoxide promotes the reaction [PPARG protein binds to CDKN1C promoter]]	20847119
D020122	tert-Butylhydroperoxide	Troglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of CDKN1C mRNA]	20847119
D013739	Testosterone	Testosterone results in decreased expression of CDKN1C mRNA	20403060
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CDKN1C mRNA	16443690
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CDKN1C mRNA	19684285
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CDKN1C mRNA	26377647
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CDKN1C mRNA	19465110; 19684285; 28922406;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CDKN1C mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of CDKN1C mRNA	21215274
D013752	Tetracycline	Tetracycline affects the expression of CDKN1C mRNA	25064622
D013755	Tetradecanoylphorbol Acetate	[Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of CDKN1C mRNA	16979875
D013806	Theophylline	Theophylline results in increased expression of CDKN1C mRNA	16083514
D013849	Thimerosal	Thimerosal results in decreased expression of CDKN1C mRNA	27188386
D013853	Thioacetamide	Thioacetamide affects the expression of CDKN1C mRNA	25064622
D013853	Thioacetamide	Thioacetamide results in increased expression of CDKN1C mRNA	22659510
D013882	Thiosemicarbazones	[Thiosemicarbazones binds to Copper] which results in increased expression of CDKN1C protein	20931265
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of CDKN1C mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in decreased expression of CDKN1C mRNA	23409001
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased methylation of CDKN1C promoter	25214829
D014051	Toluene 2,4-Diisocyanate	Toluene 2,4-Diisocyanate results in decreased expression of CDKN1C mRNA	21404309
D019772	Topotecan	CDKN1C protein affects the susceptibility to Topotecan	16217747
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of CDKN1C mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of CDKN1C mRNA	25729387
D014118	Toxins, Biological	Toxins, Biological affects the expression of CDKN1C mRNA	19682533
C496197	trans-10,cis-12-conjugated linoleic acid	trans-10,cis-12-conjugated linoleic acid results in increased expression of CDKN1C mRNA	17951470
D014212	Tretinoin	Tretinoin results in increased expression of CDKN1C mRNA	18230668
D014212	Tretinoin	Tretinoin metabolite results in decreased expression of CDKN1C mRNA	15982314
D014212	Tretinoin	Tretinoin results in decreased expression of CDKN1C mRNA	15982314; 23724009;
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 CDKN1C mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of CDKN1C mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of CDKN1C mRNA	26272509
D014260	Triclosan	Triclosan results in increased expression of CDKN1C mRNA	30510588
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of CDKN1C mRNA	19042947
D000077288	Troglitazone	[Troglitazone co-treated with tert-Butylhydroperoxide] results in increased expression of CDKN1C mRNA	20847119
D000077288	Troglitazone	Troglitazone inhibits the reaction [tert-Butylhydroperoxide promotes the reaction [PPARG protein binds to CDKN1C promoter]]	20847119
D000077288	Troglitazone	Troglitazone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of CDKN1C mRNA]	20847119
D014415	Tunicamycin	Tunicamycin results in decreased expression of CDKN1C mRNA	17127020
D014520	Urethane	Urethane results in decreased expression of CDKN1C mRNA	12117781
D014635	Valproic Acid	Valproic Acid affects the expression of CDKN1C mRNA	25064622
D014635	Valproic Acid	Valproic Acid affects the expression of CDKN1C mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of CDKN1C mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid results in increased expression of CDKN1C mRNA	22083351; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of CDKN1C protein	22083351
D014635	Valproic Acid	Valproic Acid results in increased methylation of CDKN1C gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of CDKN1C mRNA	29427782
C066075	vanadium pentoxide	vanadium pentoxide results in decreased expression of CDKN1C mRNA	17459161
C025643	vinclozolin	vinclozolin affects the expression of CDKN1C mRNA	19015723
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of CDKN1C mRNA	26682919
D014800	Vitallium	Vitallium analog results in increased expression of CDKN1C mRNA	23825117
D024483	Vitamin K 3	Vitamin K 3 affects the expression of CDKN1C mRNA	20044591
D000077337	Vorinostat	CDKN1C mutant form inhibits the reaction [[(+)-JQ1 compound co-treated with Vorinostat] results in increased cleavage of PARP1 protein]	26390243
D000077337	Vorinostat	[Vorinostat co-treated with Decitabine] results in increased expression of CDKN1C mRNA	17417771
D000077337	Vorinostat	Vorinostat results in decreased expression of CDKN1C mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of CDKN1C mRNA	17417771; 22083351;
D000077337	Vorinostat	Vorinostat results in increased expression of CDKN1C protein	22083351
D000077337	Vorinostat	CDKN1C protein results in increased susceptibility to [(+)-JQ1 compound co-treated with Vorinostat]	26390243
D000077337	Vorinostat	[(+)-JQ1 compound co-treated with Vorinostat] affects the expression of CDKN1C mRNA	26390243
D000077337	Vorinostat	[(+)-JQ1 compound co-treated with Vorinostat] affects the expression of CDKN1C protein	26390243
D015025	Zearalenone	Zearalenone results in decreased expression of CDKN1C mRNA	28965971
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine] results in decreased expression of CDKN1C mRNA	15784690
D015032	Zinc	[Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of CDKN1C mRNA	16979875
D015032	Zinc	Zinc results in increased expression of CDKN1C mRNA	19071009
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of CDKN1C mRNA	20977926

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0131	Cell cycle
KW-0225	Disease mutation
KW-0488	Methylation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0649	Protein kinase inhibitor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0043	Tumor suppressor

Interpro

InterPro ID	InterPro Term
IPR003175	CDI
IPR029842	CDKN1C

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF02234	CDI

Gene: CDKN1C

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