CleftGeneDB-Search

Gene: TOX3

Basic information

Tag	Content
Uniprot ID	O15405; B4DRD0; B5MCW4;
Entrez ID	27324
Genbank protein ID	BAG61242.1; AAB91435.1;
Genbank nucleotide ID	NM_001146188.2; NM_001080430.3;
Ensembl protein ID	ENSP00000219746; ENSP00000385705;
Ensembl nucleotide ID	ENSG00000103460
Gene name	TOX high mobility group box family member 3
Gene symbol	TOX3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26868259
Functional description	Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region.
Sequence	MDVRFYPAAA GDPASLDFAQ CLGYYGYSKF GNNNNYMNMA EANNAFFAAS EQTFHTPSLG 60 DEEFEIPPIT PPPESDPALG MPDVLLPFQA LSDPLPSQGS EFTPQFPPQS LDLPSITISR 120 NLVEQDGVLH SSGLHMDQSH TQVSQYRQDP SLIMRSIVHM TDAARSGVMP PAQLTTINQS 180 QLSAQLGLNL GGASMPHTSP SPPASKSATP SPSSSINEED ADEANRAIGE KRAAPDSGKK 240 PKTPKKKKKK DPNEPQKPVS AYALFFRDTQ AAIKGQNPNA TFGEVSKIVA SMWDSLGEEQ 300 KQVYKRKTEA AKKEYLKALA AYRASLVSKA AAESAEAQTI RSVQQTLAST NLTSSLLLNT 360 PLSQHGTVSA SPQTLQQSLP RSIAPKPLTM RLPMNQIVTS VTIAANMPSN IGAPLISSMG 420 TTMVGSAPST QVSPSVQTQQ HQMQLQQQQQ QQQQQMQQMQ QQQLQQHQMH QQIQQQMQQQ 480 HFQHHMQQHL QQQQQHLQQQ INQQQLQQQL QQRLQLQQLQ HMQHQSQPSP RQHSPVASQI 540 TSPIPAIGSP QPASQQHQSQ IQSQTQTQVL SQVSIF 576

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	TOX3	539135	E1BKT2	Bos taurus	Prediction	More>>
1:1 ortholog	TOX3		F1PDR6	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TOX3	102186986	A0A452E0C0	Capra hircus	Prediction	More>>
1:1 ortholog	TOX3	27324	O15405	Homo sapiens	Publication	More>>
1:1 ortholog	Tox3	244579	Q80W03	Mus musculus	Prediction	More>>
1:1 ortholog	TOX3		A0A2I3STP6	Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A4X1U5I2	Sus scrofa	Prediction	More>>
1:1 ortholog	Tox3		F1LNE1	Rattus norvegicus	Prediction	More>>
1:1 ortholog	tox3	555286	E7FAU5	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TOX3	rs1420533	GWAS	26868259

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1413088762	p.Arg4Lys	missense variant	-	NC_000016.10:g.52546713C>T	TOPMed
rs1190470930	p.Arg4Ser	missense variant	-	NC_000016.10:g.52546712C>G	TOPMed,gnomAD
rs1428419441	p.Phe5Leu	missense variant	-	NC_000016.10:g.52546711A>G	gnomAD
rs1433454882	p.Tyr6His	missense variant	-	NC_000016.10:g.52546708A>G	TOPMed
rs1196509466	p.Pro7His	missense variant	-	NC_000016.10:g.52546704G>T	gnomAD
rs773767575	p.Ala8Glu	missense variant	-	NC_000016.10:g.52546701G>T	ExAC,gnomAD
rs761115401	p.Ala8Pro	missense variant	-	NC_000016.10:g.52546702C>G	ExAC,gnomAD
rs761115401	p.Ala8Thr	missense variant	-	NC_000016.10:g.52546702C>T	ExAC,gnomAD
rs1339858979	p.Ala9Val	missense variant	-	NC_000016.10:g.52546698G>A	TOPMed
rs772419698	p.Gly11Trp	missense variant	-	NC_000016.10:g.52546693C>A	ExAC,gnomAD
rs772419698	p.Gly11Arg	missense variant	-	NC_000016.10:g.52546693C>T	ExAC,gnomAD
rs1341241820	p.Pro13His	missense variant	-	NC_000016.10:g.52546686G>T	gnomAD
rs1226831854	p.Pro13Ala	missense variant	-	NC_000016.10:g.52546687G>C	gnomAD
rs1401784536	p.Ala14Val	missense variant	-	NC_000016.10:g.52546683G>A	gnomAD
rs748500023	p.Ala14Ser	missense variant	-	NC_000016.10:g.52546684C>A	ExAC,gnomAD
rs1322731916	p.Ser15Gly	missense variant	-	NC_000016.10:g.52546681T>C	gnomAD
rs980576855	p.Ser15Ile	missense variant	-	NC_000016.10:g.52546680C>A	TOPMed
rs1464614374	p.Ala19Val	missense variant	-	NC_000016.10:g.52546668G>A	gnomAD
rs1022168357	p.Cys21Phe	missense variant	-	NC_000016.10:g.52546662C>A	TOPMed
rs1277600052	p.Gly23Val	missense variant	-	NC_000016.10:g.52546656C>A	TOPMed
rs1477205598	p.Tyr25Cys	missense variant	-	NC_000016.10:g.52546650T>C	TOPMed
rs1260960284	p.Tyr25Asn	missense variant	-	NC_000016.10:g.52546651A>T	TOPMed
rs377611579	p.Gly26Ser	missense variant	-	NC_000016.10:g.52546648C>T	ESP,ExAC,TOPMed,gnomAD
rs377611579	p.Gly26Arg	missense variant	-	NC_000016.10:g.52546648C>G	ESP,ExAC,TOPMed,gnomAD
rs780213350	p.Tyr27Cys	missense variant	-	NC_000016.10:g.52546644T>C	ExAC,gnomAD
rs1453508527	p.Lys29Asn	missense variant	-	NC_000016.10:g.52546637C>A	gnomAD
COSM1293598	p.Asn33Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52468563A>T	NCI-TCGA Cosmic
rs746972464	p.Asn33Ser	missense variant	-	NC_000016.10:g.52468564T>C	ExAC,gnomAD
rs771251976	p.Asn34Asp	missense variant	-	NC_000016.10:g.52468562T>C	ExAC,gnomAD
rs758274251	p.Met37Ile	missense variant	-	NC_000016.10:g.52468551C>T	ExAC,TOPMed,gnomAD
rs1167208032	p.Met39Ile	missense variant	-	NC_000016.10:g.52468545C>T	TOPMed,gnomAD
rs752343447	p.Ala40Pro	missense variant	-	NC_000016.10:g.52468544C>G	ExAC,gnomAD
rs568437917	p.Ala42Glu	missense variant	-	NC_000016.10:g.52468537G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1423024805	p.Ala42Ser	missense variant	-	NC_000016.10:g.52468538C>A	gnomAD
rs568437917	p.Ala42Val	missense variant	-	NC_000016.10:g.52468537G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753295942	p.Asn44Tyr	missense variant	-	NC_000016.10:g.52468532T>A	ExAC,gnomAD
rs369822258	p.Ala45Glu	missense variant	-	NC_000016.10:g.52468528G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala45Ser	missense variant	-	NC_000016.10:g.52468529C>A	NCI-TCGA
rs369822258	p.Ala45Val	missense variant	-	NC_000016.10:g.52468528G>A	ESP,ExAC,TOPMed,gnomAD
rs775836835	p.Ala48Thr	missense variant	-	NC_000016.10:g.52468520C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala48Ser	missense variant	-	NC_000016.10:g.52468520C>A	NCI-TCGA
rs775836835	p.Ala48Pro	missense variant	-	NC_000016.10:g.52468520C>G	ExAC,gnomAD
rs1256877578	p.Ala49Ser	missense variant	-	NC_000016.10:g.52468517C>A	gnomAD
rs1219766630	p.Ser50Gly	missense variant	-	NC_000016.10:g.52468514T>C	gnomAD
rs371907581	p.Thr53Ile	missense variant	-	NC_000016.10:g.52464184G>A	ESP,ExAC,TOPMed,gnomAD
rs1228695826	p.Ser58Arg	missense variant	-	NC_000016.10:g.52464168G>T	TOPMed
rs760851348	p.Asp61Val	missense variant	-	NC_000016.10:g.52464160T>A	ExAC,gnomAD
rs771946027	p.Glu63Lys	missense variant	-	NC_000016.10:g.52464155C>T	ExAC,gnomAD
rs989915228	p.Phe64Leu	missense variant	-	NC_000016.10:g.52464152A>G	TOPMed,gnomAD
COSM1230095	p.Glu65Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464149C>T	NCI-TCGA Cosmic
rs748115079	p.Pro67Ser	missense variant	-	NC_000016.10:g.52464143G>A	ExAC,gnomAD
rs768449574	p.Thr70Met	missense variant	-	NC_000016.10:g.52464133G>A	ExAC,gnomAD
COSM4853597	p.Pro72Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464128G>A	NCI-TCGA Cosmic
rs779821152	p.Pro72Arg	missense variant	-	NC_000016.10:g.52464127G>C	ExAC,gnomAD
rs755560023	p.Asp76Tyr	missense variant	-	NC_000016.10:g.52464116C>A	ExAC,gnomAD
rs1274810425	p.Pro77Ser	missense variant	-	NC_000016.10:g.52464113G>A	TOPMed
rs1258115667	p.Met81Val	missense variant	-	NC_000016.10:g.52464101T>C	gnomAD
rs753269920	p.Pro82Thr	missense variant	-	NC_000016.10:g.52464098G>T	ExAC,gnomAD
rs986221697	p.Pro82Leu	missense variant	-	NC_000016.10:g.52464097G>A	TOPMed,gnomAD
rs765684548	p.Asp83Glu	missense variant	-	NC_000016.10:g.52464093A>T	ExAC,TOPMed,gnomAD
rs755462093	p.Val84Ile	missense variant	-	NC_000016.10:g.52464092C>T	ExAC,gnomAD
rs1338711909	p.Leu85Pro	missense variant	-	NC_000016.10:g.52464088A>G	gnomAD
rs375653576	p.Pro87Ala	missense variant	-	NC_000016.10:g.52464083G>C	ESP,ExAC,TOPMed,gnomAD
rs773301649	p.Phe88Leu	missense variant	-	NC_000016.10:g.52464080A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu91Arg	missense variant	-	NC_000016.10:g.52464070A>C	NCI-TCGA
rs761677560	p.Ser92Arg	missense variant	-	NC_000016.10:g.52464066G>T	ExAC,gnomAD
COSM3510220	p.Pro94Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464061G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro94Ala	missense variant	-	NC_000016.10:g.52464062G>C	NCI-TCGA
NCI-TCGA novel	p.Pro94Ser	missense variant	-	NC_000016.10:g.52464062G>A	NCI-TCGA
rs1421210462	p.Pro94Gln	missense variant	-	NC_000016.10:g.52464061G>T	gnomAD
rs768433075	p.Gln98Arg	missense variant	-	NC_000016.10:g.52464049T>C	ExAC,TOPMed,gnomAD
COSM1519439	p.Gly99Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464047C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser100Gly	missense variant	-	NC_000016.10:g.52464044T>C	NCI-TCGA
rs775173684	p.Glu101Gly	missense variant	-	NC_000016.10:g.52464040T>C	ExAC,gnomAD
rs1192155497	p.Thr103Ala	missense variant	-	NC_000016.10:g.52464035T>C	TOPMed,gnomAD
rs371588576	p.Thr103Ile	missense variant	-	NC_000016.10:g.52464034G>A	ESP,TOPMed,gnomAD
rs1219070355	p.Pro104Ala	missense variant	-	NC_000016.10:g.52464032G>C	gnomAD
COSM4914314	p.Phe106Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464025A>G	NCI-TCGA Cosmic
rs1354589421	p.Pro107Ser	missense variant	-	NC_000016.10:g.52464023G>A	gnomAD
NCI-TCGA novel	p.Pro108LeuPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52464019G>-	NCI-TCGA
rs780796132	p.Ser110Arg	missense variant	-	NC_000016.10:g.52464012G>C	ExAC,gnomAD
rs745514528	p.Ser110Gly	missense variant	-	NC_000016.10:g.52464014T>C	ExAC,TOPMed,gnomAD
rs970877175	p.Asp112Gly	missense variant	-	NC_000016.10:g.52464007T>C	gnomAD
rs756886057	p.Thr117Ile	missense variant	-	NC_000016.10:g.52463992G>A	ExAC,gnomAD
rs1298640639	p.Ser119Ala	missense variant	-	NC_000016.10:g.52463987A>C	gnomAD
rs1383535236	p.Ser119Leu	missense variant	-	NC_000016.10:g.52463986G>A	gnomAD
rs1388185865	p.Leu122Pro	missense variant	-	NC_000016.10:g.52463977A>G	gnomAD
COSM971399	p.Leu122Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52463978G>T	NCI-TCGA Cosmic
rs1380292847	p.Leu122Val	missense variant	-	NC_000016.10:g.52463978G>C	TOPMed
rs578190059	p.Val123Met	missense variant	-	NC_000016.10:g.52463975C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val123TrpPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52463976G>-	NCI-TCGA
rs1419407796	p.Gly127Ala	missense variant	-	NC_000016.10:g.52463962C>G	gnomAD
rs16951186	p.Val128Met	missense variant	-	NC_000016.10:g.52463960C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs16951186	p.Val128Met	missense variant	-	NC_000016.10:g.52463960C>T	UniProt,dbSNP
VAR_055952	p.Val128Met	missense variant	-	NC_000016.10:g.52463960C>T	UniProt
rs201752610	p.Leu129Phe	missense variant	-	NC_000016.10:g.52463957G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His130Pro	missense variant	-	NC_000016.10:g.52463953T>G	NCI-TCGA
rs538021558	p.His130Gln	missense variant	-	NC_000016.10:g.52463952A>C	gnomAD
rs761945302	p.Ser131Asn	missense variant	-	NC_000016.10:g.52463950C>T	ExAC,gnomAD
rs1232109311	p.Leu134Met	missense variant	-	NC_000016.10:g.52463942A>T	gnomAD
rs370436866	p.His135Arg	missense variant	-	NC_000016.10:g.52463938T>C	1000Genomes,ESP,ExAC,gnomAD
rs370436866	p.His135Leu	missense variant	-	NC_000016.10:g.52463938T>A	1000Genomes,ESP,ExAC,gnomAD
rs1271638069	p.Met136Thr	missense variant	-	NC_000016.10:g.52463935A>G	TOPMed
rs1304432978	p.Met136Ile	missense variant	-	NC_000016.10:g.52463934C>A	gnomAD
rs552684062	p.Met136Val	missense variant	-	NC_000016.10:g.52463936T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln138Ter	stop gained	-	NC_000016.10:g.52450543G>A	NCI-TCGA
rs1004983981	p.Ser139Asn	missense variant	-	NC_000016.10:g.52450539C>T	TOPMed
rs1258579042	p.Ser139Arg	missense variant	-	NC_000016.10:g.52450538G>T	gnomAD
rs564895278	p.Val143Ala	missense variant	-	NC_000016.10:g.52450527A>G	1000Genomes,ExAC,gnomAD
rs751601017	p.Ser144Phe	missense variant	-	NC_000016.10:g.52450524G>A	ExAC,TOPMed,gnomAD
COSM971395	p.Tyr146His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52450519A>G	NCI-TCGA Cosmic
rs201164572	p.Arg147Gln	missense variant	-	NC_000016.10:g.52450515C>T	ExAC,TOPMed,gnomAD
rs573103587	p.Arg147Trp	missense variant	-	NC_000016.10:g.52450516G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1043079985	p.Gln148Pro	missense variant	-	NC_000016.10:g.52450512T>G	TOPMed,gnomAD
rs1043079985	p.Gln148Arg	missense variant	-	NC_000016.10:g.52450512T>C	TOPMed,gnomAD
rs765077291	p.Asp149Val	missense variant	-	NC_000016.10:g.52450509T>A	ExAC
rs1445335204	p.Asp149Asn	missense variant	-	NC_000016.10:g.52450510C>T	gnomAD
rs1445335204	p.Asp149Tyr	missense variant	-	NC_000016.10:g.52450510C>A	gnomAD
rs759291632	p.Pro150Ala	missense variant	-	NC_000016.10:g.52450507G>C	ExAC,gnomAD
rs375929325	p.Ser151Phe	missense variant	-	NC_000016.10:g.52450503G>A	ESP,ExAC,TOPMed,gnomAD
rs770661385	p.Leu152Val	missense variant	-	NC_000016.10:g.52450501G>C	ExAC,gnomAD
rs945726657	p.Ile153Thr	missense variant	-	NC_000016.10:g.52450497A>G	TOPMed,gnomAD
rs1336358754	p.Met154Thr	missense variant	-	NC_000016.10:g.52450494A>G	TOPMed
rs200208189	p.Arg155Gln	missense variant	-	NC_000016.10:g.52450491C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1173578011	p.Arg155Trp	missense variant	-	NC_000016.10:g.52450492G>A	TOPMed,gnomAD
COSM3510212	p.Ser156Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52450488G>A	NCI-TCGA Cosmic
rs772779923	p.Ser156Pro	missense variant	-	NC_000016.10:g.52450489A>G	ExAC,TOPMed,gnomAD
rs369028802	p.Val158Ile	missense variant	-	NC_000016.10:g.52450483C>T	ESP,ExAC,TOPMed,gnomAD
rs770162573	p.Met160Leu	missense variant	-	NC_000016.10:g.52450477T>G	ExAC,gnomAD
rs367924123	p.Met160Thr	missense variant	-	NC_000016.10:g.52450476A>G	ESP,ExAC,gnomAD
rs770162573	p.Met160Val	missense variant	-	NC_000016.10:g.52450477T>C	ExAC,gnomAD
rs781570038	p.Thr161Ile	missense variant	-	NC_000016.10:g.52450473G>A	ExAC,gnomAD
rs202068223	p.Asp162Asn	missense variant	-	NC_000016.10:g.52450471C>T	ESP,ExAC,TOPMed,gnomAD
rs1349809510	p.Ala163Val	missense variant	-	NC_000016.10:g.52450467G>A	gnomAD
rs368183535	p.Ala164Val	missense variant	-	NC_000016.10:g.52450464G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752653368	p.Arg165Cys	missense variant	-	NC_000016.10:g.52450462G>A	ExAC,TOPMed,gnomAD
rs765140161	p.Arg165Leu	missense variant	-	NC_000016.10:g.52450461C>A	ExAC,TOPMed,gnomAD
rs765140161	p.Arg165Pro	missense variant	-	NC_000016.10:g.52450461C>G	ExAC,TOPMed,gnomAD
rs765140161	p.Arg165His	missense variant	-	NC_000016.10:g.52450461C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser166Phe	missense variant	-	NC_000016.10:g.52450458G>A	NCI-TCGA
COSM1378299	p.Gln173Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52450438G>T	NCI-TCGA Cosmic
rs374622397	p.Leu174Ile	missense variant	-	NC_000016.10:g.52450435G>T	ESP,ExAC,TOPMed,gnomAD
rs371471795	p.Thr175Pro	missense variant	-	NC_000016.10:g.52450432T>G	ESP,ExAC,gnomAD
rs1420615602	p.Ile177Val	missense variant	-	NC_000016.10:g.52450426T>C	gnomAD
NCI-TCGA novel	p.Ser180Pro	missense variant	-	NC_000016.10:g.52450417A>G	NCI-TCGA
rs766278719	p.Ser180Tyr	missense variant	-	NC_000016.10:g.52450416G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln181Ter	stop gained	-	NC_000016.10:g.52450414G>A	NCI-TCGA
rs760342139	p.Leu182Phe	missense variant	-	NC_000016.10:g.52450411G>A	ExAC,gnomAD
rs969462101	p.Ser183Cys	missense variant	-	NC_000016.10:g.52450408T>A	gnomAD
rs1188581671	p.Ser183Asn	missense variant	-	NC_000016.10:g.52450407C>T	gnomAD
rs114182621	p.Ala184Thr	missense variant	-	NC_000016.10:g.52450405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs558141024	p.Ala184Asp	missense variant	-	NC_000016.10:g.52450404G>T	1000Genomes,ExAC
COSM703473	p.Gln185His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52450400C>A	NCI-TCGA Cosmic
rs770149446	p.Gln185His	missense variant	-	NC_000016.10:g.52450400C>G	ExAC,TOPMed,gnomAD
rs1317193807	p.Gly187Trp	missense variant	-	NC_000016.10:g.52450396C>A	TOPMed,gnomAD
rs370542526	p.Gly187Glu	missense variant	-	NC_000016.10:g.52450395C>T	ESP,ExAC,TOPMed,gnomAD
rs1317193807	p.Gly187Arg	missense variant	-	NC_000016.10:g.52450396C>T	TOPMed,gnomAD
rs370542526	p.Gly187Val	missense variant	-	NC_000016.10:g.52450395C>A	ESP,ExAC,TOPMed,gnomAD
rs1315309030	p.Gly191Val	missense variant	-	NC_000016.10:g.52450383C>A	TOPMed,gnomAD
rs1341951326	p.Gly192Asp	missense variant	-	NC_000016.10:g.52450380C>T	TOPMed
rs776924792	p.Ala193Ser	missense variant	-	NC_000016.10:g.52450378C>A	ExAC,TOPMed,gnomAD
rs776924792	p.Ala193Thr	missense variant	-	NC_000016.10:g.52450378C>T	ExAC,TOPMed,gnomAD
rs534673058	p.Ser194Asn	missense variant	-	NC_000016.10:g.52450374C>T	1000Genomes,ExAC,gnomAD
rs376003882	p.Met195Ile	missense variant	-	NC_000016.10:g.52450370C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747227764	p.Met195Thr	missense variant	-	NC_000016.10:g.52450371A>G	ExAC,TOPMed,gnomAD
rs1429037117	p.Thr198Ala	missense variant	-	NC_000016.10:g.52450363T>C	TOPMed
NCI-TCGA novel	p.Ser201Leu	missense variant	-	NC_000016.10:g.52450353G>A	NCI-TCGA
rs373268092	p.Pro202Ser	missense variant	-	NC_000016.10:g.52450351G>A	ESP,ExAC,TOPMed,gnomAD
rs753836987	p.Ser205Thr	missense variant	-	NC_000016.10:g.52450341C>G	ExAC,gnomAD
rs1404777742	p.Lys206Asn	missense variant	-	NC_000016.10:g.52450337T>G	gnomAD
rs766260286	p.Ser207Pro	missense variant	-	NC_000016.10:g.52450336A>G	ExAC,gnomAD
rs1301733747	p.Ile216Val	missense variant	-	NC_000016.10:g.52450309T>C	TOPMed
rs767123926	p.Asn217Ser	missense variant	-	NC_000016.10:g.52450305T>C	ExAC
rs761547535	p.Glu219Asp	missense variant	-	NC_000016.10:g.52450298C>G	ExAC,TOPMed,gnomAD
rs773670387	p.Ala221Gly	missense variant	-	NC_000016.10:g.52450293G>C	ExAC,gnomAD
rs1384392045	p.Ala224Thr	missense variant	-	NC_000016.10:g.52450285C>T	TOPMed
rs73583125	p.Ala224Gly	missense variant	-	NC_000016.10:g.52450284G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1218947197	p.Arg226Lys	missense variant	-	NC_000016.10:g.52450278C>T	gnomAD
rs762489929	p.Ile228Val	missense variant	-	NC_000016.10:g.52446218T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu230Asp	missense variant	-	NC_000016.10:g.52446210C>A	NCI-TCGA
COSM971389	p.Arg232Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52446206T>C	NCI-TCGA Cosmic
rs1401070456	p.Ala233Pro	missense variant	-	NC_000016.10:g.52446203C>G	TOPMed,gnomAD
rs1205835548	p.Ala233Gly	missense variant	-	NC_000016.10:g.52446202G>C	gnomAD
NCI-TCGA novel	p.Ser237TrpPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52446189_52446190AG>-	NCI-TCGA
COSM1324410	p.Lys239Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52446184T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys239Asn	missense variant	-	NC_000016.10:g.52446183C>A	NCI-TCGA
rs761279511	p.Lys240Asn	missense variant	-	NC_000016.10:g.52446180C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro241His	missense variant	-	NC_000016.10:g.52446178G>T	NCI-TCGA
rs773384434	p.Thr243Ile	missense variant	-	NC_000016.10:g.52446172G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro244Ser	missense variant	-	NC_000016.10:g.52446170G>A	NCI-TCGA
NCI-TCGA novel	p.Lys247Asn	missense variant	-	NC_000016.10:g.52446159C>G	NCI-TCGA
rs772496329	p.Lys248Thr	missense variant	-	NC_000016.10:g.52446157T>G	ExAC,gnomAD
rs569021689	p.Lys250Gln	missense variant	-	NC_000016.10:g.52446152T>G	1000Genomes,ExAC,gnomAD
rs376656487	p.Pro252Leu	missense variant	-	NC_000016.10:g.52446145G>A	ESP
rs1390608064	p.Asn253Ser	missense variant	-	NC_000016.10:g.52446142T>C	TOPMed
rs373175918	p.Glu254Gln	missense variant	-	NC_000016.10:g.52446140C>G	ESP,ExAC,gnomAD
rs749427716	p.Pro255Ala	missense variant	-	NC_000016.10:g.52446137G>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr262Cys	missense variant	-	NC_000016.10:g.52446115T>C	NCI-TCGA
NCI-TCGA novel	p.Ala263Val	missense variant	-	NC_000016.10:g.52446112G>A	NCI-TCGA
NCI-TCGA novel	p.Phe265Tyr	missense variant	-	NC_000016.10:g.52446106A>T	NCI-TCGA
rs368713418	p.Ala271Val	missense variant	-	NC_000016.10:g.52446088G>A	ESP,ExAC,TOPMed,gnomAD
rs368713418	p.Ala271Asp	missense variant	-	NC_000016.10:g.52446088G>T	ESP,ExAC,TOPMed,gnomAD
rs745821258	p.Ile273Val	missense variant	-	NC_000016.10:g.52446083T>C	ExAC,gnomAD
rs376846754	p.Gly275Ser	missense variant	-	NC_000016.10:g.52446077C>T	ESP,ExAC,gnomAD
COSM971387	p.Gln276Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.52446074G>A	NCI-TCGA Cosmic
rs757143628	p.Asn277Ser	missense variant	-	NC_000016.10:g.52446070T>C	ExAC
rs751141352	p.Pro278Ser	missense variant	-	NC_000016.10:g.52446068G>A	ExAC,gnomAD
rs751141352	p.Pro278Thr	missense variant	-	NC_000016.10:g.52446068G>T	ExAC,gnomAD
rs184096376	p.Asn279Ser	missense variant	-	NC_000016.10:g.52446064T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184096376	p.Asn279Ile	missense variant	-	NC_000016.10:g.52446064T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184096376	p.Asn279Thr	missense variant	-	NC_000016.10:g.52446064T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200878352	p.Ala280Thr	missense variant	-	NC_000016.10:g.52446062C>T	ExAC,TOPMed,gnomAD
rs1349072901	p.Thr281Ala	missense variant	-	NC_000016.10:g.52446059T>C	gnomAD
rs761026810	p.Thr281Ile	missense variant	-	NC_000016.10:g.52446058G>A	ExAC,gnomAD
rs750994556	p.Met292Val	missense variant	-	NC_000016.10:g.52446026T>C	ExAC,gnomAD
rs762274462	p.Ser295Arg	missense variant	-	NC_000016.10:g.52446015G>C	ExAC,TOPMed
rs767765663	p.Ser295Gly	missense variant	-	NC_000016.10:g.52446017T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu296ThrPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52446014_52446015insTGCATGT	NCI-TCGA
NCI-TCGA novel	p.Lys301Asn	missense variant	-	NC_000016.10:g.52445997C>A	NCI-TCGA
NCI-TCGA novel	p.Gln302Ter	stop gained	-	NC_000016.10:g.52445996G>A	NCI-TCGA
COSM971385	p.Lys305Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52444349T>G	NCI-TCGA Cosmic
rs1241226291	p.Lys307Glu	missense variant	-	NC_000016.10:g.52444344T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu314AsnPheSerTerUnk	frameshift	-	NC_000016.10:g.52444324T>-	NCI-TCGA
NCI-TCGA novel	p.Glu314ArgPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52444323_52444324insT	NCI-TCGA
rs1310423573	p.Tyr315Asn	missense variant	-	NC_000016.10:g.52444320A>T	gnomAD
COSM971383	p.Leu319Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52444308G>T	NCI-TCGA Cosmic
rs371378216	p.Ala320Val	missense variant	-	NC_000016.10:g.52444304G>A	ESP,ExAC,TOPMed,gnomAD
rs1397711483	p.Tyr322Asn	missense variant	-	NC_000016.10:g.52444299A>T	gnomAD
COSM1378295	p.Arg323Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52444295C>T	NCI-TCGA Cosmic
rs763207906	p.Ser325Ile	missense variant	-	NC_000016.10:g.52444289C>A	ExAC
rs764556506	p.Ser325Gly	missense variant	-	NC_000016.10:g.52444290T>C	ExAC
rs1454839681	p.Ser325Arg	missense variant	-	NC_000016.10:g.52444288G>T	gnomAD
rs775922823	p.Leu326Ile	missense variant	-	NC_000016.10:g.52444287G>T	ExAC
rs765201436	p.Leu326Arg	missense variant	-	NC_000016.10:g.52444286A>C	ExAC
rs370721262	p.Val327Ile	missense variant	-	NC_000016.10:g.52444284C>T	ESP,ExAC,TOPMed,gnomAD
rs748896812	p.Ala332Val	missense variant	-	NC_000016.10:g.52439961G>A	ExAC,gnomAD
rs1409969275	p.Ala332Thr	missense variant	-	NC_000016.10:g.52439962C>T	gnomAD
rs779557110	p.Ala337Thr	missense variant	-	NC_000016.10:g.52439947C>T	ExAC,gnomAD
rs1464882312	p.Gln338Lys	missense variant	-	NC_000016.10:g.52439944G>T	gnomAD
NCI-TCGA novel	p.Gln338Glu	missense variant	-	NC_000016.10:g.52439944G>C	NCI-TCGA
rs1033955763	p.Arg341His	missense variant	-	NC_000016.10:g.52439934C>T	TOPMed,gnomAD
COSM703479	p.Arg341Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52439934C>A	NCI-TCGA Cosmic
rs948733706	p.Arg341Cys	missense variant	-	NC_000016.10:g.52439935G>A	gnomAD
rs755741996	p.Val343Ile	missense variant	-	NC_000016.10:g.52439929C>T	ExAC,gnomAD
rs1000682430	p.Thr346Asn	missense variant	-	NC_000016.10:g.52439919G>T	TOPMed
rs747488842	p.Thr346Ala	missense variant	-	NC_000016.10:g.52439920T>C	ExAC,gnomAD
rs1042123962	p.Ala348Thr	missense variant	-	NC_000016.10:g.52439914C>T	TOPMed,gnomAD
rs758997487	p.Ala348Val	missense variant	-	NC_000016.10:g.52439913G>A	ExAC,TOPMed,gnomAD
rs1342642228	p.Ser349Pro	missense variant	-	NC_000016.10:g.52439911A>G	gnomAD
rs779154429	p.Ser349Leu	missense variant	-	NC_000016.10:g.52439910G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr350GlnLeuHisCys	insertion	-	NC_000016.10:g.52439906_52439907insCAGTGTAGCTGA	NCI-TCGA
NCI-TCGA novel	p.Asn351SerPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52439904_52439905insAGGCAATAAGAAC	NCI-TCGA
rs754068580	p.Asn351Lys	missense variant	-	NC_000016.10:g.52439903A>T	ExAC,TOPMed,gnomAD
rs961756492	p.Asn351Ser	missense variant	-	NC_000016.10:g.52439904T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr353Ser	missense variant	-	NC_000016.10:g.52439899T>A	NCI-TCGA
rs374364445	p.Thr353Ile	missense variant	-	NC_000016.10:g.52439898G>A	ESP,ExAC,TOPMed,gnomAD
rs1394590249	p.Ser354Thr	missense variant	-	NC_000016.10:g.52439896A>T	gnomAD
rs1038960680	p.Leu356Val	missense variant	-	NC_000016.10:g.52439890G>C	TOPMed,gnomAD
rs984683447	p.Leu357Phe	missense variant	-	NC_000016.10:g.52439887G>A	gnomAD
rs767390141	p.Leu358Phe	missense variant	-	NC_000016.10:g.52439884G>A	ExAC,gnomAD
rs1158110121	p.Asn359Ile	missense variant	-	NC_000016.10:g.52439880T>A	gnomAD
rs774127935	p.Thr360Ser	missense variant	-	NC_000016.10:g.52439878T>A	ExAC,gnomAD
rs1382718921	p.Ser363Cys	missense variant	-	NC_000016.10:g.52439868G>C	TOPMed
COSM5643711	p.Gln364Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.52439866G>A	NCI-TCGA Cosmic
rs1484530771	p.Gln364Arg	missense variant	-	NC_000016.10:g.52439865T>C	gnomAD
rs762652597	p.His365Arg	missense variant	-	NC_000016.10:g.52439862T>C	ExAC,gnomAD
rs561674364	p.Gly366Ala	missense variant	-	NC_000016.10:g.52439859C>G	1000Genomes
NCI-TCGA novel	p.Gly366Arg	missense variant	-	NC_000016.10:g.52439860C>T	NCI-TCGA
NCI-TCGA novel	p.Val368GlyPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52439853_52439854insC	NCI-TCGA
rs1283474466	p.Ser369Thr	missense variant	-	NC_000016.10:g.52439851A>T	gnomAD
rs1350778382	p.Ala370Val	missense variant	-	NC_000016.10:g.52439847G>A	gnomAD
rs769408166	p.Ser371Leu	missense variant	-	NC_000016.10:g.52439844G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser371CysPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52439844_52439845insCAAACCCAGC	NCI-TCGA
rs941506171	p.Pro372Leu	missense variant	-	NC_000016.10:g.52439841G>A	TOPMed
rs745322355	p.Gln373Glu	missense variant	-	NC_000016.10:g.52439839G>C	ExAC,gnomAD
rs780882008	p.Gln373Arg	missense variant	-	NC_000016.10:g.52439838T>C	ExAC,gnomAD
rs1313922897	p.Gln377Pro	missense variant	-	NC_000016.10:g.52439826T>G	gnomAD
rs748620718	p.Arg381Lys	missense variant	-	NC_000016.10:g.52439814C>T	ExAC,gnomAD
rs1317942555	p.Ser382Leu	missense variant	-	NC_000016.10:g.52439811G>A	TOPMed,gnomAD
rs541908617	p.Ile383Val	missense variant	-	NC_000016.10:g.52439809T>C	1000Genomes,ExAC,gnomAD
rs754057654	p.Ala384Thr	missense variant	-	NC_000016.10:g.52439806C>T	ExAC,gnomAD
rs780301181	p.Pro385Arg	missense variant	-	NC_000016.10:g.52439802G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro385Ser	missense variant	-	NC_000016.10:g.52439803G>A	NCI-TCGA
rs1416852026	p.Pro387Thr	missense variant	-	NC_000016.10:g.52439797G>T	gnomAD
NCI-TCGA novel	p.Leu388Ter	stop gained	-	NC_000016.10:g.52439793A>T	NCI-TCGA
rs1486549876	p.Met390Leu	missense variant	-	NC_000016.10:g.52439788T>G	gnomAD
rs1239940521	p.Arg391Lys	missense variant	-	NC_000016.10:g.52439784C>T	gnomAD
rs1188911955	p.Leu392Pro	missense variant	-	NC_000016.10:g.52439781A>G	TOPMed
rs756347818	p.Leu392Ile	missense variant	-	NC_000016.10:g.52439782G>T	ExAC,TOPMed,gnomAD
rs556136578	p.Met394Arg	missense variant	-	NC_000016.10:g.52439775A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs971447282	p.Met394Leu	missense variant	-	NC_000016.10:g.52439776T>A	TOPMed,gnomAD
rs1166963215	p.Asn395Asp	missense variant	-	NC_000016.10:g.52439773T>C	TOPMed
rs767588384	p.Asn395Lys	missense variant	-	NC_000016.10:g.52439771G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln396His	missense variant	-	NC_000016.10:g.52439768C>G	NCI-TCGA
rs1231964775	p.Ile397Phe	missense variant	-	NC_000016.10:g.52439767T>A	gnomAD
rs1231964775	p.Ile397Val	missense variant	-	NC_000016.10:g.52439767T>C	gnomAD
NCI-TCGA novel	p.Ile397Asn	missense variant	-	NC_000016.10:g.52439766A>T	NCI-TCGA
rs545781302	p.Val398Phe	missense variant	-	NC_000016.10:g.52439764C>A	1000Genomes
rs1294465822	p.Ser400Leu	missense variant	-	NC_000016.10:g.52439757G>A	gnomAD
rs1294465822	p.Ser400Ter	stop gained	-	NC_000016.10:g.52439757G>C	gnomAD
rs751507413	p.Val401Phe	missense variant	-	NC_000016.10:g.52439755C>A	ExAC,gnomAD
rs763944853	p.Thr402Ile	missense variant	-	NC_000016.10:g.52439751G>A	ExAC,gnomAD
rs183745522	p.Ile403Thr	missense variant	-	NC_000016.10:g.52439748A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769532592	p.Ala405Val	missense variant	-	NC_000016.10:g.52439742G>A	ExAC,gnomAD
rs191245327	p.Ala405Thr	missense variant	-	NC_000016.10:g.52439743C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs187946572	p.Asn406Ser	missense variant	-	NC_000016.10:g.52439739T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776227810	p.Met407Ile	missense variant	-	NC_000016.10:g.52439735C>T	ExAC,gnomAD
rs1459785335	p.Met407Leu	missense variant	-	NC_000016.10:g.52439737T>G	gnomAD
COSM435377	p.Pro408Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52439733G>A	NCI-TCGA Cosmic
rs892204132	p.Pro408Ala	missense variant	-	NC_000016.10:g.52439734G>C	TOPMed
rs568242113	p.Ser409Trp	missense variant	-	NC_000016.10:g.52439730G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs568242113	p.Ser409Leu	missense variant	-	NC_000016.10:g.52439730G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769039398	p.Ile411Met	missense variant	-	NC_000016.10:g.52439723A>C	ExAC,TOPMed,gnomAD
rs777979701	p.Ile411Thr	missense variant	-	NC_000016.10:g.52439724A>G	ExAC,gnomAD
rs748687119	p.Ile411Phe	missense variant	-	NC_000016.10:g.52439725T>A	ExAC,TOPMed,gnomAD
rs748687119	p.Ile411Leu	missense variant	-	NC_000016.10:g.52439725T>G	ExAC,TOPMed,gnomAD
rs756261947	p.Ala413Ser	missense variant	-	NC_000016.10:g.52439719C>A	ExAC,TOPMed,gnomAD
rs756261947	p.Ala413Pro	missense variant	-	NC_000016.10:g.52439719C>G	ExAC,TOPMed,gnomAD
rs746103477	p.Ala413Asp	missense variant	-	NC_000016.10:g.52439718G>T	ExAC,TOPMed,gnomAD
rs756261947	p.Ala413Thr	missense variant	-	NC_000016.10:g.52439719C>T	ExAC,TOPMed,gnomAD
rs1274279562	p.Leu415Gln	missense variant	-	NC_000016.10:g.52439712A>T	gnomAD
NCI-TCGA novel	p.Ser417Ile	missense variant	-	NC_000016.10:g.52439706C>A	NCI-TCGA
NCI-TCGA novel	p.Ser418Thr	missense variant	-	NC_000016.10:g.52439704A>T	NCI-TCGA
NCI-TCGA novel	p.Met419Ile	missense variant	-	NC_000016.10:g.52439699C>A	NCI-TCGA
rs757346831	p.Met419Val	missense variant	-	NC_000016.10:g.52439701T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly420Glu	missense variant	-	NC_000016.10:g.52439697C>T	NCI-TCGA
rs756186491	p.Gly420Arg	missense variant	-	NC_000016.10:g.52439698C>T	TOPMed,gnomAD
rs751494331	p.Thr421Met	missense variant	-	NC_000016.10:g.52439694G>A	ExAC,TOPMed,gnomAD
rs936518141	p.Thr421Ala	missense variant	-	NC_000016.10:g.52439695T>C	TOPMed,gnomAD
rs751494331	p.Thr421Lys	missense variant	-	NC_000016.10:g.52439694G>T	ExAC,TOPMed,gnomAD
rs752368834	p.Thr422Asn	missense variant	-	NC_000016.10:g.52439691G>T	ExAC,gnomAD
rs890865493	p.Met423Ile	missense variant	-	NC_000016.10:g.52439687C>A	TOPMed
rs890865493	p.Met423Ile	missense variant	-	NC_000016.10:g.52439687C>T	TOPMed
rs765141298	p.Met423Thr	missense variant	-	NC_000016.10:g.52439688A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val424Phe	missense variant	-	NC_000016.10:g.52439686C>A	NCI-TCGA
rs759253837	p.Gly425Asp	missense variant	-	NC_000016.10:g.52439682C>T	ExAC,gnomAD
rs372487403	p.Ala427Gly	missense variant	-	NC_000016.10:g.52439676G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372487403	p.Ala427Val	missense variant	-	NC_000016.10:g.52439676G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala427Thr	missense variant	-	NC_000016.10:g.52439677C>T	NCI-TCGA
rs772796688	p.Ser429Phe	missense variant	-	NC_000016.10:g.52439670G>A	ExAC,gnomAD
rs775772232	p.Ser433Asn	missense variant	-	NC_000016.10:g.52439658C>T	ExAC,TOPMed,gnomAD
rs146046759	p.Ser435Leu	missense variant	-	NC_000016.10:g.52439652G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs552173538	p.Val436Met	missense variant	-	NC_000016.10:g.52439650C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373983179	p.Gln440Pro	missense variant	-	NC_000016.10:g.52439637T>G	ESP,ExAC,TOPMed,gnomAD
rs752742451	p.Gln440His	missense variant	-	NC_000016.10:g.52439636C>G	ExAC,TOPMed,gnomAD
rs1205599603	p.Gln440Lys	missense variant	-	NC_000016.10:g.52439638G>T	gnomAD
rs758308915	p.His441Arg	missense variant	-	NC_000016.10:g.52439634T>C	TOPMed
rs1233920676	p.Met443Thr	missense variant	-	NC_000016.10:g.52439628A>G	gnomAD
rs765123140	p.Gln444His	missense variant	-	NC_000016.10:g.52439624T>A	ExAC,TOPMed,gnomAD
rs753514770	p.Leu445Phe	missense variant	-	NC_000016.10:g.52439621C>A	ExAC,TOPMed,gnomAD
rs763634129	p.Leu445TerMet	stop gained	-	NC_000016.10:g.52439622_52439623insTCT	ExAC
NCI-TCGA novel	p.Gln449His	missense variant	-	NC_000016.10:g.52439609C>A	NCI-TCGA
rs532347689	p.Gln450His	missense variant	-	NC_000016.10:g.52439606C>A	1000Genomes
rs1371029891	p.Gln450Arg	missense variant	-	NC_000016.10:g.52439607T>C	gnomAD
rs1490789788	p.Gln451Arg	missense variant	-	NC_000016.10:g.52439604T>C	TOPMed
rs1442582134	p.Gln452Arg	missense variant	-	NC_000016.10:g.52439601T>C	gnomAD
rs371792651	p.Met456Thr	missense variant	-	NC_000016.10:g.52439589A>G	ESP,ExAC,gnomAD
rs1164393813	p.Met456Leu	missense variant	-	NC_000016.10:g.52439590T>G	TOPMed
rs371792651	p.Met456Lys	missense variant	-	NC_000016.10:g.52439589A>T	ESP,ExAC,gnomAD
rs772527716	p.Met456Ile	missense variant	-	NC_000016.10:g.52439588C>G	ExAC,TOPMed,gnomAD
rs1433784908	p.Gln457Leu	missense variant	-	NC_000016.10:g.52439586T>A	gnomAD
rs767066309	p.Met459Val	missense variant	-	NC_000016.10:g.52439581T>C	ExAC,gnomAD
rs1416810306	p.Gln462Lys	missense variant	-	NC_000016.10:g.52439572G>T	gnomAD
rs776043888	p.Gln466Lys	missense variant	-	NC_000016.10:g.52439560G>T	ExAC,TOPMed,gnomAD
rs770112295	p.His467Asp	missense variant	-	NC_000016.10:g.52439557G>C	ExAC,gnomAD
COSM1230099	p.Met469Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52439549C>T	NCI-TCGA Cosmic
rs1393148570	p.Met469Ile	missense variant	-	NC_000016.10:g.52439549C>G	TOPMed
rs759846240	p.Gln472His	missense variant	-	NC_000016.10:g.52439540T>A	ExAC,gnomAD
rs1282768190	p.Ile473Thr	missense variant	-	NC_000016.10:g.52439538A>G	gnomAD
NCI-TCGA novel	p.Gln479His	missense variant	-	NC_000016.10:g.52439519C>A	NCI-TCGA
rs1238197095	p.Gln480Pro	missense variant	-	NC_000016.10:g.52439517T>G	TOPMed
rs371036139	p.His484Asn	missense variant	-	NC_000016.10:g.52439506G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1352089399	p.His484Arg	missense variant	-	NC_000016.10:g.52439505T>C	gnomAD
rs371036139	p.His484Tyr	missense variant	-	NC_000016.10:g.52439506G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1413762070	p.His485Tyr	missense variant	-	NC_000016.10:g.52439503G>A	gnomAD
rs1314359161	p.His489Leu	missense variant	-	NC_000016.10:g.52439490T>A	gnomAD
rs1243515097	p.His489Tyr	missense variant	-	NC_000016.10:g.52439491G>A	TOPMed
rs1362774895	p.Leu490Val	missense variant	-	NC_000016.10:g.52439488G>C	TOPMed,gnomAD
rs1160468177	p.Gln492Arg	missense variant	-	NC_000016.10:g.52439481T>C	TOPMed,gnomAD
rs1421442490	p.Gln493Lys	missense variant	-	NC_000016.10:g.52439479G>T	TOPMed,gnomAD
rs376306249	p.Gln495His	missense variant	-	NC_000016.10:g.52439471C>A	ESP,ExAC,TOPMed,gnomAD
rs949337795	p.Gln499Lys	missense variant	-	NC_000016.10:g.52439461G>T	TOPMed,gnomAD
rs1259790811	p.Gln500Ter	stop gained	-	NC_000016.10:g.52439458G>A	gnomAD
NCI-TCGA novel	p.Gln500Glu	missense variant	-	NC_000016.10:g.52439458G>C	NCI-TCGA
rs779046511	p.Gln500Arg	missense variant	-	NC_000016.10:g.52439457T>C	ExAC,TOPMed,gnomAD
rs1303070989	p.Asn502Ser	missense variant	-	NC_000016.10:g.52439451T>C	TOPMed,gnomAD
rs1057157420	p.Leu506Pro	missense variant	-	NC_000016.10:g.52439439A>G	TOPMed
COSM3818083	p.Gln507Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.52439437G>A	NCI-TCGA Cosmic
rs1261455233	p.Gln507Arg	missense variant	-	NC_000016.10:g.52439436T>C	gnomAD
rs1291384563	p.Gln509Glu	missense variant	-	NC_000016.10:g.52439431G>C	gnomAD
rs955125665	p.Leu510Gln	missense variant	-	NC_000016.10:g.52439427A>T	TOPMed
rs200998313	p.Arg513Cys	missense variant	-	NC_000016.10:g.52439419G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200998313	p.Arg513Ser	missense variant	-	NC_000016.10:g.52439419G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1249328563	p.Arg513His	missense variant	-	NC_000016.10:g.52439418C>T	TOPMed
NCI-TCGA novel	p.Gln517Leu	missense variant	-	NC_000016.10:g.52439406T>A	NCI-TCGA
rs142789789	p.Gln518His	missense variant	-	NC_000016.10:g.52439402C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750146496	p.His521Tyr	missense variant	-	NC_000016.10:g.52439395G>A	ExAC,TOPMed,gnomAD
rs750146496	p.His521Asp	missense variant	-	NC_000016.10:g.52439395G>C	ExAC,TOPMed,gnomAD
rs1168580565	p.Met522Ile	missense variant	-	NC_000016.10:g.52439390C>T	TOPMed
rs1430729304	p.Met522Leu	missense variant	-	NC_000016.10:g.52439392T>A	TOPMed
rs1420546629	p.His524Leu	missense variant	-	NC_000016.10:g.52439385T>A	gnomAD
rs1191296889	p.Gln525Pro	missense variant	-	NC_000016.10:g.52439382T>G	gnomAD
rs761352778	p.Pro528Arg	missense variant	-	NC_000016.10:g.52439373G>C	ExAC,TOPMed,gnomAD
rs761352778	p.Pro528Leu	missense variant	-	NC_000016.10:g.52439373G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser529MetPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52439371_52439372insGTGGCAT	NCI-TCGA
rs765694161	p.Pro530Ser	missense variant	-	NC_000016.10:g.52439368G>A	ExAC,TOPMed,gnomAD
rs921473080	p.Arg531Gly	missense variant	-	NC_000016.10:g.52439365G>C	TOPMed,gnomAD
rs921473080	p.Arg531Trp	missense variant	-	NC_000016.10:g.52439365G>A	TOPMed,gnomAD
rs368895361	p.Arg531Gln	missense variant	-	NC_000016.10:g.52439364C>T	ESP,ExAC,TOPMed,gnomAD
rs1335235301	p.Gln532Ter	stop gained	-	NC_000016.10:g.52439362G>A	gnomAD
rs1047240525	p.His533Tyr	missense variant	-	NC_000016.10:g.52439359G>A	TOPMed,gnomAD
rs771386648	p.Ser534Phe	missense variant	-	NC_000016.10:g.52439355G>A	ExAC,gnomAD
rs771386648	p.Ser534Tyr	missense variant	-	NC_000016.10:g.52439355G>T	ExAC,gnomAD
rs183247983	p.Pro535Ser	missense variant	-	NC_000016.10:g.52439353G>A	1000Genomes,ExAC,gnomAD
rs748186013	p.Val536Ile	missense variant	-	NC_000016.10:g.52439350C>T	ExAC,TOPMed,gnomAD
rs768645667	p.Ala537Thr	missense variant	-	NC_000016.10:g.52439347C>T	ExAC,gnomAD
rs749247384	p.Ser538Cys	missense variant	-	NC_000016.10:g.52439343G>C	ExAC,gnomAD
rs1166564030	p.Gln539His	missense variant	-	NC_000016.10:g.52439339C>A	gnomAD
rs779699137	p.Thr541Arg	missense variant	-	NC_000016.10:g.52439334G>C	ExAC,gnomAD
rs756001275	p.Ser542Thr	missense variant	-	NC_000016.10:g.52439332A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser542Phe	missense variant	-	NC_000016.10:g.52439331G>A	NCI-TCGA
rs988379472	p.Ser542Cys	missense variant	-	NC_000016.10:g.52439331G>C	gnomAD
rs868557969	p.Pro543Thr	missense variant	-	NC_000016.10:g.52439329G>T	gnomAD
rs868557969	p.Pro543Ser	missense variant	-	NC_000016.10:g.52439329G>A	gnomAD
NCI-TCGA novel	p.Ile544SerPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.52439327G>-	NCI-TCGA
rs1253147640	p.Ile547Thr	missense variant	-	NC_000016.10:g.52439316A>G	gnomAD
NCI-TCGA novel	p.Ile547Met	missense variant	-	NC_000016.10:g.52439315G>C	NCI-TCGA
rs780946418	p.Ile547Leu	missense variant	-	NC_000016.10:g.52439317T>G	ExAC,gnomAD
rs751004511	p.Gly548Arg	missense variant	-	NC_000016.10:g.52439314C>T	ExAC,TOPMed,gnomAD
rs1203576992	p.Ser549Asn	missense variant	-	NC_000016.10:g.52439310C>T	TOPMed
rs763609312	p.Ser549Arg	missense variant	-	NC_000016.10:g.52439309G>C	ExAC,gnomAD
rs1182357054	p.Gln551Arg	missense variant	-	NC_000016.10:g.52439304T>C	gnomAD
rs1251471275	p.Ala553Thr	missense variant	-	NC_000016.10:g.52439299C>T	gnomAD
rs760024219	p.Ala553Val	missense variant	-	NC_000016.10:g.52439298G>A	ExAC
rs1487018769	p.Ser554Cys	missense variant	-	NC_000016.10:g.52439295G>C	TOPMed
rs766624179	p.Gln555Arg	missense variant	-	NC_000016.10:g.52439292T>C	ExAC,gnomAD
rs761154956	p.Gln556Arg	missense variant	-	NC_000016.10:g.52439289T>C	ExAC,TOPMed,gnomAD
rs1333283825	p.Gln556His	missense variant	-	NC_000016.10:g.52439288C>A	TOPMed,gnomAD
rs1327469472	p.His557Tyr	missense variant	-	NC_000016.10:g.52439287G>A	gnomAD
rs773476008	p.His557Gln	missense variant	-	NC_000016.10:g.52439285G>C	ExAC,gnomAD
rs1391110847	p.His557Arg	missense variant	-	NC_000016.10:g.52439286T>C	gnomAD
NCI-TCGA novel	p.Gln558His	missense variant	-	NC_000016.10:g.52439282C>A	NCI-TCGA
rs767805399	p.Ser559Leu	missense variant	-	NC_000016.10:g.52439280G>A	ExAC,TOPMed,gnomAD
rs774512166	p.Ile561Thr	missense variant	-	NC_000016.10:g.52439274A>G	ExAC,gnomAD
rs1174291926	p.Gln562Arg	missense variant	-	NC_000016.10:g.52439271T>C	gnomAD
rs1379231704	p.Ser563Pro	missense variant	-	NC_000016.10:g.52439269A>G	gnomAD
NCI-TCGA novel	p.Gln568Pro	missense variant	-	NC_000016.10:g.52439253T>G	NCI-TCGA
rs753536775	p.Leu570Phe	missense variant	-	NC_000016.10:g.52439246T>A	TOPMed
rs13332816	p.Gln572Pro	missense variant	-	NC_000016.10:g.52439241T>G	TOPMed
rs13332816	p.Gln572Arg	missense variant	-	NC_000016.10:g.52439241T>C	TOPMed
rs1345231851	p.Val573Phe	missense variant	-	NC_000016.10:g.52439239C>A	gnomAD
rs1345231851	p.Val573Ile	missense variant	-	NC_000016.10:g.52439239C>T	gnomAD
rs749232719	p.Ile575Val	missense variant	-	NC_000016.10:g.52439233T>C	ExAC,TOPMed
rs1206815248	p.Phe576Ser	missense variant	-	NC_000016.10:g.52439229A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0007104	Female Breast Carcinoma	disease	BEFREE
C0023903	Liver neoplasms	group	CTD_human
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0035258	Restless Legs Syndrome	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0154084	Stage 0 Breast Carcinoma	disease	BEFREE
C0235653	Malignant neoplasm of female breast	disease	BEFREE
C0238033	Carcinoma of Male Breast	disease	BEFREE;CTD_human
C0242787	Malignant neoplasm of male breast	disease	BEFREE
C0242788	Breast Neoplasms, Male	group	CTD_human
C0345904	Malignant neoplasm of liver	disease	CTD_human
C0346153	Breast Cancer, Familial	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human;GWASCAT;GWASDB
C0699791	Stomach Carcinoma	disease	BEFREE
C0849668	peri-menopausal	phenotype	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human
C2939419	Secondary Neoplasm	group	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3642345	Luminal A Breast Carcinoma	disease	BEFREE
C3642346	Luminal B Breast Carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0003682	chromatin binding	IDA
GO:0005515	protein binding	IPI
GO:0034056	estrogen response element binding	IDA
GO:0042803	protein homodimerization activity	IDA
GO:0051219	phosphoprotein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006357	regulation of transcription by RNA polymerase II	IEA
GO:0006915	apoptotic process	IEA
GO:0042981	regulation of apoptotic process	IDA
GO:0043524	negative regulation of neuron apoptotic process	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005829	cytosol	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of TOX3 mRNA	25510870
C029141	2,2,5,7,8-pentamethyl-1-hydroxychroman	2,2,5,7,8-pentamethyl-1-hydroxychroman results in increased expression of TOX3 mRNA	21920950
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of TOX3 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of TOX3 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of TOX3 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of TOX3 mRNA	25510870
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 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 TOX3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 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 decreased expression of TOX3 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 decreased expression of TOX3 mRNA	27188386
C496492	abrine	abrine results in increased expression of TOX3 mRNA	31054353
D020106	Acrylamide	Acrylamide results in decreased expression of TOX3 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of TOX3 mRNA	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of TOX3 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of TOX3 promoter	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of TOX3 mRNA	23630614; 25378103;
C029753	aflatoxin B2	aflatoxin B2 affects the methylation of TOX3 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of TOX3 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TOX3 mRNA	21632981
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TOX3 mRNA	21569818
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of TOX3 mRNA	26377693
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of TOX3 intron	30157460
C006780	bisphenol A	bisphenol A results in decreased expression of TOX3 mRNA	25181051
D002117	Calcitriol	Calcitriol results in increased expression of TOX3 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of TOX3 mRNA	21592394
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of TOX3 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of TOX3 mRNA]	31150632
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TOX3 mRNA	20938992
D002945	Cisplatin	Cisplatin affects the expression of TOX3 mRNA	23300844
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of TOX3 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of TOX3 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of TOX3 mRNA	22023808
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of TOX3 mRNA	19376846
D003300	Copper	Copper deficiency results in decreased expression of TOX3 mRNA	26033743
D016572	Cyclosporine	Cyclosporine results in increased expression of TOX3 mRNA	20106945; 27989131;
D000077209	Decitabine	Decitabine affects the expression of TOX3 mRNA	23300844
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of TOX3 mRNA	31163220
D004237	Diuron	Diuron results in decreased expression of TOX3 mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 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 TOX3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 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 decreased expression of TOX3 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 decreased expression of TOX3 mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of TOX3 mRNA	29391264
C118739	entinostat	entinostat results in decreased expression of TOX3 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of TOX3 mRNA	20660070
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of TOX3 mRNA	19619570
D004958	Estradiol	Estradiol results in increased expression of TOX3 mRNA	19619570; 20106945;
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of TOX3 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of TOX3 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TOX3 mRNA	17942748
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TOX3 mRNA	20938992
C010974	glyphosate	glyphosate results in increased methylation of TOX3 gene	31011160
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of TOX3 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of TOX3 mRNA	27392435
D007854	Lead	Lead affects the expression of TOX3 mRNA	28903495
D000077339	Leflunomide	Leflunomide results in increased expression of TOX3 mRNA	28988120
D008628	Mercury	Mercury results in increased expression of TOX3 mRNA	16823088
D008701	Methapyrilene	Methapyrilene affects the methylation of TOX3 intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TOX3 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of TOX3 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of TOX3 mRNA	26011545
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of TOX3 mRNA	29191790
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate affects the expression of TOX3 mRNA	21195148
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of TOX3 mRNA	21195148
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of TOX3 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of TOX3 mRNA	25554681
D019829	Nevirapine	Nevirapine results in increased expression of TOX3 mRNA	23947594
D009532	Nickel	Nickel results in decreased expression of TOX3 mRNA	24768652; 25583101;
C007350	nitrofen	nitrofen results in decreased expression of TOX3 mRNA	26720608
D009966	Orphenadrine	Orphenadrine affects the expression of TOX3 mRNA	23665939
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of TOX3 mRNA	30529165
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of TOX3 mRNA	26272509
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of TOX3 mRNA	25510870
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 TOX3 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of TOX3 mRNA	26272509
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of TOX3 mRNA	20660070
D011441	Propylthiouracil	Propylthiouracil affects the expression of TOX3 mRNA	24780913
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of TOX3 mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of TOX3 mRNA	25895662
D053260	Soot	Soot results in decreased expression of TOX3 mRNA	26551751
D013629	Tamoxifen	Tamoxifen affects the expression of TOX3 mRNA	17555576
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of TOX3 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of TOX3 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of TOX3 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TOX3 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TOX3 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TOX3 mRNA	17942748; 19465110;
D013853	Thioacetamide	Thioacetamide results in increased expression of TOX3 mRNA	23411599
D014212	Tretinoin	Tretinoin results in decreased expression of TOX3 mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of TOX3 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of TOX3 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in increased expression of TOX3 mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of TOX3 mRNA	26179874
D014520	Urethane	Urethane results in decreased expression of TOX3 mRNA	28818685
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 decreased expression of TOX3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of TOX3 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of TOX3 mRNA	23179753; 24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of TOX3 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of TOX3 mRNA	29154799
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 decreased expression of TOX3 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0025	Alternative splicing
KW-0053	Apoptosis
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009071	HMG_box_dom
IPR036910	HMG_box_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS50118	HMG_BOX_2

Pfam

Pfam ID	Pfam Term
PF00505	HMG_box

Gene: TOX3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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