CleftGeneDB-Search

Gene: PYGO1

Basic information

Tag	Content
Uniprot ID	Q9Y3Y4; A7Y2D6;
Entrez ID	26108
Genbank protein ID	ABU93489.1; CAB43209.1; AAL91370.1;
Genbank nucleotide ID	NM_001330326.1; NM_015617.2; XM_011521446.2;
Ensembl protein ID	ENSP00000457777; ENSP00000302327; ENSP00000496139;
Ensembl nucleotide ID	ENSG00000171016
Gene name	Pygopus homolog 1
Gene symbol	PYGO1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in signal transduction through the Wnt pathway.
Sequence	MPAENSPAPA YKVSSHGGDS GLDGLGGPGV QLGSPDKKKR KANTQGPSFP PLSEYAPPPN 60 PNSDHLVAAN PFDDNYNTIS YKPLPSSNPY LGPGYPGFGG YSTFRMPPHV PPRMSSPYCG 120 PYSLRNQPHP FPQNPLGMGF NRPHAFNFGP HDNSSFGNPS YNNALSQNVN MPNQHFRQNP 180 AENFSQIPPQ NASQVSNPDL ASNFVPGNNS NFTSPLESNH SFIPPPNTFG QAKAPPPKQD 240 FTQGATKNTN QNSSAHPPHL NMDDTVNQSN IELKNVNRNN AVNQENSRSS STEATNNNPA 300 NGTQNKPRQP RGAADACTTE KSNKSSLHPN RHGHSSSDPV YPCGICTNEV NDDQDAILCE 360 ASCQKWFHRI CTGMTETAYG LLTAEASAVW GCDTCMADKD VQLMRTRETF GPSAVGSDA 419

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2VP7
2VPB
2VPD
2VPE
2VPG
2VPB

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PYGO1	527394	F1MHP8		Bos taurus	Prediction	More>>
1:1 ortholog	PYGO1		A0A452G0X5		Capra hircus	Prediction	More>>
1:1 ortholog	PYGO1	26108	Q9Y3Y4		Homo sapiens	Prediction	More>>
1:1 ortholog	Pygo1	72135	Q9D0P5	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PYGO1	467804	A0A2I3T6C4		Pan troglodytes	Prediction	More>>
1:1 ortholog	PYGO1	100156479	F1RZF2		Sus scrofa	Prediction	More>>
1:1 ortholog	PYGO1	100342223	G1T1W7		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Pygo1	691857	F1M5T3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pygo1		B7ZUU3		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs776599970	p.Ala3Thr	missense variant	-	NC_000015.10:g.55588846C>T	ExAC,gnomAD
rs768745111	p.Glu4Lys	missense variant	-	NC_000015.10:g.55588843C>T	ExAC,TOPMed,gnomAD
rs747239416	p.Asn5Ser	missense variant	-	NC_000015.10:g.55588839T>C	ExAC,gnomAD
rs758681711	p.Ser6Pro	missense variant	-	NC_000015.10:g.55588837A>G	ExAC,TOPMed,gnomAD
rs749163962	p.Ser6Tyr	missense variant	-	NC_000015.10:g.55588836G>T	ExAC,TOPMed,gnomAD
rs749163962	p.Ser6Phe	missense variant	-	NC_000015.10:g.55588836G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser6Thr	missense variant	-	NC_000015.10:g.55588837A>T	NCI-TCGA
rs1380166417	p.Pro9Ala	missense variant	-	NC_000015.10:g.55588828G>C	gnomAD
rs756015134	p.Pro9Leu	missense variant	-	NC_000015.10:g.55588827G>A	gnomAD
rs1398772812	p.Ala10Val	missense variant	-	NC_000015.10:g.55588824G>A	TOPMed,gnomAD
rs1185406966	p.Tyr11His	missense variant	-	NC_000015.10:g.55588822A>G	TOPMed
COSM963080	p.Lys12Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55588819T>A	NCI-TCGA Cosmic
rs544381422	p.Ser14Tyr	missense variant	-	NC_000015.10:g.55588812G>T	1000Genomes,ExAC,gnomAD
COSM1373628	p.Ser15Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55588809G>A	NCI-TCGA Cosmic
rs1259178158	p.Ser15Trp	missense variant	-	NC_000015.10:g.55588809G>C	TOPMed
rs1191759301	p.His16Pro	missense variant	-	NC_000015.10:g.55588806T>G	TOPMed
rs1475254788	p.His16Asn	missense variant	-	NC_000015.10:g.55588807G>T	TOPMed
rs762180451	p.Gly17Val	missense variant	-	NC_000015.10:g.55548995C>A	ExAC,gnomAD
rs145581831	p.Gly17Ser	missense variant	-	NC_000015.10:g.55588804C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762180451	p.Gly17Asp	missense variant	-	NC_000015.10:g.55548995C>T	ExAC,gnomAD
rs762180451	p.Gly17Val	missense variant	-	NC_000015.10:g.55548995C>A	NCI-TCGA
rs764729998	p.Gly18Arg	missense variant	-	NC_000015.10:g.55548993C>G	ExAC,gnomAD
rs547585077	p.Asp19Gly	missense variant	-	NC_000015.10:g.55548989T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs547585077	p.Asp19Val	missense variant	-	NC_000015.10:g.55548989T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1450156882	p.Ser20Gly	missense variant	-	NC_000015.10:g.55548987T>C	TOPMed,gnomAD
COSM470839	p.Gly21Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55548983C>T	NCI-TCGA Cosmic
rs564379685	p.Gly24Ala	missense variant	-	NC_000015.10:g.55548974C>G	gnomAD
rs564379685	p.Gly24Val	missense variant	-	NC_000015.10:g.55548974C>A	gnomAD
rs759841393	p.Gly24Arg	missense variant	-	NC_000015.10:g.55548975C>G	ExAC,gnomAD
rs759841393	p.Gly24Arg	missense variant	-	NC_000015.10:g.55548975C>T	ExAC,gnomAD
rs771299672	p.Gly29Asp	missense variant	-	NC_000015.10:g.55548959C>T	ExAC,TOPMed,gnomAD
rs771299672	p.Gly29Asp	missense variant	-	NC_000015.10:g.55548959C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1309019211	p.Gln31Arg	missense variant	-	NC_000015.10:g.55548953T>C	TOPMed
rs1394778807	p.Leu32Val	missense variant	-	NC_000015.10:g.55548951G>C	TOPMed
COSM4055774	p.Ser34Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55548944C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro35Ser	missense variant	-	NC_000015.10:g.55548942G>A	NCI-TCGA
NCI-TCGA novel	p.Asp36Tyr	missense variant	-	NC_000015.10:g.55548939C>A	NCI-TCGA
NCI-TCGA novel	p.Lys39Ter	stop gained	-	NC_000015.10:g.55548930T>A	NCI-TCGA
rs147959519	p.Arg40Cys	missense variant	-	NC_000015.10:g.55548927G>A	ESP,ExAC,TOPMed,gnomAD
rs779574413	p.Arg40His	missense variant	-	NC_000015.10:g.55548926C>T	NCI-TCGA,NCI-TCGA Cosmic
rs779574413	p.Arg40His	missense variant	-	NC_000015.10:g.55548926C>T	ExAC,TOPMed,gnomAD
rs147959519	p.Arg40Cys	missense variant	-	NC_000015.10:g.55548927G>A	NCI-TCGA,NCI-TCGA Cosmic
rs371375215	p.Ala42Val	missense variant	-	NC_000015.10:g.55548920G>A	ESP,ExAC,TOPMed,gnomAD
rs778686163	p.Thr44Ile	missense variant	-	NC_000015.10:g.55548914G>A	ExAC,gnomAD
rs1380667491	p.Gln45Arg	missense variant	-	NC_000015.10:g.55548911T>C	gnomAD
NCI-TCGA novel	p.Gln45TyrGly	insertion	-	NC_000015.10:g.55547147_55547148insCCCATA	NCI-TCGA
NCI-TCGA novel	p.Gln45His	missense variant	-	NC_000015.10:g.55548910C>A	NCI-TCGA
COSM3887208	p.Pro47Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55547143G>A	NCI-TCGA Cosmic
rs1203891994	p.Pro47His	missense variant	-	NC_000015.10:g.55547143G>T	gnomAD
rs746956079	p.Ser48Pro	missense variant	-	NC_000015.10:g.55547141A>G	ExAC,gnomAD
rs775353014	p.Phe49Leu	missense variant	-	NC_000015.10:g.55547136G>C	ExAC,gnomAD
rs1217424271	p.Pro50Thr	missense variant	-	NC_000015.10:g.55547135G>T	gnomAD
rs774086359	p.Leu52Phe	missense variant	-	NC_000015.10:g.55547127C>A	ExAC,TOPMed,gnomAD
rs1445782490	p.Glu54Asp	missense variant	-	NC_000015.10:g.55547121C>G	gnomAD
rs1228000597	p.Glu54Gln	missense variant	-	NC_000015.10:g.55547123C>G	TOPMed
rs1339627735	p.Ala56Thr	missense variant	-	NC_000015.10:g.55547117C>T	gnomAD
rs370670911	p.Pro58Leu	missense variant	-	NC_000015.10:g.55547110G>A	ESP,ExAC,TOPMed,gnomAD
rs1170267075	p.Pro59Leu	missense variant	-	NC_000015.10:g.55547107G>A	TOPMed,gnomAD
rs1170267075	p.Pro59Gln	missense variant	-	NC_000015.10:g.55547107G>T	TOPMed,gnomAD
rs1421793268	p.Asn60Ile	missense variant	-	NC_000015.10:g.55547104T>A	gnomAD
rs1174100696	p.Asn60Lys	missense variant	-	NC_000015.10:g.55547103A>C	gnomAD
rs1472792542	p.Asn62Asp	missense variant	-	NC_000015.10:g.55547099T>C	gnomAD
NCI-TCGA novel	p.Asn62Lys	missense variant	-	NC_000015.10:g.55547097G>T	NCI-TCGA
rs753098064	p.Ser63Pro	missense variant	-	NC_000015.10:g.55547096A>G	ExAC,gnomAD
rs753098064	p.Ser63Ala	missense variant	-	NC_000015.10:g.55547096A>C	ExAC,gnomAD
rs768200892	p.Asp64His	missense variant	-	NC_000015.10:g.55547093C>G	ExAC,TOPMed,gnomAD
rs768200892	p.Asp64Tyr	missense variant	-	NC_000015.10:g.55547093C>A	ExAC,TOPMed,gnomAD
rs755404445	p.His65Arg	missense variant	-	NC_000015.10:g.55547089T>C	ExAC,TOPMed,gnomAD
rs751707399	p.Ala69Gly	missense variant	-	NC_000015.10:g.55547077G>C	ExAC,gnomAD
rs1307530418	p.Asn75Ser	missense variant	-	NC_000015.10:g.55547059T>C	gnomAD
rs1377565424	p.Tyr76Asp	missense variant	-	NC_000015.10:g.55547057A>C	TOPMed
rs1274559127	p.Tyr76Cys	missense variant	-	NC_000015.10:g.55547056T>C	gnomAD
rs1479783212	p.Thr78Ala	missense variant	-	NC_000015.10:g.55547051T>C	TOPMed
rs374511718	p.Ile79Val	missense variant	-	NC_000015.10:g.55547048T>C	ESP,ExAC,TOPMed,gnomAD
rs1355631791	p.Tyr81Ser	missense variant	-	NC_000015.10:g.55547041T>G	gnomAD
rs1355631791	p.Tyr81Cys	missense variant	-	NC_000015.10:g.55547041T>C	gnomAD
rs763893571	p.Leu84Val	missense variant	-	NC_000015.10:g.55547033G>C	ExAC,TOPMed,gnomAD
rs1374429746	p.Pro85Ser	missense variant	-	NC_000015.10:g.55547030G>A	gnomAD
rs760526739	p.Pro85Arg	missense variant	-	NC_000015.10:g.55547029G>C	ExAC,gnomAD
rs144572806	p.Ser86Trp	missense variant	-	NC_000015.10:g.55547026G>C	ESP,ExAC,TOPMed,gnomAD
rs144572806	p.Ser86Leu	missense variant	-	NC_000015.10:g.55547026G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser86Pro	missense variant	-	NC_000015.10:g.55547027A>G	NCI-TCGA
rs773940802	p.Tyr90Ser	missense variant	-	NC_000015.10:g.55547014T>G	ExAC,gnomAD
rs770278178	p.Leu91Val	missense variant	-	NC_000015.10:g.55547012G>C	ExAC,gnomAD
rs770278178	p.Leu91Ile	missense variant	-	NC_000015.10:g.55547012G>T	ExAC,gnomAD
rs770278178	p.Leu91Phe	missense variant	-	NC_000015.10:g.55547012G>A	ExAC,gnomAD
rs770278178	p.Leu91Val	missense variant	-	NC_000015.10:g.55547012G>C	NCI-TCGA
rs777622851	p.Pro93Ser	missense variant	-	NC_000015.10:g.55547006G>A	ExAC,gnomAD
rs777622851	p.Pro93Ser	missense variant	-	NC_000015.10:g.55547006G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM2218384	p.Gly94Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55547003C>T	NCI-TCGA Cosmic
rs1211290129	p.Gly94Cys	missense variant	-	NC_000015.10:g.55547003C>A	gnomAD
rs755823830	p.Tyr95Phe	missense variant	-	NC_000015.10:g.55546999T>A	ExAC,gnomAD
rs748562151	p.Pro96Arg	missense variant	-	NC_000015.10:g.55546996G>C	ExAC,gnomAD
rs781672918	p.Phe98Ile	missense variant	-	NC_000015.10:g.55546991A>T	ExAC,TOPMed,gnomAD
rs781672918	p.Phe98Leu	missense variant	-	NC_000015.10:g.55546991A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly100Ser	missense variant	-	NC_000015.10:g.55546985C>T	NCI-TCGA
rs755529086	p.Tyr101Cys	missense variant	-	NC_000015.10:g.55546981T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg105Lys	missense variant	-	NC_000015.10:g.55546969C>T	NCI-TCGA
rs1292361783	p.His109Asn	missense variant	-	NC_000015.10:g.55546958G>T	gnomAD
rs758353539	p.Val110Phe	missense variant	-	NC_000015.10:g.55546955C>A	ExAC,TOPMed,gnomAD
rs758353539	p.Val110Ile	missense variant	-	NC_000015.10:g.55546955C>T	ExAC,TOPMed,gnomAD
rs867924163	p.Pro111Ser	missense variant	-	NC_000015.10:g.55546952G>A	gnomAD
rs867924163	p.Pro111Ala	missense variant	-	NC_000015.10:g.55546952G>C	gnomAD
rs867924163	p.Pro111Ser	missense variant	-	NC_000015.10:g.55546952G>A	NCI-TCGA Cosmic
rs144538691	p.Pro112Leu	missense variant	-	NC_000015.10:g.55546948G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1224537062	p.Pro112Thr	missense variant	-	NC_000015.10:g.55546949G>T	gnomAD
rs144256265	p.Arg113Lys	missense variant	-	NC_000015.10:g.55546945C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg113LysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.55546947_55546948insG	NCI-TCGA
rs1435788383	p.Met114Thr	missense variant	-	NC_000015.10:g.55546942A>G	gnomAD
rs1277716719	p.Met114Leu	missense variant	-	NC_000015.10:g.55546943T>A	gnomAD
rs1212862618	p.Ser116Pro	missense variant	-	NC_000015.10:g.55546937A>G	gnomAD
rs761994808	p.Ser116Phe	missense variant	-	NC_000015.10:g.55546936G>A	ExAC,gnomAD
rs775316329	p.Pro117Leu	missense variant	-	NC_000015.10:g.55546933G>A	ExAC,TOPMed,gnomAD
rs1381650620	p.Cys119Tyr	missense variant	-	NC_000015.10:g.55546927C>T	gnomAD
rs767170875	p.Cys119Trp	missense variant	-	NC_000015.10:g.55546926A>C	ExAC,gnomAD
rs563762840	p.Gly120Arg	missense variant	-	NC_000015.10:g.55546925C>G	1000Genomes,ExAC,gnomAD
COSM416889	p.Tyr122Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546917G>T	NCI-TCGA Cosmic
COSM3816386	p.Ser123Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546915G>A	NCI-TCGA Cosmic
rs1409647183	p.Arg125Lys	missense variant	-	NC_000015.10:g.55546909C>T	gnomAD
NCI-TCGA novel	p.Arg125Met	missense variant	-	NC_000015.10:g.55546909C>A	NCI-TCGA
rs139317374	p.Asn126Thr	missense variant	-	NC_000015.10:g.55546906T>G	ESP,ExAC,TOPMed,gnomAD
rs139317374	p.Asn126Ser	missense variant	-	NC_000015.10:g.55546906T>C	ESP,ExAC,TOPMed,gnomAD
rs1477392269	p.Gln127Leu	missense variant	-	NC_000015.10:g.55546903T>A	gnomAD
rs1269039140	p.Pro128Arg	missense variant	-	NC_000015.10:g.55546900G>C	gnomAD
rs769619041	p.Pro130Ala	missense variant	-	NC_000015.10:g.55546895G>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro130Gln	missense variant	-	NC_000015.10:g.55546894G>T	NCI-TCGA
rs781712789	p.Pro132Ser	missense variant	-	NC_000015.10:g.55546889G>A	ExAC,gnomAD
rs1318526081	p.Gln133Arg	missense variant	-	NC_000015.10:g.55546885T>C	gnomAD
rs1299414748	p.Asn134Ser	missense variant	-	NC_000015.10:g.55546882T>C	gnomAD
rs146232720	p.Pro135Leu	missense variant	-	NC_000015.10:g.55546879G>A	ESP,TOPMed
COSM4055773	p.Pro135Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546880G>A	NCI-TCGA Cosmic
rs768837584	p.Gly137Cys	missense variant	-	NC_000015.10:g.55546874C>A	ExAC,TOPMed,gnomAD
rs768837584	p.Gly137Arg	missense variant	-	NC_000015.10:g.55546874C>G	ExAC,TOPMed,gnomAD
rs550229225	p.Met138Arg	missense variant	-	NC_000015.10:g.55546870A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs550229225	p.Met138Thr	missense variant	-	NC_000015.10:g.55546870A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201851951	p.Met138Ile	missense variant	-	NC_000015.10:g.55546869C>T	1000Genomes,ExAC,gnomAD
rs750545802	p.Gly139Ser	missense variant	-	NC_000015.10:g.55546868C>T	ExAC,TOPMed,gnomAD
rs1454554374	p.Arg142Pro	missense variant	-	NC_000015.10:g.55546858C>G	TOPMed
rs199862482	p.Arg142Gly	missense variant	-	NC_000015.10:g.55546859G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg142Ter	stop gained	-	NC_000015.10:g.55546859G>A	NCI-TCGA
rs141757049	p.Pro143Ala	missense variant	-	NC_000015.10:g.55546856G>C	ESP,ExAC,TOPMed,gnomAD
rs141757049	p.Pro143Ser	missense variant	-	NC_000015.10:g.55546856G>A	ESP,ExAC,TOPMed,gnomAD
rs141757049	p.Pro143Thr	missense variant	-	NC_000015.10:g.55546856G>T	ESP,ExAC,TOPMed,gnomAD
rs766267840	p.His144Tyr	missense variant	-	NC_000015.10:g.55546853G>A	ExAC,gnomAD
rs766267840	p.His144Tyr	missense variant	-	NC_000015.10:g.55546853G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala145Thr	missense variant	-	NC_000015.10:g.55546850C>T	NCI-TCGA
rs1429378012	p.Asn147Asp	missense variant	-	NC_000015.10:g.55546844T>C	gnomAD
rs1429378012	p.Asn147Asp	missense variant	-	NC_000015.10:g.55546844T>C	NCI-TCGA Cosmic
rs1200875048	p.Phe148Cys	missense variant	-	NC_000015.10:g.55546840A>C	gnomAD
rs772869757	p.Gly149Arg	missense variant	-	NC_000015.10:g.55546838C>G	ExAC,gnomAD
rs769387539	p.His151Arg	missense variant	-	NC_000015.10:g.55546831T>C	ExAC,TOPMed,gnomAD
rs34871247	p.Ser155Ile	missense variant	-	NC_000015.10:g.55546819C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200667416	p.Phe156Leu	missense variant	-	NC_000015.10:g.55546815G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747400270	p.Gly157Ser	missense variant	-	NC_000015.10:g.55546814C>T	ExAC,gnomAD
rs1216808536	p.Ser160Phe	missense variant	-	NC_000015.10:g.55546804G>A	gnomAD
NCI-TCGA novel	p.Ser160Tyr	missense variant	-	NC_000015.10:g.55546804G>T	NCI-TCGA
rs1243658650	p.Leu165Pro	missense variant	-	NC_000015.10:g.55546789A>G	TOPMed
rs1291443114	p.Ser166Gly	missense variant	-	NC_000015.10:g.55546787T>C	TOPMed
rs746328743	p.Gln167Leu	missense variant	-	NC_000015.10:g.55546783T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln167His	missense variant	-	NC_000015.10:g.55546782C>A	NCI-TCGA
rs144876912	p.Val169Leu	missense variant	-	NC_000015.10:g.55546778C>G	ESP,ExAC,TOPMed,gnomAD
rs777920900	p.Asn170Ser	missense variant	-	NC_000015.10:g.55546774T>C	ExAC,gnomAD
rs756324582	p.Met171Val	missense variant	-	NC_000015.10:g.55546772T>C	ExAC,TOPMed,gnomAD
rs751360146	p.Pro172Leu	missense variant	-	NC_000015.10:g.55546768G>A	ExAC,gnomAD
rs766148029	p.His175Arg	missense variant	-	NC_000015.10:g.55546759T>C	ExAC,gnomAD
rs1430295545	p.His175Gln	missense variant	-	NC_000015.10:g.55546758A>C	gnomAD
rs1253808874	p.Phe176Tyr	missense variant	-	NC_000015.10:g.55546756A>T	gnomAD
rs763013720	p.Arg177Thr	missense variant	-	NC_000015.10:g.55546753C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn179Lys	missense variant	-	NC_000015.10:g.55546746A>C	NCI-TCGA
rs1483049712	p.Pro180Arg	missense variant	-	NC_000015.10:g.55546744G>C	TOPMed
COSM1373625	p.Pro180Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546745G>A	NCI-TCGA Cosmic
rs764855179	p.Ala181Ser	missense variant	-	NC_000015.10:g.55546742C>A	ExAC,TOPMed,gnomAD
rs1046002289	p.Ser185Arg	missense variant	-	NC_000015.10:g.55546730T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser185LysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.55546726_55546729TGAC>-	NCI-TCGA
NCI-TCGA novel	p.Ser185Gly	missense variant	-	NC_000015.10:g.55546730T>C	NCI-TCGA
rs573318592	p.Gln186His	missense variant	-	NC_000015.10:g.55546725T>G	TOPMed
rs546121595	p.Ile187Val	missense variant	-	NC_000015.10:g.55546724T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs546121595	p.Ile187Phe	missense variant	-	NC_000015.10:g.55546724T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro188Ser	missense variant	-	NC_000015.10:g.55546721G>A	NCI-TCGA
rs915937334	p.Gln190His	missense variant	-	NC_000015.10:g.55546713C>G	TOPMed,gnomAD
rs376229450	p.Ala192Thr	missense variant	-	NC_000015.10:g.55546709C>T	ESP,ExAC,TOPMed,gnomAD
rs763694252	p.Ser193Asn	missense variant	-	NC_000015.10:g.55546705C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln194Lys	missense variant	-	NC_000015.10:g.55546703G>T	NCI-TCGA
NCI-TCGA novel	p.Val195Asp	missense variant	-	NC_000015.10:g.55546699A>T	NCI-TCGA
rs1453773623	p.Ser196Ala	missense variant	-	NC_000015.10:g.55546697A>C	gnomAD
rs1385476074	p.Asn197Ile	missense variant	-	NC_000015.10:g.55546693T>A	gnomAD
rs147976957	p.Pro198His	missense variant	-	NC_000015.10:g.55546690G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro198Thr	missense variant	-	NC_000015.10:g.55546691G>T	NCI-TCGA
rs988814042	p.Asp199Tyr	missense variant	-	NC_000015.10:g.55546688C>A	TOPMed,gnomAD
rs988814042	p.Asp199Asn	missense variant	-	NC_000015.10:g.55546688C>T	TOPMed,gnomAD
rs769596095	p.Ala201Ser	missense variant	-	NC_000015.10:g.55546682C>A	TOPMed,gnomAD
rs957373654	p.Ser202Thr	missense variant	-	NC_000015.10:g.55546679A>T	gnomAD
rs957373654	p.Ser202Pro	missense variant	-	NC_000015.10:g.55546679A>G	gnomAD
rs1463070408	p.Asn203Asp	missense variant	-	NC_000015.10:g.55546676T>C	gnomAD
rs1380967534	p.Asn203Lys	missense variant	-	NC_000015.10:g.55546674A>C	TOPMed
COSM963077	p.Pro206His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546666G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro206Thr	missense variant	-	NC_000015.10:g.55546667G>T	NCI-TCGA
rs1162871540	p.Asn208Asp	missense variant	-	NC_000015.10:g.55546661T>C	gnomAD
rs1386918543	p.Asn211Asp	missense variant	-	NC_000015.10:g.55546652T>C	TOPMed,gnomAD
rs1386918543	p.Asn211His	missense variant	-	NC_000015.10:g.55546652T>G	TOPMed,gnomAD
COSM963076	p.Phe212Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546649A>C	NCI-TCGA Cosmic
rs771420337	p.Phe212Leu	missense variant	-	NC_000015.10:g.55546647A>C	ExAC,TOPMed,gnomAD
rs749363603	p.Ser214Ala	missense variant	-	NC_000015.10:g.55546643A>C	ExAC,gnomAD
rs777886311	p.Pro215Leu	missense variant	-	NC_000015.10:g.55546639G>A	ExAC,gnomAD
rs777886311	p.Pro215Leu	missense variant	-	NC_000015.10:g.55546639G>A	NCI-TCGA
rs578049597	p.Leu216Ser	missense variant	-	NC_000015.10:g.55546636A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu217Asp	missense variant	-	NC_000015.10:g.55546632T>G	NCI-TCGA
COSM963074	p.Ser218Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546630G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn219Lys	missense variant	-	NC_000015.10:g.55546626A>T	NCI-TCGA
rs1247395979	p.His220Asp	missense variant	-	NC_000015.10:g.55546625G>C	gnomAD
rs1253103732	p.Ser221Tyr	missense variant	-	NC_000015.10:g.55546621G>T	TOPMed
COSM3502556	p.Ser221Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546621G>A	NCI-TCGA Cosmic
rs758212006	p.Phe222Val	missense variant	-	NC_000015.10:g.55546619A>C	ExAC,gnomAD
rs1237500274	p.Ile223Ser	missense variant	-	NC_000015.10:g.55546615A>C	TOPMed,gnomAD
rs1183146996	p.Pro224Leu	missense variant	-	NC_000015.10:g.55546612G>A	TOPMed
rs1183146996	p.Pro224Leu	missense variant	-	NC_000015.10:g.55546612G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro224His	missense variant	-	NC_000015.10:g.55546612G>T	NCI-TCGA
NCI-TCGA novel	p.Pro224Ser	missense variant	-	NC_000015.10:g.55546613G>A	NCI-TCGA
rs750231673	p.Pro226Gln	missense variant	-	NC_000015.10:g.55546606G>T	ExAC,TOPMed,gnomAD
rs1392571394	p.Thr228Ala	missense variant	-	NC_000015.10:g.55546601T>C	TOPMed,gnomAD
rs753341877	p.Ala232Glu	missense variant	-	NC_000015.10:g.55546588G>T	ExAC,TOPMed
rs376483058	p.Ala232Thr	missense variant	-	NC_000015.10:g.55546589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753341877	p.Ala232Val	missense variant	-	NC_000015.10:g.55546588G>A	ExAC,TOPMed
rs763614854	p.Pro235Ser	missense variant	-	NC_000015.10:g.55546580G>A	ExAC,gnomAD
rs143461426	p.Pro237Thr	missense variant	-	NC_000015.10:g.55546574G>T	ESP,ExAC,TOPMed,gnomAD
COSM3502554	p.Pro237Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546573G>A	NCI-TCGA Cosmic
rs143461426	p.Pro237Ala	missense variant	-	NC_000015.10:g.55546574G>C	ESP,ExAC,TOPMed,gnomAD
rs1156541462	p.Gln239Pro	missense variant	-	NC_000015.10:g.55546567T>G	gnomAD
rs538321943	p.Asp240Gly	missense variant	-	NC_000015.10:g.55546564T>C	1000Genomes,ExAC,gnomAD
rs546023986	p.Asp240Asn	missense variant	-	NC_000015.10:g.55546565C>T	ExAC,TOPMed,gnomAD
rs774663751	p.Phe241Val	missense variant	-	NC_000015.10:g.55546562A>C	ExAC,TOPMed,gnomAD
rs1266821536	p.Thr242Ile	missense variant	-	NC_000015.10:g.55546558G>A	gnomAD
rs1431479031	p.Thr242Ala	missense variant	-	NC_000015.10:g.55546559T>C	gnomAD
rs749754419	p.Gln243Arg	missense variant	-	NC_000015.10:g.55546555T>C	ExAC,TOPMed,gnomAD
rs374943202	p.Gln243Glu	missense variant	-	NC_000015.10:g.55546556G>C	ESP,ExAC,TOPMed,gnomAD
rs374943202	p.Gln243Glu	missense variant	-	NC_000015.10:g.55546556G>C	NCI-TCGA
rs1216267565	p.Ala245Glu	missense variant	-	NC_000015.10:g.55546549G>T	TOPMed,gnomAD
rs1216267565	p.Ala245Val	missense variant	-	NC_000015.10:g.55546549G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn248Lys	missense variant	-	NC_000015.10:g.55546539G>T	NCI-TCGA
NCI-TCGA novel	p.Gln251Ter	stop gained	-	NC_000015.10:g.55546532G>A	NCI-TCGA
rs1007307667	p.Asn252Ile	missense variant	-	NC_000015.10:g.55546528T>A	TOPMed
NCI-TCGA novel	p.Ser253Phe	missense variant	-	NC_000015.10:g.55546525G>A	NCI-TCGA
rs957073068	p.Ala255Val	missense variant	-	NC_000015.10:g.55546519G>A	TOPMed,gnomAD
rs1279726254	p.His256Tyr	missense variant	-	NC_000015.10:g.55546517G>A	gnomAD
rs769843743	p.His256Pro	missense variant	-	NC_000015.10:g.55546516T>G	ExAC,TOPMed,gnomAD
rs1328836322	p.Pro257Leu	missense variant	-	NC_000015.10:g.55546513G>A	gnomAD
rs575696638	p.Pro258His	missense variant	-	NC_000015.10:g.55546510G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201235968	p.Met262Ile	missense variant	-	NC_000015.10:g.55546497C>G	1000Genomes,ExAC,gnomAD
rs1261411983	p.Asp264Glu	missense variant	-	NC_000015.10:g.55546491G>C	TOPMed
rs1045965174	p.Thr265Ser	missense variant	-	NC_000015.10:g.55546490T>A	TOPMed
rs1204597388	p.Gln268His	missense variant	-	NC_000015.10:g.55546479C>A	TOPMed
rs1312699328	p.Asn270Thr	missense variant	-	NC_000015.10:g.55546474T>G	gnomAD
rs778829834	p.Ile271Thr	missense variant	-	NC_000015.10:g.55546471A>G	NCI-TCGA
rs778829834	p.Ile271Thr	missense variant	-	NC_000015.10:g.55546471A>G	ExAC,TOPMed,gnomAD
rs1448691713	p.Glu272Asp	missense variant	-	NC_000015.10:g.55546467T>A	gnomAD
rs1160488904	p.Leu273Phe	missense variant	-	NC_000015.10:g.55546464T>A	gnomAD
rs949944347	p.Asn275Ser	missense variant	-	NC_000015.10:g.55546459T>C	TOPMed,gnomAD
rs949944347	p.Asn275Ile	missense variant	-	NC_000015.10:g.55546459T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn275MetPheSerTerUnk	frameshift	-	NC_000015.10:g.55546459T>-	NCI-TCGA
rs949944347	p.Asn275Ser	missense variant	-	NC_000015.10:g.55546459T>C	NCI-TCGA Cosmic
rs1428677537	p.Val276Ile	missense variant	-	NC_000015.10:g.55546457C>T	gnomAD
rs1200151670	p.Asn277Ser	missense variant	-	NC_000015.10:g.55546453T>C	gnomAD
rs1400966915	p.Asn277Asp	missense variant	-	NC_000015.10:g.55546454T>C	gnomAD
COSM2218373	p.Arg278Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546451G>A	NCI-TCGA Cosmic
rs200070647	p.Arg278Gln	missense variant	-	NC_000015.10:g.55546450C>T	NCI-TCGA
rs200070647	p.Arg278Gln	missense variant	-	NC_000015.10:g.55546450C>T	ExAC,TOPMed,gnomAD
rs1420127656	p.Asn279Ser	missense variant	-	NC_000015.10:g.55546447T>C	TOPMed
rs753773381	p.Asn280Asp	missense variant	-	NC_000015.10:g.55546445T>C	ExAC,gnomAD
rs148843644	p.Asn280Ser	missense variant	-	NC_000015.10:g.55546444T>C	ESP,ExAC,TOPMed,gnomAD
rs1173593589	p.Asn283His	missense variant	-	NC_000015.10:g.55546436T>G	TOPMed
rs913028237	p.Glu285Lys	missense variant	-	NC_000015.10:g.55546430C>T	TOPMed
rs757026680	p.Asn286Asp	missense variant	-	NC_000015.10:g.55546427T>C	ExAC,TOPMed,gnomAD
rs767194177	p.Ser287Gly	missense variant	-	NC_000015.10:g.55546424T>C	ExAC,TOPMed,gnomAD
rs751942366	p.Arg288His	missense variant	-	NC_000015.10:g.55546420C>T	ExAC,gnomAD
rs371893591	p.Arg288Cys	missense variant	-	NC_000015.10:g.55546421G>A	ESP,ExAC,TOPMed,gnomAD
rs371893591	p.Arg288Cys	missense variant	-	NC_000015.10:g.55546421G>A	NCI-TCGA
COSM3887206	p.Ser289Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546417G>A	NCI-TCGA Cosmic
rs1223541663	p.Thr292Ser	missense variant	-	NC_000015.10:g.55546409T>A	gnomAD
rs1325113369	p.Thr292Asn	missense variant	-	NC_000015.10:g.55546408G>T	gnomAD
rs763372309	p.Glu293Lys	missense variant	-	NC_000015.10:g.55546406C>T	ExAC,gnomAD
rs1363261271	p.Asn296Tyr	missense variant	-	NC_000015.10:g.55546397T>A	TOPMed
rs1394072810	p.Asn297Ile	missense variant	-	NC_000015.10:g.55546393T>A	gnomAD
rs11858624	p.Pro299His	missense variant	-	NC_000015.10:g.55546387G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769050281	p.Ala300Pro	missense variant	-	NC_000015.10:g.55546385C>G	ExAC,TOPMed,gnomAD
rs747182453	p.Gly302Arg	missense variant	-	NC_000015.10:g.55546379C>T	ExAC,gnomAD
rs1047604341	p.Thr303Ser	missense variant	-	NC_000015.10:g.55546376T>A	TOPMed,gnomAD
rs147078512	p.Thr303Met	missense variant	-	NC_000015.10:g.55546375G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln304Ter	stop gained	-	NC_000015.10:g.55546373G>A	NCI-TCGA
rs755117683	p.Pro307Ser	missense variant	-	NC_000015.10:g.55546364G>A	ExAC,gnomAD
rs755971128	p.Arg308Gln	missense variant	-	NC_000015.10:g.55546360C>T	ExAC,gnomAD
COSM1373623	p.Arg308Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546361G>A	NCI-TCGA Cosmic
rs780628154	p.Gln309Lys	missense variant	-	NC_000015.10:g.55546358G>T	ExAC,gnomAD
rs751144748	p.Pro310Ala	missense variant	-	NC_000015.10:g.55546355G>C	ExAC,TOPMed,gnomAD
rs1270364746	p.Pro310Arg	missense variant	-	NC_000015.10:g.55546354G>C	TOPMed
rs766740459	p.Arg311Thr	missense variant	-	NC_000015.10:g.55546351C>G	ExAC,gnomAD
rs763431118	p.Gly312Asp	missense variant	-	NC_000015.10:g.55546348C>T	ExAC,gnomAD
rs765815616	p.Ala313Val	missense variant	-	NC_000015.10:g.55546345G>A	ExAC,gnomAD
rs750750474	p.Ala313Thr	missense variant	-	NC_000015.10:g.55546346C>T	ExAC,gnomAD
rs776874665	p.Asp315Tyr	missense variant	-	NC_000015.10:g.55546340C>A	ExAC,gnomAD
rs1027394940	p.Ala316Val	missense variant	-	NC_000015.10:g.55546336G>A	TOPMed
rs1027394940	p.Ala316Gly	missense variant	-	NC_000015.10:g.55546336G>C	TOPMed
rs1398200921	p.Cys317Tyr	missense variant	-	NC_000015.10:g.55546333C>T	gnomAD
rs1398200921	p.Cys317Phe	missense variant	-	NC_000015.10:g.55546333C>A	gnomAD
rs140625196	p.Thr318Ile	missense variant	-	NC_000015.10:g.55546330G>A	ExAC,gnomAD
rs140625196	p.Thr318Asn	missense variant	-	NC_000015.10:g.55546330G>T	ExAC,gnomAD
rs760986457	p.Thr319Ala	missense variant	-	NC_000015.10:g.55546328T>C	ExAC,gnomAD
rs775800113	p.Thr319Ile	missense variant	-	NC_000015.10:g.55546327G>A	ExAC,gnomAD
rs1162011584	p.Glu320Gly	missense variant	-	NC_000015.10:g.55546324T>C	gnomAD
rs1444364514	p.Ser322Asn	missense variant	-	NC_000015.10:g.55546318C>T	gnomAD
rs772173374	p.Lys324Thr	missense variant	-	NC_000015.10:g.55546312T>G	ExAC,gnomAD
rs749144166	p.Ser325Pro	missense variant	-	NC_000015.10:g.55546310A>G	ExAC,gnomAD
rs61737322	p.Ser326Phe	missense variant	-	NC_000015.10:g.55546306G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1014204278	p.Pro329Ser	missense variant	-	NC_000015.10:g.55546298G>A	gnomAD
rs748037581	p.Pro329Gln	missense variant	-	NC_000015.10:g.55546297G>T	ExAC,gnomAD
rs1220211399	p.Asn330Ser	missense variant	-	NC_000015.10:g.55546294T>C	gnomAD
rs561670102	p.Arg331His	missense variant	-	NC_000015.10:g.55546291C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780685282	p.Arg331Cys	missense variant	-	NC_000015.10:g.55546292G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg331Pro	missense variant	-	NC_000015.10:g.55546291C>G	NCI-TCGA
rs780685282	p.Arg331Cys	missense variant	-	NC_000015.10:g.55546292G>A	NCI-TCGA
rs368421960	p.His332Leu	missense variant	-	NC_000015.10:g.55546288T>A	ESP,ExAC,TOPMed,gnomAD
rs368421960	p.His332Arg	missense variant	-	NC_000015.10:g.55546288T>C	ESP,ExAC,TOPMed,gnomAD
rs1389657573	p.Ser335Leu	missense variant	-	NC_000015.10:g.55546279G>A	TOPMed,gnomAD
rs1389657573	p.Ser335Leu	missense variant	-	NC_000015.10:g.55546279G>A	NCI-TCGA Cosmic
rs754334597	p.Ser336Tyr	missense variant	-	NC_000015.10:g.55546276G>T	ExAC,TOPMed,gnomAD
rs754334597	p.Ser336Phe	missense variant	-	NC_000015.10:g.55546276G>A	ExAC,TOPMed,gnomAD
rs764284876	p.Ser337Phe	missense variant	-	NC_000015.10:g.55546273G>A	ExAC,TOPMed,gnomAD
rs1052905917	p.Asp338Tyr	missense variant	-	NC_000015.10:g.55546271C>A	TOPMed,gnomAD
rs1052905917	p.Asp338Asn	missense variant	-	NC_000015.10:g.55546271C>T	TOPMed,gnomAD
rs760898097	p.Pro339Ser	missense variant	-	NC_000015.10:g.55546268G>A	ExAC,TOPMed,gnomAD
rs1366577314	p.Val340Ala	missense variant	-	NC_000015.10:g.55546264A>G	gnomAD
rs151028742	p.Pro342Ser	missense variant	-	NC_000015.10:g.55546259G>A	ESP,ExAC,TOPMed,gnomAD
rs151028742	p.Pro342Ala	missense variant	-	NC_000015.10:g.55546259G>C	ESP,ExAC,TOPMed,gnomAD
rs151028742	p.Pro342Thr	missense variant	-	NC_000015.10:g.55546259G>T	ESP,ExAC,TOPMed,gnomAD
rs1405283223	p.Gly344Glu	missense variant	-	NC_000015.10:g.55546252C>T	TOPMed,gnomAD
rs1438238347	p.Gly344Arg	missense variant	-	NC_000015.10:g.55546253C>T	gnomAD
rs1405283223	p.Gly344Val	missense variant	-	NC_000015.10:g.55546252C>A	TOPMed,gnomAD
rs773087656	p.Thr347Ala	missense variant	-	NC_000015.10:g.55546244T>C	ExAC,gnomAD
rs1381263475	p.Asn348Asp	missense variant	-	NC_000015.10:g.55546241T>C	TOPMed
rs748090860	p.Glu349Lys	missense variant	-	NC_000015.10:g.55546238C>T	ExAC,gnomAD
rs776605770	p.Asn351Lys	missense variant	-	NC_000015.10:g.55546230G>C	ExAC,TOPMed,gnomAD
rs768574871	p.Asp352Asn	missense variant	-	NC_000015.10:g.55546229C>T	ExAC,gnomAD
rs1425896092	p.Asp353Asn	missense variant	-	NC_000015.10:g.55546226C>T	TOPMed
rs1328245582	p.Asp353Ala	missense variant	-	NC_000015.10:g.55546225T>G	TOPMed
rs746563853	p.Gln354His	missense variant	-	NC_000015.10:g.55546221C>G	ExAC,gnomAD
rs779411917	p.Asp355His	missense variant	-	NC_000015.10:g.55546220C>G	ExAC,gnomAD
rs1224592870	p.Ala361Val	missense variant	-	NC_000015.10:g.55546201G>A	gnomAD
rs1014385575	p.Ser362Cys	missense variant	-	NC_000015.10:g.55546198G>C	TOPMed,gnomAD
rs200729272	p.Gln364Arg	missense variant	-	NC_000015.10:g.55546192T>C	ESP,ExAC,TOPMed,gnomAD
rs779343554	p.Arg369Gln	missense variant	-	NC_000015.10:g.55546177C>T	ExAC,TOPMed,gnomAD
rs1364906693	p.Arg369Trp	missense variant	-	NC_000015.10:g.55546178G>A	gnomAD
rs1364906693	p.Arg369Trp	missense variant	-	NC_000015.10:g.55546178G>A	NCI-TCGA Cosmic
rs779343554	p.Arg369Gln	missense variant	-	NC_000015.10:g.55546177C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile370Thr	missense variant	-	NC_000015.10:g.55546174A>G	NCI-TCGA
rs1316978970	p.Thr372Ser	missense variant	-	NC_000015.10:g.55546168G>C	TOPMed
COSM4055770	p.Gly373Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546166C>A	NCI-TCGA Cosmic
rs1345009430	p.Thr375Ile	missense variant	-	NC_000015.10:g.55546159G>A	gnomAD
rs757641983	p.Glu376Ala	missense variant	-	NC_000015.10:g.55546156T>G	ExAC,gnomAD
rs754244655	p.Thr377Ala	missense variant	-	NC_000015.10:g.55546154T>C	ExAC,TOPMed,gnomAD
COSM700914	p.Ala378Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546150G>T	NCI-TCGA Cosmic
rs764767344	p.Tyr379Phe	missense variant	-	NC_000015.10:g.55546147T>A	ExAC,gnomAD
rs888474961	p.Gly380Asp	missense variant	-	NC_000015.10:g.55546144C>T	TOPMed,gnomAD
rs888474961	p.Gly380Val	missense variant	-	NC_000015.10:g.55546144C>A	TOPMed,gnomAD
rs756663494	p.Leu381Ile	missense variant	-	NC_000015.10:g.55546142G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu381Val	missense variant	-	NC_000015.10:g.55546142G>C	NCI-TCGA
rs1201556224	p.Thr383Ile	missense variant	-	NC_000015.10:g.55546135G>A	gnomAD
NCI-TCGA novel	p.Glu385Gln	missense variant	-	NC_000015.10:g.55546130C>G	NCI-TCGA
rs759805813	p.Ser387Cys	missense variant	-	NC_000015.10:g.55546123G>C	ExAC,TOPMed,gnomAD
rs759805813	p.Ser387Phe	missense variant	-	NC_000015.10:g.55546123G>A	ExAC,TOPMed,gnomAD
rs766608357	p.Val389Leu	missense variant	-	NC_000015.10:g.55546118C>A	ExAC,gnomAD
rs1222929357	p.Trp390Arg	missense variant	-	NC_000015.10:g.55546115A>G	gnomAD
rs1442470969	p.Gly391Asp	missense variant	-	NC_000015.10:g.55546111C>T	TOPMed
rs1324406969	p.Cys392Trp	missense variant	-	NC_000015.10:g.55546107A>C	gnomAD
rs768631794	p.Asp393Gly	missense variant	-	NC_000015.10:g.55546105T>C	ExAC,TOPMed,gnomAD
rs768631794	p.Asp393Val	missense variant	-	NC_000015.10:g.55546105T>A	ExAC,TOPMed,gnomAD
rs746899332	p.Thr394Asn	missense variant	-	NC_000015.10:g.55546102G>T	ExAC,gnomAD
rs1361678317	p.Ala397Gly	missense variant	-	NC_000015.10:g.55546093G>C	gnomAD
NCI-TCGA novel	p.Ala397Thr	missense variant	-	NC_000015.10:g.55546094C>T	NCI-TCGA
NCI-TCGA novel	p.Asp398Val	missense variant	-	NC_000015.10:g.55546090T>A	NCI-TCGA
rs1435467831	p.Lys399Glu	missense variant	-	NC_000015.10:g.55546088T>C	gnomAD
rs1167877249	p.Lys399Arg	missense variant	-	NC_000015.10:g.55546087T>C	TOPMed
rs1268641048	p.Val401Ala	missense variant	-	NC_000015.10:g.55546081A>G	gnomAD
rs1390327873	p.Gln402His	missense variant	-	NC_000015.10:g.55546077C>A	TOPMed,gnomAD
rs1390327873	p.Gln402His	missense variant	-	NC_000015.10:g.55546077C>G	TOPMed,gnomAD
rs1173857105	p.Leu403Val	missense variant	-	NC_000015.10:g.55546076A>C	gnomAD
rs771420789	p.Met404Thr	missense variant	-	NC_000015.10:g.55546072A>G	ExAC,gnomAD
rs146333956	p.Arg405His	missense variant	-	NC_000015.10:g.55546069C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs564470411	p.Arg405Cys	missense variant	-	NC_000015.10:g.55546070G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs564470411	p.Arg405Cys	missense variant	-	NC_000015.10:g.55546070G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM4055769	p.Thr406Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546067T>C	NCI-TCGA Cosmic
COSM963068	p.Glu408Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546061C>A	NCI-TCGA Cosmic
rs749716684	p.Glu408Ala	missense variant	-	NC_000015.10:g.55546060T>G	ExAC,gnomAD
rs930090561	p.Thr409Asn	missense variant	-	NC_000015.10:g.55546057G>T	TOPMed,gnomAD
rs952820470	p.Phe410Ser	missense variant	-	NC_000015.10:g.55546054A>G	gnomAD
rs778231257	p.Gly411Val	missense variant	-	NC_000015.10:g.55546051C>A	ExAC,TOPMed,gnomAD
rs778231257	p.Gly411Asp	missense variant	-	NC_000015.10:g.55546051C>T	ExAC,TOPMed,gnomAD
rs1040577428	p.Ala414Val	missense variant	-	NC_000015.10:g.55546042G>A	TOPMed
rs376253265	p.Val415Gly	missense variant	-	NC_000015.10:g.55546039A>C	ESP,TOPMed
rs1225868090	p.Gly416Cys	missense variant	-	NC_000015.10:g.55546037C>A	TOPMed,gnomAD

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0035064	methylated histone binding	IDA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001822	kidney development	IBA
GO:0002244	hematopoietic progenitor cell differentiation	IEA
GO:0007289	spermatid nucleus differentiation	IBA
GO:0034504	protein localization to nucleus	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0060070	canonical Wnt signaling pathway	IEA
GO:1904837	beta-catenin-TCF complex assembly	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-195721	Signaling by WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-201722	Formation of the beta-catenin:TCF transactivating complex	TAS
R-HSA-3769402	Deactivation of the beta-catenin transactivating complex	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of PYGO1 mRNA	19114083
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PYGO1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PYGO1 mRNA	27188386
D020106	Acrylamide	Acrylamide results in decreased expression of PYGO1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of PYGO1 mRNA	22100608
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PYGO1 intron	30157460
D000638	Amiodarone	Amiodarone results in increased expression of PYGO1 mRNA	19774075
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PYGO1 mRNA	24449571
D001564	Benzo(a)pyrene	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of PYGO1 mRNA]	22228805
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PYGO1 mRNA	22228805
C006780	bisphenol A	bisphenol A results in decreased expression of PYGO1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of PYGO1 mRNA	30816183
C018475	butyraldehyde	butyraldehyde results in decreased expression of PYGO1 mRNA	26079696
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PYGO1 gene	20938992
D000077209	Decitabine	Decitabine results in decreased expression of PYGO1 mRNA	27915011
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of PYGO1 mRNA	29581250
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PYGO1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PYGO1 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of PYGO1 mRNA	30165855
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PYGO1 mRNA	29097150
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PYGO1 gene	20938992
C001277	geldanamycin	geldanamycin results in increased expression of PYGO1 mRNA	26705709
C544151	jinfukang	jinfukang results in decreased expression of PYGO1 mRNA	27392435
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PYGO1 gene	20938992
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PYGO1 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of PYGO1 mRNA	26272509
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PYGO1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of PYGO1 mRNA	26272509
D011374	Progesterone	Progesterone results in decreased expression of PYGO1 mRNA	19690047
D018030	Silver Compounds	Silver Compounds results in increased expression of PYGO1 mRNA	29703973
D000077210	Sunitinib	Sunitinib results in decreased expression of PYGO1 mRNA	31533062
D013629	Tamoxifen	Tamoxifen results in decreased expression of PYGO1 mRNA	25123088
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PYGO1 mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PYGO1 mRNA	28922406
C483909	torcetrapib	torcetrapib results in increased expression of PYGO1 mRNA	23228038
D014212	Tretinoin	Tretinoin results in increased expression of PYGO1 mRNA	23724009
D014635	Valproic Acid	Valproic Acid results in decreased expression of PYGO1 mRNA	23179753; 27188386; 28001369;
D014638	Vanadates	Vanadates results in decreased expression of PYGO1 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of PYGO1 gene	25560391
D000077337	Vorinostat	Vorinostat results in decreased expression of PYGO1 mRNA	27188386
D015032	Zinc	Zinc deficiency results in decreased expression of PYGO1 mRNA	18356318

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0879	Wnt signaling pathway
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR019786	Zinc_finger_PHD-type_CS
IPR011011	Znf_FYVE_PHD
IPR001965	Znf_PHD
IPR019787	Znf_PHD-finger
IPR013083	Znf_RING/FYVE/PHD

PROSITE

PROSITE ID	PROSITE Term
PS01359	ZF_PHD_1
PS50016	ZF_PHD_2

Pfam

Pfam ID	Pfam Term
PF00628	PHD

Gene: PYGO1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

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