CleftGeneDB-Search

Gene: ESRRG

Basic information

Tag	Content
Uniprot ID	P62508; A8K4I0; A8K6I2; B3KY84; E9PGB7; F8W8J3; O75454; O96021; Q68DA0; Q6P274; Q6PK28; Q6TS38; Q9R1F3; Q9UNJ4;
Entrez ID	2104
Genbank protein ID	BAA74855.2; AAC39899.1; AAC99410.1; BAF83634.1; AAS00098.1; AAQ93381.1; CAH18320.1; AAQ93379.1; BAF83717.1; AAQ93380.1; AAQ93378.1; EAW93335.1; BAG54746.1; BAF84336.1; AAQ93376.1; AAQ93377.1; AAD48370.1; AAH64700.1; AAH08218.1;
Genbank nucleotide ID	XM_017000631.1; XM_017000644.1; NM_001243515.1; XM_011509275.1; XM_011509278.1; XM_017000648.1; NM_206594.2; XM_011509277.1; NM_001243514.1; XM_011509274.1; XM_017000643.1; XM_017000638.1; NM_001243510.2; NM_001243507.1; XM_017000642.1; XM_017000633.1; NM_001243519.1; XM_011509276.1; XM_017000636.1; NM_001243505.1; XM_017000640.1; NM_001243506.1; NM_001243511.2; NM_001243513.1; XM_017000646.1; XM_017000645.1; XM_017000649.1; XM_011509267.1; NM_001243509.1; XM_017000634.1; NM_001243512.1; XM_011509280.2; NM_206595.2; XM_011509269.2; NM_001438.3; XM_017000639.1; NM_001243518.1; NM_001134285.2; XM_011509279.1; XM_017000637.1; XM_011509268.2; XM_017000635.1; XM_017000641.1; XM_017000632.1; XM_017000647.1;
Ensembl protein ID	ENSP00000418629; ENSP00000419155; ENSP00000355904; ENSP00000500992; ENSP00000352077; ENSP00000355907; ENSP00000355225; ENSP00000375761; ENSP00000353108; ENSP00000354584; ENSP00000355905; ENSP00000419594; ENSP00000481528; ENSP00000386171; ENSP00000417374;
Ensembl nucleotide ID	ENSG00000196482
Gene name	Estrogen-related receptor gamma
Gene symbol	ESRRG
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	29535761
Functional description	Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expression of PERM1 in the skeletal muscle.
Sequence	MDSVELCLPE SFSLHYEEEL LCRMSNKDRH IDSSCSSFIK TEPSSPASLT DSVNHHSPGG 60 SSDASGSYSS TMNGHQNGLD SPPLYPSAPI LGGSGPVRKL YDDCSSTIVE DPQTKCEYML 120 NSMPKRLCLV CGDIASGYHY GVASCEACKA FFKRTIQGNI EYSCPATNEC EITKRRRKSC 180 QACRFMKCLK VGMLKEGVRL DRVRGGRQKY KRRIDAENSP YLNPQLVQPA KKPYNKIVSH 240 LLVAEPEKIY AMPDPTVPDS DIKALTTLCD LADRELVVII GWAKHIPGFS TLSLADQMSL 300 LQSAWMEILI LGVVYRSLSF EDELVYADDY IMDEDQSKLA GLLDLNNAIL QLVKKYKSMK 360 LEKEEFVTLK AIALANSDSM HIEDVEAVQK LQDVLHEALQ DYEAGQHMED PRRAGKMLMT 420 LPLLRQTSTK AVQHFYNIKL EGKVPMHKLF LEMLEAKV 458

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
1KV6
1TFC
1VJB
2E2R
2EWP
2GP7
2GPO
2GPP
2GPU
2GPV
2P7A
2P7G
2P7Z
2ZAS
2ZBS
2ZKC
5YSO
6A6K
6I61
6I62
6I63
6I64
6I65
6I66
6I67
1TFC

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	ESRRG	478961	J9NWD9	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ESRRG		A0A452FEX0	Capra hircus	Prediction	More>>
1:1 ortholog	ESRRG	2104	P62508	Homo sapiens	Publication	More>>
1:1 ortholog	Esrrg	26381	P62509	Mus musculus	Prediction	More>>
1:1 ortholog	ESRRG	457738	A0A2I3T916	Pan troglodytes	Prediction	More>>
1:1 ortholog	ESRRG	100355568	G1SEH2	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Esrrg	360896	P62510	Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
ESRRG	rs11117745	GWAS	29535761
ESRRG	rs1339221;	GWAS	29535761

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1453652160	p.Asp2Gly	missense variant	-	NC_000001.11:g.216723295T>C	gnomAD
rs1260342254	p.Ser3Leu	missense variant	-	NC_000001.11:g.216723292G>A	TOPMed,gnomAD
rs1381782847	p.Val4Leu	missense variant	-	NC_000001.11:g.216723290C>A	TOPMed
NCI-TCGA novel	p.Glu5Lys	missense variant	-	NC_000001.11:g.216723287C>T	NCI-TCGA
rs753168939	p.Leu6Phe	missense variant	-	NC_000001.11:g.216723284G>A	ExAC,TOPMed,gnomAD
rs753168939	p.Leu6Val	missense variant	-	NC_000001.11:g.216723284G>C	ExAC,TOPMed,gnomAD
rs779481832	p.Pro9His	missense variant	-	NC_000001.11:g.216723274G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Phe12Leu	missense variant	-	NC_000001.11:g.216723264A>C	NCI-TCGA
rs1268215854	p.Phe12Leu	missense variant	-	NC_000001.11:g.216723264A>T	gnomAD
rs765802592	p.Ser13Pro	missense variant	-	NC_000001.11:g.216723263A>G	ExAC,gnomAD
rs1282220595	p.Leu14Gln	missense variant	-	NC_000001.11:g.216723259A>T	TOPMed,gnomAD
rs1282220595	p.Leu14Pro	missense variant	-	NC_000001.11:g.216723259A>G	TOPMed,gnomAD
rs771206130	p.His15Tyr	missense variant	-	NC_000001.11:g.216723257G>A	ExAC,gnomAD
rs771206130	p.His15Asn	missense variant	-	NC_000001.11:g.216723257G>T	ExAC,gnomAD
rs761486279	p.Tyr16Ter	stop gained	-	NC_000001.11:g.216723252G>T	ExAC,TOPMed,gnomAD
rs573749790	p.Glu17Lys	missense variant	-	NC_000001.11:g.216723251C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu17Ter	stop gained	-	NC_000001.11:g.216723251C>A	NCI-TCGA
rs573749790	p.Glu17Gln	missense variant	-	NC_000001.11:g.216723251C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs972031090	p.Glu18Lys	missense variant	-	NC_000001.11:g.216723248C>T	TOPMed
rs972031090	p.Glu18Gln	missense variant	-	NC_000001.11:g.216723248C>G	TOPMed
COSM290649	p.Glu19Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216723244T>C	NCI-TCGA Cosmic
COSM425326	p.Glu19Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216723245C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu19Lys	missense variant	-	NC_000001.11:g.216723245C>T	NCI-TCGA
rs1331544359	p.Cys22Tyr	missense variant	-	NC_000001.11:g.216677483C>T	gnomAD
rs1281591694	p.Met24Val	missense variant	-	NC_000001.11:g.216677478T>C	gnomAD
rs1386623374	p.Met24Ile	missense variant	-	NC_000001.11:g.216677476C>A	gnomAD
rs779156008	p.Ser25Pro	missense variant	-	NC_000001.11:g.216677475A>G	ExAC,TOPMed,gnomAD
rs768751167	p.Asn26Asp	missense variant	-	NC_000001.11:g.216677472T>C	ExAC,TOPMed,gnomAD
rs749396484	p.Asn26Lys	missense variant	-	NC_000001.11:g.216677470G>T	ExAC,gnomAD
rs780194226	p.Lys27Arg	missense variant	-	NC_000001.11:g.216677468T>C	ExAC,TOPMed,gnomAD
COSM5280065	p.Asp28Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677466C>T	NCI-TCGA Cosmic
rs1360236618	p.Asp28Gly	missense variant	-	NC_000001.11:g.216677465T>C	TOPMed
rs756510778	p.Arg29Gln	missense variant	-	NC_000001.11:g.216677462C>T	ExAC,gnomAD
COSM5845495	p.Arg29Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216677463G>A	NCI-TCGA Cosmic
rs750997414	p.Ile31Val	missense variant	-	NC_000001.11:g.216677457T>C	ExAC,gnomAD
rs781648588	p.Ile31Thr	missense variant	-	NC_000001.11:g.216677456A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp32Asn	missense variant	-	NC_000001.11:g.216677454C>T	NCI-TCGA
COSM4401510	p.Ser33Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677450G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser34ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.216677449_216677450insTT	NCI-TCGA
rs1425611774	p.Cys35Tyr	missense variant	-	NC_000001.11:g.216677444C>T	TOPMed,gnomAD
rs1425611774	p.Cys35Ser	missense variant	-	NC_000001.11:g.216677444C>G	TOPMed,gnomAD
COSM414627	p.Ser36Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677442A>G	NCI-TCGA Cosmic
rs149827805	p.Ser36Leu	missense variant	-	NC_000001.11:g.216677441G>A	ESP,ExAC,TOPMed,gnomAD
rs764861816	p.Ser37Phe	missense variant	-	NC_000001.11:g.216677438G>A	ExAC,gnomAD
rs1247313691	p.Ser37Thr	missense variant	-	NC_000001.11:g.216677439A>T	gnomAD
rs759070220	p.Ile39Val	missense variant	-	NC_000001.11:g.216677433T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys40Asn	missense variant	-	NC_000001.11:g.216677428C>G	NCI-TCGA
rs753231523	p.Thr41Met	missense variant	-	NC_000001.11:g.216677426G>A	ExAC,TOPMed,gnomAD
COSM4858919	p.Glu42Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677424C>G	NCI-TCGA Cosmic
rs773155899	p.Pro43Ser	missense variant	-	NC_000001.11:g.216677421G>A	ExAC,TOPMed,gnomAD
rs773155899	p.Pro43Ala	missense variant	-	NC_000001.11:g.216677421G>C	ExAC,TOPMed,gnomAD
rs773155899	p.Pro43Thr	missense variant	-	NC_000001.11:g.216677421G>T	ExAC,TOPMed,gnomAD
rs771833321	p.Pro43Leu	missense variant	-	NC_000001.11:g.216677420G>A	ExAC,gnomAD
COSM425325	p.Pro46Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677412G>T	NCI-TCGA Cosmic
rs375119868	p.Ala47Val	missense variant	-	NC_000001.11:g.216677408G>A	ESP,ExAC,TOPMed,gnomAD
COSM6124225	p.Ala47Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677409C>A	NCI-TCGA Cosmic
rs1435255843	p.Ser48Phe	missense variant	-	NC_000001.11:g.216677405G>A	gnomAD
rs1030492080	p.Thr50Ser	missense variant	-	NC_000001.11:g.216677400T>A	TOPMed,gnomAD
rs11572693	p.Thr50Met	missense variant	-	NC_000001.11:g.216677399G>A	UniProt,dbSNP
VAR_019229	p.Thr50Met	missense variant	-	NC_000001.11:g.216677399G>A	UniProt
rs11572693	p.Thr50Met	missense variant	-	NC_000001.11:g.216677399G>A	ExAC,TOPMed,gnomAD
rs1343867107	p.Ser52Ile	missense variant	-	NC_000001.11:g.216677393C>A	TOPMed
NCI-TCGA novel	p.Ser52Asn	missense variant	-	NC_000001.11:g.216677393C>T	NCI-TCGA
rs199995809	p.Val53Ile	missense variant	-	NC_000001.11:g.216677391C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser57Arg	insertion	-	NC_000001.11:g.216677375_216677376insGGC	NCI-TCGA
rs1451183108	p.Gly60Asp	missense variant	-	NC_000001.11:g.216677369C>T	gnomAD
rs1189135819	p.Gly60Cys	missense variant	-	NC_000001.11:g.216677370C>A	gnomAD
rs1043414431	p.Ser61Tyr	missense variant	-	NC_000001.11:g.216677366G>T	gnomAD
rs1043414431	p.Ser61Phe	missense variant	-	NC_000001.11:g.216677366G>A	gnomAD
rs1281353824	p.Asp63Asn	missense variant	-	NC_000001.11:g.216677361C>T	TOPMed
rs141125727	p.Ala64Thr	missense variant	-	NC_000001.11:g.216677358C>T	ESP,ExAC,TOPMed,gnomAD
COSM4860276	p.Gly66Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677351C>A	NCI-TCGA Cosmic
COSM4920737	p.Gly66Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677352C>T	NCI-TCGA Cosmic
rs1231258999	p.Ser69Gly	missense variant	-	NC_000001.11:g.216677343T>C	gnomAD
rs1381146333	p.Thr71Ala	missense variant	-	NC_000001.11:g.216677337T>C	gnomAD
rs1204090774	p.Thr71Ile	missense variant	-	NC_000001.11:g.216677336G>A	TOPMed
COSM4875258	p.Met72Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677333A>G	NCI-TCGA Cosmic
rs753562164	p.Gly74Val	missense variant	-	NC_000001.11:g.216677327C>A	ExAC,TOPMed,gnomAD
rs753562164	p.Gly74Asp	missense variant	-	NC_000001.11:g.216677327C>T	ExAC,TOPMed,gnomAD
rs765761272	p.His75Gln	missense variant	-	NC_000001.11:g.216677323A>T	ExAC,gnomAD
rs760228315	p.Asn77Lys	missense variant	-	NC_000001.11:g.216677317G>T	ExAC,TOPMed,gnomAD
rs750331242	p.Gly78Arg	missense variant	-	NC_000001.11:g.216677316C>T	ExAC,gnomAD
COSM4028275	p.Gly78Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216677316C>A	NCI-TCGA Cosmic
COSM3483720	p.Gly78Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677315C>T	NCI-TCGA Cosmic
rs1363931948	p.Leu79Phe	missense variant	-	NC_000001.11:g.216677313G>A	TOPMed
COSM4028273	p.Leu79Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677312A>C	NCI-TCGA Cosmic
rs1469175816	p.Asp80Gly	missense variant	-	NC_000001.11:g.216677309T>C	TOPMed
rs761583933	p.Ser81Leu	missense variant	-	NC_000001.11:g.216677306G>A	ExAC,TOPMed,gnomAD
COSM1338894	p.Pro82Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677303G>A	NCI-TCGA Cosmic
rs1405723810	p.Pro83Ser	missense variant	-	NC_000001.11:g.216677301G>A	TOPMed
COSM4028271	p.Pro83Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677300G>A	NCI-TCGA Cosmic
rs1366606146	p.Leu84Val	missense variant	-	NC_000001.11:g.216677298G>C	TOPMed,gnomAD
rs1424450808	p.Pro89Ser	missense variant	-	NC_000001.11:g.216677283G>A	gnomAD
COSM3483718	p.Pro89Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677282G>A	NCI-TCGA Cosmic
rs775830011	p.Ile90Val	missense variant	-	NC_000001.11:g.216677280T>C	ExAC,gnomAD
rs1044865582	p.Gly92Ala	missense variant	-	NC_000001.11:g.216677273C>G	TOPMed
rs1044865582	p.Gly92Glu	missense variant	-	NC_000001.11:g.216677273C>T	TOPMed
COSM4862815	p.Gly92Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677274C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly92GluPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.216677273C>-	NCI-TCGA
COSM4860941	p.Gly93Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677271C>A	NCI-TCGA Cosmic
rs769959488	p.Ser94Gly	missense variant	-	NC_000001.11:g.216677268T>C	ExAC,gnomAD
COSM3483714	p.Ser94Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677267C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly95Trp	missense variant	-	NC_000001.11:g.216677265C>A	NCI-TCGA
rs746008005	p.Gly95Glu	missense variant	-	NC_000001.11:g.216677264C>T	ExAC,gnomAD
rs948860619	p.Pro96Thr	missense variant	-	NC_000001.11:g.216677262G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg98Lys	missense variant	-	NC_000001.11:g.216677255C>T	NCI-TCGA
rs777963595	p.Tyr101Ter	stop gained	-	NC_000001.11:g.216677245A>C	ExAC,gnomAD
rs201364177	p.Asp102Gly	missense variant	-	NC_000001.11:g.216677243T>C	1000Genomes
rs1321791080	p.Asp102Asn	missense variant	-	NC_000001.11:g.216677244C>T	gnomAD
COSM1958554	p.Asp103Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677241C>T	NCI-TCGA Cosmic
rs1407629514	p.Ser105Thr	missense variant	-	NC_000001.11:g.216677235A>T	gnomAD
rs758817078	p.Ser105Tyr	missense variant	-	NC_000001.11:g.216677234G>T	ExAC,gnomAD
COSM4028269	p.Ser106Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677232T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser106Asn	missense variant	-	NC_000001.11:g.216677231C>T	NCI-TCGA
rs1308442598	p.Thr107Asn	missense variant	-	NC_000001.11:g.216677228G>T	gnomAD
rs748870142	p.Ile108Thr	missense variant	-	NC_000001.11:g.216677225A>G	ExAC,TOPMed,gnomAD
rs1321135889	p.Glu110Gly	missense variant	-	NC_000001.11:g.216677219T>C	TOPMed
NCI-TCGA novel	p.Glu110IleCysLeuCysProPheLysLeuValIleTyr	insertion	-	NC_000001.11:g.216677217_216677218insGTAGATTACCAGTTTAAAAGGGCATAAACAAAT	NCI-TCGA
rs779796920	p.Glu110Lys	missense variant	-	NC_000001.11:g.216677220C>T	ExAC,gnomAD
rs1162572337	p.Pro112Leu	missense variant	-	NC_000001.11:g.216677213G>A	gnomAD
NCI-TCGA novel	p.Pro112Ala	missense variant	-	NC_000001.11:g.216677214G>C	NCI-TCGA
NCI-TCGA novel	p.Pro112Ser	missense variant	-	NC_000001.11:g.216677214G>A	NCI-TCGA
NCI-TCGA novel	p.Gln113Ter	stop gained	-	NC_000001.11:g.216677211G>A	NCI-TCGA
NCI-TCGA novel	p.Gln113Leu	missense variant	-	NC_000001.11:g.216677210T>A	NCI-TCGA
rs909475660	p.Thr114Pro	missense variant	-	NC_000001.11:g.216677208T>G	TOPMed
rs755617893	p.Lys115Asn	missense variant	-	NC_000001.11:g.216677203C>G	ExAC,gnomAD
NCI-TCGA novel	p.Met119Ile	missense variant	-	NC_000001.11:g.216677191C>T	NCI-TCGA
COSM1251517	p.Asn121Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677186T>G	NCI-TCGA Cosmic
rs749995633	p.Asn121Ser	missense variant	-	NC_000001.11:g.216677186T>C	ExAC,gnomAD
rs984154691	p.Ser122Leu	missense variant	-	NC_000001.11:g.216677183G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser122Ter	stop gained	-	NC_000001.11:g.216677183G>T	NCI-TCGA
NCI-TCGA novel	p.Met123Ile	missense variant	-	NC_000001.11:g.216677179C>T	NCI-TCGA
rs751537343	p.Lys125Arg	missense variant	-	NC_000001.11:g.216677174T>C	ExAC,TOPMed,gnomAD
rs1359013418	p.Leu127Pro	missense variant	-	NC_000001.11:g.216677168A>G	gnomAD
rs1210966198	p.Leu127Val	missense variant	-	NC_000001.11:g.216677169G>C	gnomAD
rs1359013418	p.Leu127Arg	missense variant	-	NC_000001.11:g.216677168A>C	gnomAD
NCI-TCGA novel	p.Leu129Ser	missense variant	-	NC_000001.11:g.216677162A>G	NCI-TCGA
NCI-TCGA novel	p.Asp133Glu	missense variant	-	NC_000001.11:g.216677149G>C	NCI-TCGA
rs745526622	p.Ile134Val	missense variant	-	NC_000001.11:g.216677148T>C	ExAC,TOPMed,gnomAD
COSM4028267	p.Ile134Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677147A>G	NCI-TCGA Cosmic
COSM1473409	p.Gly137Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677139C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr138Ter	stop gained	-	NC_000001.11:g.216677134G>C	NCI-TCGA
rs1387291735	p.Ala143Thr	missense variant	-	NC_000001.11:g.216677121C>T	TOPMed,gnomAD
COSM3483710	p.Ser144Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677117G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys145Tyr	missense variant	-	NC_000001.11:g.216677114C>T	NCI-TCGA
COSM4858742	p.Glu146Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677112C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys149Arg	missense variant	-	NC_000001.11:g.216677102T>C	NCI-TCGA
COSM1338891	p.Ala150Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677100C>T	NCI-TCGA Cosmic
COSM6061083	p.Gln157Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216677079G>A	NCI-TCGA Cosmic
rs1194634049	p.Ser163Gly	missense variant	-	NC_000001.11:g.216651075T>C	TOPMed,gnomAD
rs774655818	p.Thr167Met	missense variant	-	NC_000001.11:g.216651062G>A	ExAC,TOPMed,gnomAD
COSM3483708	p.Glu171Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651051C>T	NCI-TCGA Cosmic
COSM4862662	p.Thr173Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651044G>T	NCI-TCGA Cosmic
rs1365779917	p.Arg175Cys	missense variant	-	NC_000001.11:g.216651039G>A	TOPMed,gnomAD
rs746586110	p.Arg175His	missense variant	-	NC_000001.11:g.216651038C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys178Glu	missense variant	-	NC_000001.11:g.216651030T>C	NCI-TCGA
COSM6061085	p.Ser179Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651027A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys183Ser	missense variant	-	NC_000001.11:g.216651015A>T	NCI-TCGA
rs777160519	p.Arg184His	missense variant	-	NC_000001.11:g.216651011C>T	ExAC,gnomAD
COSM6061087	p.Arg184Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651012G>T	NCI-TCGA Cosmic
COSM4869544	p.Met186Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651004C>A	NCI-TCGA Cosmic
rs1369099726	p.Lys190Gln	missense variant	-	NC_000001.11:g.216650994T>G	gnomAD
rs1476998088	p.Arg199Cys	missense variant	-	NC_000001.11:g.216568093G>A	TOPMed
COSM1958540	p.Arg199His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216568092C>T	NCI-TCGA Cosmic
COSM4028265	p.Arg199Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216568093G>T	NCI-TCGA Cosmic
rs184409476	p.Arg204His	missense variant	-	NC_000001.11:g.216568077C>T	1000Genomes
NCI-TCGA novel	p.Arg204Cys	missense variant	-	NC_000001.11:g.216568078G>A	NCI-TCGA
rs866598529	p.Arg207Trp	missense variant	-	NC_000001.11:g.216568069G>A	gnomAD
rs757317087	p.Arg207Gln	missense variant	-	NC_000001.11:g.216568068C>T	ExAC
rs752053042	p.Gln208Lys	missense variant	-	NC_000001.11:g.216568066G>T	ExAC,gnomAD
rs764642258	p.Tyr210Cys	missense variant	-	NC_000001.11:g.216568059T>C	ExAC,gnomAD
COSM4861639	p.Tyr210Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216568058G>T	NCI-TCGA Cosmic
rs760328973	p.Arg212His	missense variant	-	NC_000001.11:g.216568053C>T	ExAC,TOPMed,gnomAD
rs775763985	p.Arg212Ser	missense variant	-	NC_000001.11:g.216568054G>T	ExAC,gnomAD
rs775763985	p.Arg212Cys	missense variant	-	NC_000001.11:g.216568054G>A	ExAC,gnomAD
rs760328973	p.Arg212Leu	missense variant	-	NC_000001.11:g.216568053C>A	ExAC,TOPMed,gnomAD
COSM4874083	p.Arg213Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216568049C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg213Met	missense variant	-	NC_000001.11:g.216568050C>A	NCI-TCGA
rs772791297	p.Ile214Val	missense variant	-	NC_000001.11:g.216568048T>C	ExAC
rs370360195	p.Ala216Val	missense variant	-	NC_000001.11:g.216568041G>A	ESP,ExAC,TOPMed,gnomAD
rs370360195	p.Ala216Gly	missense variant	-	NC_000001.11:g.216568041G>C	ESP,ExAC,TOPMed,gnomAD
rs370360195	p.Ala216Glu	missense variant	-	NC_000001.11:g.216568041G>T	ESP,ExAC,TOPMed,gnomAD
rs768660193	p.Glu217Asp	missense variant	-	NC_000001.11:g.216568037C>G	ExAC,TOPMed,gnomAD
rs1436424414	p.Glu217Gln	missense variant	-	NC_000001.11:g.216568039C>G	gnomAD
rs779860388	p.Tyr221His	missense variant	-	NC_000001.11:g.216568027A>G	ExAC,gnomAD
rs1472676949	p.Asn223Thr	missense variant	-	NC_000001.11:g.216568020T>G	gnomAD
rs201478526	p.Asn223Tyr	missense variant	-	NC_000001.11:g.216568021T>A	1000Genomes,ExAC
rs1409902413	p.Pro224Leu	missense variant	-	NC_000001.11:g.216568017G>A	gnomAD
NCI-TCGA novel	p.Pro224Arg	missense variant	-	NC_000001.11:g.216568017G>C	NCI-TCGA
NCI-TCGA novel	p.Pro224Thr	missense variant	-	NC_000001.11:g.216568018G>T	NCI-TCGA
rs1189192398	p.Leu226Val	missense variant	-	NC_000001.11:g.216568012G>C	gnomAD
rs1477674632	p.Leu226Gln	missense variant	-	NC_000001.11:g.216568011A>T	gnomAD
rs1247182076	p.Gln228Glu	missense variant	-	NC_000001.11:g.216568006G>C	gnomAD
rs781333180	p.Pro229Gln	missense variant	-	NC_000001.11:g.216568002G>T	ExAC,gnomAD
rs751580504	p.Lys231Thr	missense variant	-	NC_000001.11:g.216567996T>G	ExAC,TOPMed,gnomAD
rs79583553	p.Lys232Asn	missense variant	-	NC_000001.11:g.216567992C>A	ExAC,gnomAD
rs79583553	p.Lys232Asn	missense variant	-	NC_000001.11:g.216567992C>G	ExAC,gnomAD
rs1299686557	p.Pro233Ser	missense variant	-	NC_000001.11:g.216567991G>A	gnomAD
rs144069220	p.Tyr234Asn	missense variant	-	NC_000001.11:g.216567988A>T	ESP,ExAC,TOPMed,gnomAD
rs1203404952	p.Asn235Asp	missense variant	-	NC_000001.11:g.216564378T>C	gnomAD
NCI-TCGA novel	p.Ser239Ter	stop gained	-	NC_000001.11:g.216564365G>C	NCI-TCGA
rs761520035	p.Ser239Ala	missense variant	-	NC_000001.11:g.216564366A>C	ExAC,gnomAD
COSM280872	p.Leu241Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564360A>T	NCI-TCGA Cosmic
rs149670038	p.Leu242Val	missense variant	-	NC_000001.11:g.216564357A>C	ESP,ExAC,TOPMed,gnomAD
COSM4860078	p.Ala244Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564351C>G	NCI-TCGA Cosmic
rs763664788	p.Pro246Leu	missense variant	-	NC_000001.11:g.216564344G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro246Thr	missense variant	-	NC_000001.11:g.216564345G>T	NCI-TCGA
rs1395102544	p.Lys248Arg	missense variant	-	NC_000001.11:g.216564338T>C	gnomAD
rs201435029	p.Tyr250Cys	missense variant	-	NC_000001.11:g.216564332T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met252Ile	missense variant	-	NC_000001.11:g.216564325C>G	NCI-TCGA
rs1036013279	p.Met252Thr	missense variant	-	NC_000001.11:g.216564326A>G	TOPMed
rs1400967760	p.Pro253Leu	missense variant	-	NC_000001.11:g.216564323G>A	TOPMed
rs1314537875	p.Pro253Ser	missense variant	-	NC_000001.11:g.216564324G>A	gnomAD
COSM1295873	p.Asp254Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564321C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val257Ile	missense variant	-	NC_000001.11:g.216564312C>T	NCI-TCGA
rs200261491	p.Asp259Asn	missense variant	-	NC_000001.11:g.216564306C>T	1000Genomes,ExAC,gnomAD
rs770733689	p.Asp261His	missense variant	-	NC_000001.11:g.216564300C>G	ExAC,TOPMed,gnomAD
rs1294175256	p.Ile262Val	missense variant	-	NC_000001.11:g.216564297T>C	TOPMed
COSM4861540	p.Ile262Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564296A>G	NCI-TCGA Cosmic
rs747209048	p.Thr266Ala	missense variant	-	NC_000001.11:g.216564285T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu268Val	missense variant	-	NC_000001.11:g.216564279G>C	NCI-TCGA
COSM4028263	p.Cys269Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564276A>T	NCI-TCGA Cosmic
rs1246586332	p.Leu271Phe	missense variant	-	NC_000001.11:g.216564268C>G	TOPMed
rs970280342	p.Asp273Asn	missense variant	-	NC_000001.11:g.216564264C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asp273Tyr	missense variant	-	NC_000001.11:g.216564264C>A	NCI-TCGA
rs1265254562	p.Arg274Gln	missense variant	-	NC_000001.11:g.216564260C>T	TOPMed
rs748236147	p.Glu275Gln	missense variant	-	NC_000001.11:g.216564258C>G	ExAC,TOPMed,gnomAD
COSM4858853	p.Ile279Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564246T>C	NCI-TCGA Cosmic
rs754403371	p.Ile280Thr	missense variant	-	NC_000001.11:g.216564242A>G	ExAC,gnomAD
COSM3864513	p.Trp282Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216564235C>T	NCI-TCGA Cosmic
rs1243398576	p.Ala283Val	missense variant	-	NC_000001.11:g.216564233G>A	gnomAD
COSM6061093	p.His285Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564228G>T	NCI-TCGA Cosmic
rs756583718	p.Pro287Leu	missense variant	-	NC_000001.11:g.216564221G>A	ExAC,gnomAD
rs781691330	p.Gly288Ala	missense variant	-	NC_000001.11:g.216519421C>G	ExAC,TOPMed,gnomAD
rs781691330	p.Gly288Asp	missense variant	-	NC_000001.11:g.216519421C>T	ExAC,TOPMed,gnomAD
rs781691330	p.Gly288Val	missense variant	-	NC_000001.11:g.216519421C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe289Leu	missense variant	-	NC_000001.11:g.216519417G>T	NCI-TCGA
COSM4874899	p.Ser290Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519415G>A	NCI-TCGA Cosmic
rs371851129	p.Thr291Met	missense variant	-	NC_000001.11:g.216519412G>A	ESP,ExAC,TOPMed,gnomAD
COSM4681776	p.Leu292Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519410G>T	NCI-TCGA Cosmic
rs752416358	p.Ala295Glu	missense variant	-	NC_000001.11:g.216519400G>T	ExAC,TOPMed,gnomAD
rs752416358	p.Ala295Val	missense variant	-	NC_000001.11:g.216519400G>A	ExAC,TOPMed,gnomAD
COSM4028260	p.Met298Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519391A>C	NCI-TCGA Cosmic
rs754555777	p.Ser299Arg	missense variant	-	NC_000001.11:g.216519387G>C	ExAC,gnomAD
rs1158517684	p.Leu300Ile	missense variant	-	NC_000001.11:g.216519386G>T	TOPMed
rs760619098	p.Gln302His	missense variant	-	NC_000001.11:g.216519378C>G	ExAC,gnomAD
rs766363602	p.Gln302Ter	stop gained	-	NC_000001.11:g.216519380G>A	ExAC
rs772925003	p.Ser303Arg	missense variant	-	NC_000001.11:g.216519375A>C	ExAC,gnomAD
rs1254361401	p.Ser303Gly	missense variant	-	NC_000001.11:g.216519377T>C	gnomAD
rs772925003	p.Ser303Arg	missense variant	-	NC_000001.11:g.216519375A>C	NCI-TCGA,NCI-TCGA Cosmic
COSM903968	p.Trp305Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519369C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp305Cys	missense variant	-	NC_000001.11:g.216519369C>A	NCI-TCGA
rs767380807	p.Met306Val	missense variant	-	NC_000001.11:g.216519368T>C	ExAC,gnomAD
COSM1689864	p.Met306Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519366C>T	NCI-TCGA Cosmic
rs1284490715	p.Ile308Met	missense variant	-	NC_000001.11:g.216519360A>C	gnomAD
rs1284490715	p.Ile308Met	missense variant	-	NC_000001.11:g.216519360A>C	NCI-TCGA Cosmic
rs1206734214	p.Leu309Val	missense variant	-	NC_000001.11:g.216519359A>C	gnomAD
rs1206734214	p.Leu309Val	missense variant	-	NC_000001.11:g.216519359A>C	NCI-TCGA Cosmic
COSM4868530	p.Ile310Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519356T>C	NCI-TCGA Cosmic
rs768590148	p.Gly312Ser	missense variant	-	NC_000001.11:g.216519350C>T	ExAC,TOPMed,gnomAD
COSM6061095	p.Gly312Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519350C>G	NCI-TCGA Cosmic
rs1064199	p.Val313Ile	missense variant	-	NC_000001.11:g.216519347C>T	TOPMed
rs1064199	p.Val313Phe	missense variant	-	NC_000001.11:g.216519347C>A	TOPMed
rs1349900590	p.Val314Ile	missense variant	-	NC_000001.11:g.216519344C>T	gnomAD
rs1332797323	p.Val314Ala	missense variant	-	NC_000001.11:g.216519343A>G	TOPMed
rs1349900590	p.Val314Ile	missense variant	-	NC_000001.11:g.216519344C>T	NCI-TCGA
rs1295534816	p.Tyr315His	missense variant	-	NC_000001.11:g.216519341A>G	gnomAD
rs1443396687	p.Arg316Trp	missense variant	-	NC_000001.11:g.216519338G>A	TOPMed
rs775720774	p.Arg316Gln	missense variant	-	NC_000001.11:g.216519337C>T	ExAC,gnomAD
rs770354970	p.Ser319Ala	missense variant	-	NC_000001.11:g.216519329A>C	ExAC,gnomAD
rs866478481	p.Ser319Leu	missense variant	-	NC_000001.11:g.216519328G>A	TOPMed
rs866478481	p.Ser319Leu	missense variant	-	NC_000001.11:g.216519328G>A	NCI-TCGA Cosmic
rs1276131699	p.Glu323Gly	missense variant	-	NC_000001.11:g.216519316T>C	gnomAD
rs368438663	p.Val325Ile	missense variant	-	NC_000001.11:g.216519311C>T	ESP,ExAC,TOPMed,gnomAD
rs778694763	p.Ile331Thr	missense variant	-	NC_000001.11:g.216519292A>G	ExAC,TOPMed,gnomAD
COSM4028254	p.Ile331Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519293T>A	NCI-TCGA Cosmic
rs1242407337	p.Met332Lys	missense variant	-	NC_000001.11:g.216519289A>T	gnomAD
rs267598381	p.Glu334Lys	missense variant	-	NC_000001.11:g.216519284C>T	ExAC,TOPMed,gnomAD
rs267598381	p.Glu334Lys	missense variant	-	NC_000001.11:g.216519284C>T	NCI-TCGA,NCI-TCGA Cosmic
rs765878912	p.Asp335Val	missense variant	-	NC_000001.11:g.216519280T>A	ExAC,gnomAD
rs756008892	p.Gln336Lys	missense variant	-	NC_000001.11:g.216519278G>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys338Arg	missense variant	-	NC_000001.11:g.216519271T>C	NCI-TCGA
COSM4873316	p.Gly341Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519263C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu343Ile	missense variant	-	NC_000001.11:g.216519257G>T	NCI-TCGA
rs374379737	p.Asp344Gly	missense variant	-	NC_000001.11:g.216519253T>C	ESP,TOPMed
rs1288208522	p.Asn346Ser	missense variant	-	NC_000001.11:g.216519247T>C	gnomAD
rs370879764	p.Ile349Val	missense variant	-	NC_000001.11:g.216519239T>C	TOPMed,gnomAD
COSM3418759	p.Val353Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519227C>A	NCI-TCGA Cosmic
rs761711106	p.Lys354Glu	missense variant	-	NC_000001.11:g.216519224T>C	ExAC,gnomAD
rs1430017283	p.Tyr356Cys	missense variant	-	NC_000001.11:g.216519217T>C	TOPMed
rs1430017283	p.Tyr356Cys	missense variant	-	NC_000001.11:g.216519217T>C	NCI-TCGA
RCV000766138	p.Tyr356Cys	missense variant	-	NC_000001.11:g.216519217T>C	ClinVar
rs1355017212	p.Met359Thr	missense variant	-	NC_000001.11:g.216519208A>G	gnomAD
NCI-TCGA novel	p.Met359Ile	missense variant	-	NC_000001.11:g.216519207C>T	NCI-TCGA
COSM256875	p.Lys360Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519206T>C	NCI-TCGA Cosmic
COSM1689862	p.Glu362Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519200C>T	NCI-TCGA Cosmic
rs138701648	p.Lys363Glu	missense variant	-	NC_000001.11:g.216519197T>C	ESP,ExAC
NCI-TCGA novel	p.Glu364Gln	missense variant	-	NC_000001.11:g.216519194C>G	NCI-TCGA
rs1313915177	p.Glu365Lys	missense variant	-	NC_000001.11:g.216519191C>T	gnomAD
COSM3483703	p.Leu369Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519179G>A	NCI-TCGA Cosmic
rs1416987858	p.Lys370Gln	missense variant	-	NC_000001.11:g.216519176T>G	gnomAD
rs764316284	p.Ala373Val	missense variant	-	NC_000001.11:g.216519166G>A	ExAC,TOPMed,gnomAD
rs994779706	p.Ser379Cys	missense variant	-	NC_000001.11:g.216507180G>C	TOPMed
rs1468085364	p.Met380Thr	missense variant	-	NC_000001.11:g.216507177A>G	gnomAD
rs763823306	p.His381Asn	missense variant	-	NC_000001.11:g.216507175G>T	ExAC,gnomAD
rs763216993	p.Ile382Thr	missense variant	-	NC_000001.11:g.216507171A>G	ExAC,gnomAD
rs1215799375	p.Ile382Leu	missense variant	-	NC_000001.11:g.216507172T>A	gnomAD
rs753016428	p.Val385Ala	missense variant	-	NC_000001.11:g.216507162A>G	ExAC,gnomAD
rs1303681282	p.Val385Ile	missense variant	-	NC_000001.11:g.216507163C>T	TOPMed
NCI-TCGA novel	p.Val385Phe	missense variant	-	NC_000001.11:g.216507163C>A	NCI-TCGA
rs765374487	p.Glu386Ala	missense variant	-	NC_000001.11:g.216507159T>G	ExAC,TOPMed,gnomAD
rs141423098	p.Val388Ile	missense variant	-	NC_000001.11:g.216507154C>T	NCI-TCGA,NCI-TCGA Cosmic
rs141423098	p.Val388Phe	missense variant	-	NC_000001.11:g.216507154C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141423098	p.Val388Ile	missense variant	-	NC_000001.11:g.216507154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1203770683	p.Gln392Arg	missense variant	-	NC_000001.11:g.216507141T>C	gnomAD
rs761091969	p.Val394Ile	missense variant	-	NC_000001.11:g.216507136C>T	ExAC,gnomAD
rs1327852196	p.Val394Ala	missense variant	-	NC_000001.11:g.216507135A>G	TOPMed,gnomAD
rs779724222	p.Ala398Val	missense variant	-	NC_000001.11:g.216507123G>A	ExAC,TOPMed,gnomAD
rs748920741	p.Ala398Thr	missense variant	-	NC_000001.11:g.216507124C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala398Glu	missense variant	-	NC_000001.11:g.216507123G>T	NCI-TCGA
rs748920741	p.Ala398Thr	missense variant	-	NC_000001.11:g.216507124C>T	NCI-TCGA
rs779724222	p.Ala398Val	missense variant	-	NC_000001.11:g.216507123G>A	NCI-TCGA
rs1189401364	p.Gln400Arg	missense variant	-	NC_000001.11:g.216507117T>C	gnomAD
COSM4871824	p.Tyr402His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216507112A>G	NCI-TCGA Cosmic
rs1195535339	p.Met408Val	missense variant	-	NC_000001.11:g.216507094T>C	TOPMed,gnomAD
COSM3864511	p.Glu409Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216507091C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp410Tyr	missense variant	-	NC_000001.11:g.216507088C>A	NCI-TCGA
rs777601840	p.Arg412Cys	missense variant	-	NC_000001.11:g.216507082G>A	ExAC,gnomAD
rs1217025239	p.Arg412His	missense variant	-	NC_000001.11:g.216507081C>T	TOPMed,gnomAD
rs1217025239	p.Arg412His	missense variant	-	NC_000001.11:g.216507081C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg412Ser	missense variant	-	NC_000001.11:g.216507082G>T	NCI-TCGA
rs1175042812	p.Arg413Ter	stop gained	-	NC_000001.11:g.216507079G>A	NCI-TCGA Cosmic
rs1319112255	p.Arg413Gln	missense variant	-	NC_000001.11:g.216507078C>T	NCI-TCGA
rs1319112255	p.Arg413Gln	missense variant	-	NC_000001.11:g.216507078C>T	gnomAD
rs1175042812	p.Arg413Ter	stop gained	-	NC_000001.11:g.216507079G>A	TOPMed
NCI-TCGA novel	p.Ala414Pro	missense variant	-	NC_000001.11:g.216507076C>G	NCI-TCGA
rs1234232225	p.Met417Ile	missense variant	-	NC_000001.11:g.216507065C>A	gnomAD
COSM4864152	p.Met419Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216507059C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys430Asn	missense variant	-	NC_000001.11:g.216507026C>A	NCI-TCGA
rs1287921361	p.Lys430Arg	missense variant	-	NC_000001.11:g.216507027T>C	gnomAD
rs1430921691	p.Ala431Val	missense variant	-	NC_000001.11:g.216507024G>A	NCI-TCGA
rs1430921691	p.Ala431Val	missense variant	-	NC_000001.11:g.216507024G>A	gnomAD
rs1171465044	p.Val432Met	missense variant	-	NC_000001.11:g.216507022C>T	TOPMed,gnomAD
rs1343852674	p.Tyr436Cys	missense variant	-	NC_000001.11:g.216507009T>C	TOPMed
rs1338874641	p.Asn437His	missense variant	-	NC_000001.11:g.216507007T>G	TOPMed,gnomAD
rs1213269380	p.Lys439Asn	missense variant	-	NC_000001.11:g.216506999T>A	TOPMed
NCI-TCGA novel	p.Gly442Cys	missense variant	-	NC_000001.11:g.216506992C>A	NCI-TCGA
rs1156920483	p.Gly442Asp	missense variant	-	NC_000001.11:g.216506991C>T	gnomAD
COSM4872313	p.Lys443Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216506988T>C	NCI-TCGA Cosmic
rs1272932911	p.Met446Val	missense variant	-	NC_000001.11:g.216506980T>C	TOPMed
COSM4612865	p.Leu451TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216506964A>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu451PhePheSerTerUnkUnk	frameshift	-	NC_000001.11:g.216506963_216506964insA	NCI-TCGA
rs1198308881	p.Glu455Gln	missense variant	-	NC_000001.11:g.216506953C>G	TOPMed
rs1408576320	p.Ala456Ser	missense variant	-	NC_000001.11:g.216506950C>A	gnomAD
COSM1338888	p.Lys457Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216506946T>G	NCI-TCGA Cosmic
COSM4028248	p.Lys457Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216506946T>C	NCI-TCGA Cosmic
rs761196018	p.Val458Phe	missense variant	-	NC_000001.11:g.216506944C>A	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	LHGDN
C0001948	Alcohol consumption	phenotype	GWASCAT
C0003130	Anoxia	phenotype	LHGDN
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0016529	Forced expiratory volume function	phenotype	GWASCAT
C0017638	Glioma	disease	BEFREE
C0020456	Hyperglycemia	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE
C0021704	Intelligence	phenotype	GWASCAT
C0028754	Obesity	disease	BEFREE
C0263630	Hypertrophic disorder of skin, unspecified	group	BEFREE
C0428886	Mean blood pressure	phenotype	GWASCAT
C0678222	Breast Carcinoma	disease	BEFREE;GWASCAT
C1383860	Cardiac Hypertrophy	phenotype	GWASCAT;GWASDB
C1611184	Calcification of coronary artery	phenotype	GWASDB
C1863416	Autosomal dominant compelling helio ophthalmic outburst syndrome	disease	GWASCAT
C2239176	Liver carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003707	steroid hormone receptor activity	IEA
GO:0004879	nuclear receptor activity	IEA
GO:0005496	steroid binding	IEA
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA
GO:0050682	AF-2 domain binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006355	regulation of transcription, DNA-templated	IDA
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS
GO:0043401	steroid hormone mediated signaling pathway	IEA
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048384	retinoic acid receptor signaling pathway	IEA
GO:0120162	positive regulation of cold-induced thermogenesis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-383280	Nuclear Receptor transcription pathway	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C006718	1,12-benzoperylene	1,12-benzoperylene results in increased expression of ESRRG mRNA	26377693
C517113	1,1-bis(4-hydroxyphenyl)cyclohexane	1,1-bis(4-hydroxyphenyl)cyclohexane inhibits the reaction [bisphenol A binds to ESRRG protein]	31195007
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of ESRRG mRNA	19933214
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [bisphenol A results in increased expression of ESRRG mRNA]	27038254
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [bisphenol A results in increased expression of ESRRG protein]	26363202; 27038254;
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane binds to and results in increased activity of ESRRG protein	31127318
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane inhibits the reaction [ binds to and results in decreased activity of ESRRG protein]	31127318
C056559	2,4-di-tert-butylphenol	2,4-di-tert-butylphenol results in increased activity of ESRRG protein	31127318
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [bisphenol A results in increased expression of ESRRG mRNA]	27038254
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [bisphenol A results in increased expression of ESRRG protein]	27038254
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of ESRRG mRNA	23196670
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 increased expression of ESRRG mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRRG mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRRG mRNA	27188386
C568862	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline affects the localization of ESRRG protein	31126612
C516284	4-cumylphenol	4-cumylphenol analog binds to ESRRG protein	18582436
C516284	4-cumylphenol	4-cumylphenol results in increased activity of ESRRG protein	31127318
C042291	4-ethylphenol	4-ethylphenol results in increased activity of ESRRG protein	31127318
C062262	4-hydroxytoremifene	4-hydroxytoremifene results in decreased activity of ESRRG protein	15149736
C062262	4-hydroxytoremifene	4-hydroxytoremifene binds to and results in decreased activity of ESRRG protein	16515477
C028690	4-isopropylphenol	4-isopropylphenol binds to and results in increased activity of ESRRG protein	31127318
C028690	4-isopropylphenol	4-isopropylphenol binds to ESRRG protein	27486708
C028690	4-isopropylphenol	4-isopropylphenol inhibits the reaction [ binds to and results in decreased activity of ESRRG protein]	31127318
C105260	4-tert-octylphenol	4-tert-octylphenol results in increased activity of ESRRG protein	31127318
C043496	5,6,7,8-tetrahydro-2-naphthol	5,6,7,8-tetrahydro-2-naphthol binds to and results in increased activity of ESRRG protein	31127318
C043496	5,6,7,8-tetrahydro-2-naphthol	5,6,7,8-tetrahydro-2-naphthol inhibits the reaction [ binds to and results in decreased activity of ESRRG protein]	31127318
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of ESRRG mRNA	22079614
D000082	Acetaminophen	Acetaminophen results in decreased expression of ESRRG mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of ESRRG mRNA	17562736
C016601	afimoxifene	afimoxifene binds to and affects the activity of ESRRG protein	16889744
C016601	afimoxifene	afimoxifene binds to and results in decreased activity of ESRRG protein	11447273; 14751226; 17049190; 18197296; 23583298;
C016601	afimoxifene	afimoxifene binds to and results in decreased activity of [ESRRG protein binds to ESRRA protein]	14751226
C016601	afimoxifene	afimoxifene binds to ESRRG protein	17964775; 20542892;
C016601	afimoxifene	afimoxifene inhibits the reaction [ESRRG protein binds to NCOA1 protein]	11447273
C016601	afimoxifene	afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]	23583298
C016601	afimoxifene	afimoxifene inhibits the reaction [PPARGC1A protein binds to ESRRG protein]	16889744
C016601	afimoxifene	afimoxifene results in decreased activity of ESRRG protein	15149736
C016601	afimoxifene	benzylparaben inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C016601	afimoxifene	bisphenol A inhibits the reaction [afimoxifene binds to and results in decreased activity of ESRRG protein]	18197296
C016601	afimoxifene	bisphenol A inhibits the reaction [afimoxifene binds to ESRRG protein]	17964775
C016601	afimoxifene	bisphenol A inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C016601	afimoxifene	butylparaben inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C016601	afimoxifene	chlorocresol inhibits the reaction [afimoxifene binds to ESRRG protein]	17964775
C016601	afimoxifene	ethyl-p-hydroxybenzoate inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C016601	afimoxifene	ethyl salicylate inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C016601	afimoxifene	methylparaben inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C016601	afimoxifene	methyl salicylate inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C016601	afimoxifene	propylparaben inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C016601	afimoxifene	afimoxifene binds to and results in decreased activity of ESRRG protein	15161930
C016601	afimoxifene	afimoxifene binds to and results in decreased activity of ESRRG protein	23645310
C016601	afimoxifene	afimoxifene inhibits the reaction [bisphenol A binds to and results in increased activity of ESRRG protein]	23645310
C016601	afimoxifene	afimoxifene binds to and results in decreased activity of ESRRG protein	16515477
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of ESRRG protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of ESRRG gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of ESRRG intron	30157460
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of ESRRG mRNA	21298039
C119325	arachidonyl-2-chloroethylamide	arachidonyl-2-chloroethylamide results in increased expression of ESRRG protein	30019168
D001151	Arsenic	Arsenic affects the methylation of ESRRG gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of ESRRG mRNA	20458559
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the expression of ESRRG mRNA	17331233
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in decreased methylation of ESRRG 5' UTR	29523930
D001280	Atrazine	Atrazine affects the methylation of ESRRG gene	28931070
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of ESRRG intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ESRRG mRNA	20106945
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the reaction [AHR protein binds to ESRRG promoter]	19654925
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of ESRRG intron	30157460
C057775	benzylparaben	benzylparaben inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C044887	beta-methylcholine	beta-methylcholine affects the expression of ESRRG mRNA	21179406
C004541	biochanin A	biochanin A promotes the reaction [ESRRG protein binds to PNRC1 protein]	14638870
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone inhibits the reaction [bisphenol A binds to ESRRG protein]	31195007
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of ESRRG mRNA	25111128
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of ESRRG mRNA	30196065; 30951980;
C006780	bisphenol A	1,1-bis(4-hydroxyphenyl)cyclohexane inhibits the reaction [bisphenol A binds to ESRRG protein]	31195007
C006780	bisphenol A	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [bisphenol A results in increased expression of ESRRG mRNA]	27038254
C006780	bisphenol A	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [bisphenol A results in increased expression of ESRRG protein]	26363202; 27038254;
C006780	bisphenol A	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [bisphenol A results in increased expression of ESRRG mRNA]	27038254
C006780	bisphenol A	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [bisphenol A results in increased expression of ESRRG protein]	27038254
C006780	bisphenol A	bis(4-hydroxyphenyl)sulfone inhibits the reaction [bisphenol A binds to ESRRG protein]	31195007
C006780	bisphenol A	bisphenol A analog binds to ESRRG protein	18197296; 22935422;
C006780	bisphenol A	bisphenol A binds to and results in increased activity of ESRRG protein	20427257; 31127318;
C006780	bisphenol A	bisphenol A binds to ESRRG protein	17761695; 17964775; 18005256; 18197296; 18582436; 19304792; 20542892; 22298789; 22935422; 24978476; 31195007;
C006780	bisphenol A	bisphenol A inhibits the reaction [afimoxifene binds to and results in decreased activity of ESRRG protein]	18197296
C006780	bisphenol A	bisphenol A inhibits the reaction [afimoxifene binds to ESRRG protein]	17964775
C006780	bisphenol A	bisphenol A inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C006780	bisphenol A	bisphenol A inhibits the reaction [ binds to and results in decreased activity of ESRRG protein]	31127318
C006780	bisphenol A	bisphenol A inhibits the reaction [ results in decreased activity of ESRRG protein]	30951782
C006780	bisphenol A	bisphenol A inhibits the reaction [Tamoxifen results in decreased expression of ESRRG mRNA]	30467747
C006780	bisphenol A	bisphenol A results in increased expression of and affects the localization of ESRRG protein	26363202
C006780	bisphenol A	bisphenol A results in increased expression of ESRRG mRNA	22121209; 25878060; 26363202; 27038254; 30022450;
C006780	bisphenol A	bisphenol A results in increased expression of ESRRG protein	27038254
C006780	bisphenol A	bisphenol F inhibits the reaction [bisphenol A binds to ESRRG protein]	31195007
C006780	bisphenol A	ESRRG protein affects the reaction [bisphenol A results in increased expression of MMP2 mRNA]	27038254
C006780	bisphenol A	ESRRG protein affects the reaction [bisphenol A results in increased expression of MMP2 protein]	27038254
C006780	bisphenol A	ESRRG protein affects the reaction [bisphenol A results in increased expression of MMP9 mRNA]	27038254
C006780	bisphenol A	ESRRG protein affects the reaction [bisphenol A results in increased expression of MMP9 protein]	27038254
C006780	bisphenol A	bisphenol A affects the expression of ESRRG mRNA	23716699
C006780	bisphenol A	bisphenol A affects the methylation of ESRRG promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of ESRRG mRNA	21123812; 22707478; 25111128; 30149043; 30196065;
C006780	bisphenol A	afimoxifene inhibits the reaction [bisphenol A binds to and results in increased activity of ESRRG protein]	23645310
C006780	bisphenol A	bisphenol A binds to and results in increased activity of ESRRG protein	23645310
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of ESRRG mRNA	26496021
C006780	bisphenol A	bisphenol A inhibits the reaction [Dietary Fats results in increased expression of ESRRG mRNA]	30580332
C006780	bisphenol A	bisphenol A results in decreased expression of ESRRG mRNA	24105817
C006780	bisphenol A	bisphenol A results in decreased expression of ESRRG protein	24105817
C006780	bisphenol A	bisphenol A results in increased expression of ESRRG mRNA	25181051; 30580332;
C006780	bisphenol A	bisphenol A results in increased methylation of ESRRG gene	28505145
C006780	bisphenol A	ESRRG protein results in increased susceptibility to bisphenol A	22281313
C006780	bisphenol A	bisphenol A affects the activity of ESRRG protein	29959737
C492482	bisphenol B	bisphenol B binds to and results in increased activity of ESRRG protein	31127318
C000611646	bisphenol F	bisphenol F inhibits the reaction [bisphenol A binds to ESRRG protein]	31195007
C000611646	bisphenol F	bisphenol F results in increased activity of ESRRG protein	31127318
C000611646	bisphenol F	bisphenol F results in increased expression of ESRRG mRNA	30196065
C038091	butylparaben	butylparaben inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C006862	butylphen	butylphen results in increased activity of ESRRG protein	31127318
D002220	Carbamazepine	Carbamazepine affects the expression of ESRRG mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of ESRRG mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of ESRRG mRNA]	31150632
C006984	chlorocresol	chlorocresol binds to ESRRG protein	17964775
C006984	chlorocresol	chlorocresol inhibits the reaction [afimoxifene binds to ESRRG protein]	17964775
D016572	Cyclosporine	Cyclosporine results in decreased expression of ESRRG mRNA	20106945
C004742	daidzein	daidzein promotes the reaction [ESRRG protein binds to PNRC1 protein]	14638870
D004041	Dietary Fats	CNR1 protein affects the reaction [Dietary Fats results in increased expression of ESRRG mRNA]	30019168
D004041	Dietary Fats	CNR1 protein affects the reaction [Dietary Fats results in increased expression of ESRRG protein]	30019168
D004041	Dietary Fats	Dietary Fats results in increased expression of ESRRG mRNA	18042831; 25016146; 30019168; 30120929;
D004041	Dietary Fats	Dietary Fats results in increased expression of ESRRG protein	30019168
D004041	Dietary Fats	bisphenol A inhibits the reaction [Dietary Fats results in increased expression of ESRRG mRNA]	30580332
D004041	Dietary Fats	Dietary Fats results in increased expression of ESRRG mRNA	30580332
D004054	Diethylstilbestrol	Diethylstilbestrol binds to and affects the activity of ESRRG protein	16889744
D004054	Diethylstilbestrol	Diethylstilbestrol binds to and results in decreased activity of ESRRG protein	11559547; 14751226;
D004054	Diethylstilbestrol	Diethylstilbestrol binds to and results in increased activity of ESRRG protein	12579585
D004054	Diethylstilbestrol	Diethylstilbestrol binds to ESRRG protein	11447273; 17049190;
D004054	Diethylstilbestrol	Diethylstilbestrol inhibits the reaction [ESRRG protein results in increased expression of TFF1 mRNA]	11559547
D004054	Diethylstilbestrol	Diethylstilbestrol binds to and results in decreased activity of ESRRG protein	15161930
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of ESRRG mRNA	22710028
D004054	Diethylstilbestrol	Diethylstilbestrol binds to and results in decreased activity of ESRRG protein	16515477
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 increased expression of ESRRG mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRRG mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRRG mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of ESRRG mRNA	29803840
D013759	Dronabinol	Dronabinol results in increased expression of ESRRG mRNA	31054322
D013759	Dronabinol	tauroursodeoxycholic acid inhibits the reaction [Dronabinol results in increased expression of ESRRG mRNA]	31054322
D013759	Dronabinol	Dronabinol affects the methylation of ESRRG gene	26044905
D004726	Endosulfan	Endosulfan affects the expression of ESRRG mRNA	29391264
D004958	Estradiol	Estradiol binds to ESRRG protein	22935422
D004958	Estradiol	Estradiol results in increased expression of ESRRG mRNA	25878060
D004958	Estradiol	Estradiol results in increased expression of ESRRG mRNA	30196065
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of ESRRG mRNA	26496021
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of ESRRG mRNA	23129252
C012313	ethyl-p-hydroxybenzoate	ethyl-p-hydroxybenzoate inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C041835	ethyl salicylate	ethyl salicylate inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
D017313	Fenretinide	Fenretinide results in increased expression of ESRRG mRNA	28973697
D005284	Fenthion	Fenthion results in increased activity of ESRRG protein	20143881
C039281	furan	furan results in increased methylation of ESRRG gene	22079235
D019833	Genistein	Genistein promotes the reaction [ESRRG protein binds to PNRC1 protein]	14638870
C010974	glyphosate	glyphosate results in increased methylation of ESRRG gene	31011160
C514793	gp120 protein, Human immunodeficiency virus 1	[gp120 protein, Human immunodeficiency virus 1 co-treated with Zalcitabine] results in decreased expression of ESRRG mRNA	18606552
C545235	GSK 4716	GSK 4716 results in increased activity of ESRRG protein	31127318
C545235	GSK 4716	GSK 4716 binds to ESRRG protein	21958216
D018021	Lithium Chloride	Lithium Chloride results in increased expression of ESRRG mRNA	23527032
D008694	Methamphetamine	Methamphetamine results in increased expression of ESRRG mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in decreased methylation of ESRRG intron	30157460
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of ESRRG mRNA	28001369
C015358	methylparaben	methylparaben inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C033069	methyl salicylate	methyl salicylate inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
C501618	N'-((1E)-(4-(diethylamino)phenyl)methylene)-4-hydroxybenzohydrazide	N'-((1E)-(4-(diethylamino)phenyl)methylene)-4-hydroxybenzohydrazide inhibits the reaction [ results in decreased activity of ESRRG protein]	31127318
C501618	N'-((1E)-(4-(diethylamino)phenyl)methylene)-4-hydroxybenzohydrazide	N'-((1E)-(4-(diethylamino)phenyl)methylene)-4-hydroxybenzohydrazide results in increased activity of ESRRG protein	31127318
C501618	N'-((1E)-(4-(diethylamino)phenyl)methylene)-4-hydroxybenzohydrazide	N'-((1E)-(4-(diethylamino)phenyl)methylene)-4-hydroxybenzohydrazide binds to and results in increased activity of ESRRG protein	15713377
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of ESRRG mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of ESRRG mRNA	25554681; 25620056;
D009532	Nickel	Nickel results in decreased expression of ESRRG mRNA	24768652; 25583101;
C025589	ochratoxin A	ochratoxin A results in increased expression of ESRRG mRNA	30559759
D010047	Ovalbumin	Ovalbumin results in decreased expression of ESRRG mRNA	29737898
D000073878	Palm Oil	Palm Oil results in increased expression of ESRRG mRNA	18042831
D010578	Petroleum	Petroleum results in increased expression of ESRRG mRNA	25208076
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 increased expression of ESRRG mRNA	27188386
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ESRRG mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of ESRRG mRNA	18301758; 20813756; 23811191;
C006068	propylparaben	propylparaben inhibits the reaction [afimoxifene inhibits the reaction [ESRRG protein binds to NCOA2 protein]]	23583298
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of ESRRG mRNA	25572481
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of ESRRG mRNA]	31150632
C017947	sodium arsenite	sodium arsenite affects the methylation of ESRRG gene	28589171
D013629	Tamoxifen	bisphenol A inhibits the reaction [Tamoxifen results in decreased expression of ESRRG mRNA]	30467747
D013629	Tamoxifen	Tamoxifen binds to and affects the activity of ESRRG protein	16889744
D013629	Tamoxifen	Tamoxifen binds to ESRRG protein	11447273
D013629	Tamoxifen	Tamoxifen inhibits the reaction [PPARGC1A protein binds to ESRRG protein]	16889744
D013629	Tamoxifen	Tamoxifen results in decreased expression of ESRRG mRNA	30467747
C031655	tauroursodeoxycholic acid	tauroursodeoxycholic acid inhibits the reaction [Dronabinol results in increased expression of ESRRG mRNA]	31054322
C004648	testosterone enanthate	testosterone enanthate affects the expression of ESRRG mRNA	17440010
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of ESRRG mRNA	30496566
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ESRRG mRNA	26377647; 28922406;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of ESRRG mRNA	16214954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to ESRRG promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ESRRG mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ESRRG mRNA	26290441
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ESRRG mRNA	22298810
D019284	Thapsigargin	Thapsigargin results in decreased expression of ESRRG mRNA	22378314
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of ESRRG mRNA	29377183
D014212	Tretinoin	Tretinoin results in increased expression of ESRRG mRNA	23724009
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of ESRRG gene	27618143
C012589	trichostatin A	trichostatin A results in increased activity of ESRRG protein	11705994
C012589	trichostatin A	trichostatin A results in increased expression of ESRRG mRNA	24935251
D014260	Triclosan	Triclosan results in decreased expression of ESRRG mRNA	30510588
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of ESRRG mRNA	19042947
D014415	Tunicamycin	Tunicamycin results in decreased expression of ESRRG mRNA	22378314
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRRG mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of ESRRG mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of ESRRG gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of ESRRG mRNA	23179753; 24383497; 24935251; 26272509; 28001369;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of ESRRG gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of ESRRG mRNA	19015723
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of ESRRG mRNA	26682919
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRRG mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of ESRRG mRNA	26272509
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in increased expression of ESRRG mRNA	25208076
D016047	Zalcitabine	[gp120 protein, Human immunodeficiency virus 1 co-treated with Zalcitabine] results in decreased expression of ESRRG mRNA	18606552
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of ESRRG mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0010	Activator
KW-0025	Alternative splicing
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR035500	NHR-like_dom_sf
IPR000536	Nucl_hrmn_rcpt_lig-bd
IPR001723	Nuclear_hrmn_rcpt
IPR027289	Oest-rel_rcp
IPR024178	Oest_rcpt/oest-rel_rcp
IPR003078	Retinoic_acid_rcpt
IPR001628	Znf_hrmn_rcpt
IPR013088	Znf_NHR/GATA

PROSITE

PROSITE ID	PROSITE Term
PS51843	NR_LBD
PS00031	NUCLEAR_REC_DBD_1
PS51030	NUCLEAR_REC_DBD_2

Pfam

Pfam ID	Pfam Term
PF00104	Hormone_recep
PF00105	zf-C4

Gene: ESRRG

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

Identified variants/mutations related to cleft phenotype

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