CleftGeneDB-Search

Gene: TAF1B

Basic information

Tag	Content
Uniprot ID	Q53T94; B4DI42; F8WD72; Q15574; Q8WVC3;
Entrez ID	9014
Genbank protein ID	AAA62863.1; AAH18137.1; BAG58354.1; AAX93272.1;
Genbank nucleotide ID	NM_001318976.1; NM_005680.2;
Ensembl protein ID	ENSP00000263663
Ensembl nucleotide ID	ENSG00000115750
Gene name	TATA box-binding protein-associated factor RNA polymerase I subunit B
Gene symbol	TAF1B
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	28232668
Functional description	Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcription. Binds rDNA promoters and plays a role in Pol I recruitment as a component of the SL1/TIF-IB complex and, possibly, directly through its interaction with RRN3.
Sequence	MDLEEAEEFK ERCTQCAAVS WGLTDEGKYY CTSCHNVTER YQEVTNTDLI PNTQIKALNR 60 GLKKKNNTEK GWDWYVCEGF QYILYQQAEA LKNLGVGPEL KNDVLHNFWK RYLQKSKQAY 120 CKNPVYTTGR KPTVLEDNLS HSDWASEPEL LSDVSCPPFL ESGAESQSDI HTRKPFPVSK 180 ASQSETSVCS GSLDGVEYSQ RKEKGIVKMT MPQTLAFCYL SLLWQREAIT LSDLLRFVEE 240 DHIPYINAFQ HFPEQMKLYG RDRGIFGIES WPDYEDIYKK TVEVGTFLDL PRFPDITEDC 300 YLHPNILCMK YLMEVNLPDE MHSLTCHVVK MTGMGEVDFL TFDPIAKMAK TVKYDVQAVA 360 IIVVVLKLLF LLDDSFEWSL SNLAEKHNEK NKKDKPWFDF RKWYQIMKKA FDEKKQKWEE 420 ARAKYLWKSE KPLYYSFVDK PVAYKKREMV VNLQKQFSTL VESTATAGKK SPSSFQFNWT 480 EEDTDRTCFH GHSLQGVLKE KGQSLLTKNS LYWLSTQKFC RCYCTHVTTY EESNYSLSYQ 540 FILNLFSFLL RIKTSLLHEE VSLVEKKLFE KKYSVKRKKS RSKKVRRH 588

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	TAF1B	511236	Q1JQD6	Bos taurus	Prediction	More>>
1:1 ortholog	TAF1B	100684854	F1PFZ2	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TAF1B	102186603	A0A452EIN8	Capra hircus	Prediction	More>>
1:1 ortholog	TAF1B	9014	Q53T94	Homo sapiens	Publication	More>>
1:1 ortholog	Taf1b	21340	P97358	Mus musculus	Prediction	More>>
1:1 ortholog	TAF1B	459022	H2QHF2	Pan troglodytes	Prediction	More>>
1:1 ortholog	TAF1B		F1SA99	Sus scrofa	Prediction	More>>
1:1 ortholog	Taf1b	690450	D3ZYB7	Rattus norvegicus	Prediction	More>>
1:1 ortholog	taf1b		F1R3W0	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TAF1B	rs287980A>G	GWAS	28232668
TAF1B	rs287982A>G	GWAS	28232668

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1202169395	p.Asp2Glu	missense variant	-	NC_000002.12:g.9843547C>A	gnomAD
rs770155197	p.Leu3Val	missense variant	-	NC_000002.12:g.9843548C>G	ExAC,TOPMed,gnomAD
rs770155197	p.Leu3Ile	missense variant	-	NC_000002.12:g.9843548C>A	ExAC,TOPMed,gnomAD
rs763266367	p.Glu4Asp	missense variant	-	NC_000002.12:g.9843553G>T	ExAC,TOPMed,gnomAD
rs1443495524	p.Glu5Lys	missense variant	-	NC_000002.12:g.9843554G>A	gnomAD
rs1443495524	p.Glu5Ter	stop gained	-	NC_000002.12:g.9843554G>T	gnomAD
rs17856563	p.Ala6Gly	missense variant	-	NC_000002.12:g.9843558C>G	gnomAD
rs2303914	p.Ala6Ser	missense variant	-	NC_000002.12:g.9843557G>T	UniProt,dbSNP
VAR_029378	p.Ala6Ser	missense variant	-	NC_000002.12:g.9843557G>T	UniProt
rs2303914	p.Ala6Ser	missense variant	-	NC_000002.12:g.9843557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs17856563	p.Ala6Val	missense variant	-	NC_000002.12:g.9843558C>T	gnomAD
rs2303914	p.Ala6Thr	missense variant	-	NC_000002.12:g.9843557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183084559	p.Lys10Gln	missense variant	-	NC_000002.12:g.9845229A>C	gnomAD
rs750356942	p.Arg12Ser	missense variant	-	NC_000002.12:g.9845235C>A	ExAC,gnomAD
rs750356942	p.Arg12Cys	missense variant	-	NC_000002.12:g.9845235C>T	ExAC,gnomAD
rs762718516	p.Arg12His	missense variant	-	NC_000002.12:g.9845236G>A	ExAC,TOPMed,gnomAD
rs751180434	p.Thr14Ala	missense variant	-	NC_000002.12:g.9845241A>G	ExAC,gnomAD
rs755597362	p.Gly22Arg	missense variant	-	NC_000002.12:g.9845265G>C	ExAC,gnomAD
rs755597362	p.Gly22Cys	missense variant	-	NC_000002.12:g.9845265G>T	ExAC,gnomAD
rs1241071153	p.Glu26Gly	missense variant	-	NC_000002.12:g.9845278A>G	gnomAD
rs142457164	p.Tyr29His	missense variant	-	NC_000002.12:g.9845286T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs901902088	p.Thr32Ser	missense variant	-	NC_000002.12:g.9845295A>T	TOPMed
rs369560244	p.Thr32Ile	missense variant	-	NC_000002.12:g.9845296C>T	ESP,ExAC,TOPMed,gnomAD
rs997625329	p.Ser33Phe	missense variant	-	NC_000002.12:g.9845299C>T	TOPMed,gnomAD
rs374218229	p.Asn36Ser	missense variant	-	NC_000002.12:g.9845308A>G	ExAC,TOPMed,gnomAD
rs779280070	p.Val37Leu	missense variant	-	NC_000002.12:g.9845310G>C	ExAC,gnomAD
rs180788351	p.Thr38Ile	missense variant	-	NC_000002.12:g.9845314C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu39Lys	missense variant	-	NC_000002.12:g.9845316G>A	NCI-TCGA
rs760318770	p.Tyr41Cys	missense variant	-	NC_000002.12:g.9849377A>G	ExAC,gnomAD
rs1317822594	p.Glu43Ter	stop gained	-	NC_000002.12:g.9849382G>T	gnomAD
rs763535571	p.Glu43Asp	missense variant	-	NC_000002.12:g.9849384A>C	ExAC,gnomAD
rs753350535	p.Thr45Ala	missense variant	-	NC_000002.12:g.9849388A>G	ExAC,gnomAD
rs756692362	p.Thr47Ala	missense variant	-	NC_000002.12:g.9849394A>G	ExAC,gnomAD
rs1223175162	p.Thr47Asn	missense variant	-	NC_000002.12:g.9849395C>A	gnomAD
rs765896725	p.Asp48Asn	missense variant	-	NC_000002.12:g.9849397G>A	ExAC,TOPMed,gnomAD
rs1371430794	p.Pro51Leu	missense variant	-	NC_000002.12:g.9849407C>T	TOPMed
rs377410792	p.Asn52His	missense variant	-	NC_000002.12:g.9849409A>C	ESP,ExAC,TOPMed,gnomAD
rs1180950394	p.Gln54Lys	missense variant	-	NC_000002.12:g.9849415C>A	TOPMed,gnomAD
rs1420550441	p.Ile55Val	missense variant	-	NC_000002.12:g.9849418A>G	gnomAD
COSM4818437	p.Lys56Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9849421A>C	NCI-TCGA Cosmic
rs1324481726	p.Asn59Thr	missense variant	-	NC_000002.12:g.9849431A>C	TOPMed
rs375082859	p.Arg60Gln	missense variant	-	NC_000002.12:g.9849434G>A	ESP,ExAC,gnomAD
rs1367774974	p.Leu62Phe	missense variant	-	NC_000002.12:g.9849439C>T	gnomAD
rs539544418	p.Lys65Arg	missense variant	-	NC_000002.12:g.9849449A>G	1000Genomes,gnomAD
rs755182647	p.Asn66Ser	missense variant	-	NC_000002.12:g.9849452A>G	ExAC
rs755182647	p.Asn66Thr	missense variant	-	NC_000002.12:g.9849452A>C	ExAC
rs368500459	p.Asn66Lys	missense variant	-	NC_000002.12:g.9849453C>G	ESP,ExAC,TOPMed,gnomAD
rs368500459	p.Asn66Lys	missense variant	-	NC_000002.12:g.9849453C>A	ESP,ExAC,TOPMed,gnomAD
rs1005901185	p.Thr68Ala	missense variant	-	NC_000002.12:g.9849457A>G	TOPMed,gnomAD
rs553152964	p.Glu69Lys	missense variant	-	NC_000002.12:g.9849460G>A	1000Genomes,ExAC,gnomAD
rs1164484630	p.Lys70Arg	missense variant	-	NC_000002.12:g.9851544A>G	gnomAD
rs1179115640	p.Gly71Asp	missense variant	-	NC_000002.12:g.9851547G>A	TOPMed
rs761447111	p.Trp72Ter	stop gained	-	NC_000002.12:g.9851551G>A	ExAC,TOPMed,gnomAD
rs1467873336	p.Trp72Arg	missense variant	-	NC_000002.12:g.9851549T>C	TOPMed
rs1296669877	p.Asp73Asn	missense variant	-	NC_000002.12:g.9851552G>A	gnomAD
rs1399924195	p.Trp74Ter	stop gained	-	NC_000002.12:g.9851557G>A	gnomAD
rs778382213	p.TyrValCysGlu75TyrValTerUnk	stop gained	-	NC_000002.12:g.9851566_9851567del	ExAC,gnomAD
rs764838666	p.Cys77Tyr	missense variant	-	NC_000002.12:g.9851565G>A	ExAC,gnomAD
rs764838666	p.Cys77Phe	missense variant	-	NC_000002.12:g.9851565G>T	ExAC,gnomAD
COSM722710	p.Glu78Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9851567G>A	NCI-TCGA Cosmic
rs758923216	p.Phe80Cys	missense variant	-	NC_000002.12:g.9851574T>G	ExAC,gnomAD
rs766877817	p.Gln81Arg	missense variant	-	NC_000002.12:g.9851577A>G	ExAC,gnomAD
COSM3584376	p.Gln81Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9851576C>T	NCI-TCGA Cosmic
rs751991801	p.Tyr82Cys	missense variant	-	NC_000002.12:g.9851580A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu84Phe	missense variant	-	NC_000002.12:g.9851585C>T	NCI-TCGA
rs1324726548	p.Tyr85Cys	missense variant	-	NC_000002.12:g.9851589A>G	gnomAD
rs1250412117	p.Gln86Arg	missense variant	-	NC_000002.12:g.9851592A>G	gnomAD
rs755273405	p.Gln86Glu	missense variant	-	NC_000002.12:g.9851591C>G	ExAC,gnomAD
rs1461537823	p.Glu89Asp	missense variant	-	NC_000002.12:g.9851602A>T	gnomAD
rs781532765	p.Leu91Ter	stop gained	-	NC_000002.12:g.9851607T>A	ExAC,TOPMed,gnomAD
COSM722709	p.Lys92Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9851611G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys92Asn	missense variant	-	NC_000002.12:g.9851611G>T	NCI-TCGA
rs748312273	p.Asn93Lys	missense variant	-	NC_000002.12:g.9851614C>A	ExAC,TOPMed,gnomAD
rs777772609	p.Leu94His	missense variant	-	NC_000002.12:g.9851616T>A	ExAC,gnomAD
rs771958098	p.Gly95Glu	missense variant	-	NC_000002.12:g.9851619G>A	ExAC,gnomAD
rs779936896	p.Val96Ile	missense variant	-	NC_000002.12:g.9851621G>A	ExAC,gnomAD
rs764349893	p.Asp103Asn	missense variant	-	NC_000002.12:g.9854329G>A	ExAC,TOPMed,gnomAD
rs764349893	p.Asp103Tyr	missense variant	-	NC_000002.12:g.9854329G>T	ExAC,TOPMed,gnomAD
rs745454778	p.His106Arg	missense variant	-	NC_000002.12:g.9854339A>G	ExAC,gnomAD
rs889054404	p.Asn107Asp	missense variant	-	NC_000002.12:g.9854341A>G	TOPMed,gnomAD
rs778794346	p.Trp109Ter	stop gained	-	NC_000002.12:g.9854349G>A	ExAC,gnomAD
rs754826734	p.Arg111His	missense variant	-	NC_000002.12:g.9854354G>A	ExAC,gnomAD
rs751531546	p.Arg111Cys	missense variant	-	NC_000002.12:g.9854353C>T	ExAC,TOPMed,gnomAD
rs1410125114	p.Tyr112Asn	missense variant	-	NC_000002.12:g.9854356T>A	TOPMed,gnomAD
rs1330479671	p.Tyr112Cys	missense variant	-	NC_000002.12:g.9854357A>G	gnomAD
rs781149015	p.Leu113Phe	missense variant	-	NC_000002.12:g.9854359C>T	ExAC,TOPMed,gnomAD
rs748001884	p.Lys115Asn	missense variant	-	NC_000002.12:g.9854367G>C	ExAC,gnomAD
rs1384146273	p.Lys117Glu	missense variant	-	NC_000002.12:g.9854371A>G	gnomAD
rs867453438	p.Ala119Thr	missense variant	-	NC_000002.12:g.9854377G>A	gnomAD
rs1356111778	p.Pro124Ala	missense variant	-	NC_000002.12:g.9854392C>G	gnomAD
rs370063775	p.Thr127Asn	missense variant	-	NC_000002.12:g.9854402C>A	ESP,ExAC,TOPMed,gnomAD
rs370063775	p.Thr127Ile	missense variant	-	NC_000002.12:g.9854402C>T	ESP,ExAC,TOPMed,gnomAD
rs547652861	p.Thr128Ala	missense variant	-	NC_000002.12:g.9854404A>G	1000Genomes,ExAC,gnomAD
rs773684817	p.Thr133Met	missense variant	-	NC_000002.12:g.9854420C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu136Lys	missense variant	-	NC_000002.12:g.9868282G>A	NCI-TCGA
rs1462713261	p.Ser140Gly	missense variant	-	NC_000002.12:g.9868294A>G	gnomAD
rs752674845	p.His141Gln	missense variant	-	NC_000002.12:g.9868299T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser142Ter	stop gained	-	NC_000002.12:g.9868301C>G	NCI-TCGA
rs374272943	p.Ala145Asp	missense variant	-	NC_000002.12:g.9868310C>A	ESP,ExAC,TOPMed,gnomAD
rs1195024752	p.Ser146Gly	missense variant	-	NC_000002.12:g.9868312A>G	gnomAD
NCI-TCGA novel	p.Ser146Thr	missense variant	-	NC_000002.12:g.9868313G>C	NCI-TCGA
NCI-TCGA novel	p.Pro148Ser	missense variant	-	NC_000002.12:g.9868318C>T	NCI-TCGA
rs368173816	p.Pro148Thr	missense variant	-	NC_000002.12:g.9868318C>A	ESP
COSM1305452	p.Glu149Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9868321G>A	NCI-TCGA Cosmic
rs372393191	p.Glu149Val	missense variant	-	NC_000002.12:g.9868322A>T	ESP,ExAC,TOPMed,gnomAD
rs1430713661	p.Ser152Asn	missense variant	-	NC_000002.12:g.9868331G>A	gnomAD
rs771599303	p.Val154Ile	missense variant	-	NC_000002.12:g.9868336G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser155Arg	missense variant	-	NC_000002.12:g.9868341C>A	NCI-TCGA
rs1400495779	p.Cys156Tyr	missense variant	-	NC_000002.12:g.9868343G>A	TOPMed
rs776045935	p.Pro157Leu	missense variant	-	NC_000002.12:g.9868346C>T	ExAC,TOPMed,gnomAD
rs776045935	p.Pro157His	missense variant	-	NC_000002.12:g.9868346C>A	ExAC,TOPMed,gnomAD
rs747452457	p.Pro158Ala	missense variant	-	NC_000002.12:g.9868348C>G	ExAC,TOPMed,gnomAD
rs899819040	p.Phe159Leu	missense variant	-	NC_000002.12:g.9868351T>C	TOPMed
COSM440883	p.Leu160Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9868354C>T	NCI-TCGA Cosmic
rs377190633	p.Ala164Val	missense variant	-	NC_000002.12:g.9868367C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1346285876	p.Ala164Thr	missense variant	-	NC_000002.12:g.9868366G>A	gnomAD
rs377190633	p.Ala164Val	missense variant	-	NC_000002.12:g.9868367C>T	ESP,ExAC,TOPMed,gnomAD
rs377190633	p.Ala164Gly	missense variant	-	NC_000002.12:g.9868367C>G	ESP,ExAC,TOPMed,gnomAD
rs1399559523	p.Ser166Tyr	missense variant	-	NC_000002.12:g.9868373C>A	gnomAD
NCI-TCGA novel	p.Asp169Asn	missense variant	-	NC_000002.12:g.9868381G>A	NCI-TCGA
rs765423153	p.Ile170Thr	missense variant	-	NC_000002.12:g.9868385T>C	ExAC,gnomAD
rs1287188764	p.Ile170Val	missense variant	-	NC_000002.12:g.9868384A>G	gnomAD
NCI-TCGA novel	p.His171Asp	missense variant	-	NC_000002.12:g.9868387C>G	NCI-TCGA
rs1269872437	p.His171Arg	missense variant	-	NC_000002.12:g.9868388A>G	TOPMed
rs1255528571	p.Thr172Ile	missense variant	-	NC_000002.12:g.9868391C>T	gnomAD
rs11540127	p.Arg173Ter	stop gained	-	NC_000002.12:g.9868393C>T	ExAC,TOPMed,gnomAD
rs11540127	p.Arg173Ter	stop gained	-	NC_000002.12:g.9868393C>T	NCI-TCGA
rs1283547206	p.Arg173Gln	missense variant	-	NC_000002.12:g.9868394G>A	TOPMed,gnomAD
rs11540127	p.Arg173Gly	missense variant	-	NC_000002.12:g.9868393C>G	ExAC,TOPMed,gnomAD
rs1283547206	p.Arg173Pro	missense variant	-	NC_000002.12:g.9868394G>C	TOPMed,gnomAD
rs767376387	p.Pro175Arg	missense variant	-	NC_000002.12:g.9868400C>G	TOPMed,gnomAD
rs1224242785	p.Phe176Cys	missense variant	-	NC_000002.12:g.9868403T>G	TOPMed
rs1322771999	p.Pro177Arg	missense variant	-	NC_000002.12:g.9868406C>G	TOPMed
rs1315480671	p.Val178Ile	missense variant	-	NC_000002.12:g.9868408G>A	gnomAD
rs1315480671	p.Val178Ile	missense variant	-	NC_000002.12:g.9868408G>A	NCI-TCGA
rs756065462	p.Lys180Arg	missense variant	-	NC_000002.12:g.9868415A>G	ExAC,gnomAD
rs764011033	p.Ala181Thr	missense variant	-	NC_000002.12:g.9868417G>A	ExAC,TOPMed,gnomAD
rs1287921054	p.Ser182Leu	missense variant	-	NC_000002.12:g.9868421C>T	TOPMed
rs200450826	p.Glu185Gly	missense variant	-	NC_000002.12:g.9875865A>G	ESP,ExAC,TOPMed,gnomAD
rs557408710	p.Thr186Met	missense variant	-	NC_000002.12:g.9875868C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776497396	p.Thr186Ala	missense variant	-	NC_000002.12:g.9875867A>G	ExAC,gnomAD
rs557408710	p.Thr186Arg	missense variant	-	NC_000002.12:g.9875868C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs766038116	p.Ser190Pro	missense variant	-	NC_000002.12:g.9875879T>C	ExAC,gnomAD
rs751150455	p.Ser190Phe	missense variant	-	NC_000002.12:g.9875880C>T	ExAC,gnomAD
rs767003855	p.Ser192Tyr	missense variant	-	NC_000002.12:g.9875886C>A	ExAC,TOPMed,gnomAD
rs1380829874	p.Asp194Asn	missense variant	-	NC_000002.12:g.9875891G>A	TOPMed
rs1482592660	p.Gly195Arg	missense variant	-	NC_000002.12:g.9875894G>A	gnomAD
NCI-TCGA novel	p.Val196Asp	missense variant	-	NC_000002.12:g.9875898T>A	NCI-TCGA
rs552159103	p.Glu197Lys	missense variant	-	NC_000002.12:g.9875900G>A	gnomAD
rs756614764	p.Ser199Ter	stop gained	-	NC_000002.12:g.9875907C>G	ExAC,TOPMed,gnomAD
rs138664395	p.Arg201Gly	missense variant	-	NC_000002.12:g.9875912C>G	ESP,ExAC,TOPMed,gnomAD
rs150786470	p.Arg201Gln	missense variant	-	NC_000002.12:g.9875913G>A	ESP,ExAC,TOPMed,gnomAD
rs138664395	p.Arg201Ter	stop gained	-	NC_000002.12:g.9875912C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys202Asn	missense variant	-	NC_000002.12:g.9875917G>T	NCI-TCGA
rs1342160236	p.Lys202Arg	missense variant	-	NC_000002.12:g.9875916A>G	gnomAD
COSM3990473	p.Glu203Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9875918G>C	NCI-TCGA Cosmic
rs1355114246	p.Glu203Ala	missense variant	-	NC_000002.12:g.9875919A>C	TOPMed
rs1397676462	p.Gly205Arg	missense variant	-	NC_000002.12:g.9875924G>A	gnomAD
rs1277178386	p.Gly205Glu	missense variant	-	NC_000002.12:g.9875925G>A	gnomAD
rs1345816991	p.Ile206Phe	missense variant	-	NC_000002.12:g.9875927A>T	gnomAD
rs926311334	p.Val207Met	missense variant	-	NC_000002.12:g.9875930G>A	TOPMed
rs1275945631	p.Lys208Arg	missense variant	-	NC_000002.12:g.9875934A>G	gnomAD
rs937710557	p.Met209Leu	missense variant	-	NC_000002.12:g.9875936A>T	gnomAD
rs539814670	p.Met209Arg	missense variant	-	NC_000002.12:g.9875937T>G	1000Genomes,ExAC,gnomAD
COSM3971453	p.Met209Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9875936A>G	NCI-TCGA Cosmic
rs775615215	p.Met211Val	missense variant	-	NC_000002.12:g.9875942A>G	ExAC,gnomAD
rs1489471158	p.Pro212Ser	missense variant	-	NC_000002.12:g.9875945C>T	gnomAD
rs1424697685	p.Leu215His	missense variant	-	NC_000002.12:g.9875955T>A	TOPMed
NCI-TCGA novel	p.Ala216Val	missense variant	-	NC_000002.12:g.9875958C>T	NCI-TCGA
rs769798413	p.Ala216Asp	missense variant	-	NC_000002.12:g.9875958C>A	ExAC,TOPMed,gnomAD
rs772969033	p.Tyr219Phe	missense variant	-	NC_000002.12:g.9875967A>T	ExAC,TOPMed,gnomAD
rs772969033	p.Tyr219Cys	missense variant	-	NC_000002.12:g.9875967A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu220Met	missense variant	-	NC_000002.12:g.9875969C>A	NCI-TCGA
rs369390290	p.Ser221Pro	missense variant	-	NC_000002.12:g.9875972T>C	ESP,ExAC,gnomAD
rs759169652	p.Leu222Phe	missense variant	-	NC_000002.12:g.9875977A>C	ExAC,gnomAD
rs774051098	p.Leu222Val	missense variant	-	NC_000002.12:g.9875975T>G	ExAC,TOPMed,gnomAD
rs1252454996	p.Leu223Arg	missense variant	-	NC_000002.12:g.9875979T>G	TOPMed
rs766978729	p.Trp224Arg	missense variant	-	NC_000002.12:g.9875981T>C	ExAC,gnomAD
rs1297408955	p.Gln225Ter	stop gained	-	NC_000002.12:g.9875984C>T	gnomAD
rs752285375	p.Ala228Gly	missense variant	-	NC_000002.12:g.9875994C>G	ExAC,gnomAD
rs998035041	p.Ile229Val	missense variant	-	NC_000002.12:g.9875996A>G	TOPMed,gnomAD
rs1272527022	p.Thr230Ile	missense variant	-	NC_000002.12:g.9876000C>T	gnomAD
rs755531428	p.Leu231Pro	missense variant	-	NC_000002.12:g.9876003T>C	ExAC,gnomAD
rs1030426917	p.Ser232Thr	missense variant	-	NC_000002.12:g.9876005T>A	gnomAD
rs1030426917	p.Ser232Pro	missense variant	-	NC_000002.12:g.9876005T>C	gnomAD
rs764674984	p.Asp233Gly	missense variant	-	NC_000002.12:g.9876009A>G	ExAC,gnomAD
rs1357413122	p.Leu235Trp	missense variant	-	NC_000002.12:g.9876015T>G	TOPMed
rs1214863700	p.Arg236Thr	missense variant	-	NC_000002.12:g.9876018G>C	gnomAD
rs767221752	p.Arg236Ser	missense variant	-	NC_000002.12:g.9882706G>T	ExAC,TOPMed,gnomAD
rs1187321800	p.Phe237Val	missense variant	-	NC_000002.12:g.9882707T>G	TOPMed
rs760237041	p.His242Asn	missense variant	-	NC_000002.12:g.9882722C>A	ExAC,gnomAD
rs763507034	p.His242Arg	missense variant	-	NC_000002.12:g.9882723A>G	ExAC,gnomAD
rs1184790391	p.Asn247Tyr	missense variant	-	NC_000002.12:g.9882737A>T	TOPMed
rs896378037	p.Phe249Leu	missense variant	-	NC_000002.12:g.9882743T>C	TOPMed
rs754453093	p.Gln250His	missense variant	-	NC_000002.12:g.9882748G>C	ExAC,gnomAD
rs186506722	p.His251Arg	missense variant	-	NC_000002.12:g.9882750A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs762386268	p.His251Asn	missense variant	-	NC_000002.12:g.9882749C>A	ExAC,gnomAD
rs186506722	p.His251Leu	missense variant	-	NC_000002.12:g.9882750A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1473646307	p.Pro253Leu	missense variant	-	NC_000002.12:g.9882756C>T	gnomAD
rs140431230	p.Met256Val	missense variant	-	NC_000002.12:g.9882764A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1410212518	p.Lys257Asn	missense variant	-	NC_000002.12:g.9882769A>T	gnomAD
rs755147605	p.Leu258Phe	missense variant	-	NC_000002.12:g.9882772A>T	ExAC,gnomAD
rs147521086	p.Tyr259Cys	missense variant	-	NC_000002.12:g.9882774A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781113530	p.Tyr259His	missense variant	-	NC_000002.12:g.9882773T>C	ExAC,gnomAD
rs972127267	p.Arg261His	missense variant	-	NC_000002.12:g.9882780G>A	TOPMed,gnomAD
rs770888842	p.Arg261Cys	missense variant	-	NC_000002.12:g.9882779C>T	ExAC,gnomAD
rs1026757833	p.Ile265Leu	missense variant	-	NC_000002.12:g.9882791A>C	TOPMed
rs778775179	p.Gly267Asp	missense variant	-	NC_000002.12:g.9882798G>A	ExAC,TOPMed,gnomAD
rs778775179	p.Gly267Val	missense variant	-	NC_000002.12:g.9882798G>T	ExAC,TOPMed,gnomAD
rs1316154170	p.Ile268Thr	missense variant	-	NC_000002.12:g.9882801T>C	gnomAD
rs772211663	p.Ile268Val	missense variant	-	NC_000002.12:g.9882800A>G	ExAC,TOPMed,gnomAD
rs778828193	p.Ser270Phe	missense variant	-	NC_000002.12:g.9904860C>T	ExAC,gnomAD
rs1342577833	p.Trp271Gly	missense variant	-	NC_000002.12:g.9904862T>G	TOPMed
rs142976824	p.Pro272Ser	missense variant	-	NC_000002.12:g.9904865C>T	ESP,ExAC,TOPMed,gnomAD
rs142976824	p.Pro272Thr	missense variant	-	NC_000002.12:g.9904865C>A	ESP,ExAC,TOPMed,gnomAD
rs771960887	p.Asp273His	missense variant	-	NC_000002.12:g.9904868G>C	ExAC,TOPMed,gnomAD
rs76120746	p.Asp273Glu	missense variant	-	NC_000002.12:g.9904870C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1479258973	p.Tyr274Ter	stop gained	-	NC_000002.12:g.9904873C>G	TOPMed,gnomAD
rs768557866	p.Glu275Lys	missense variant	-	NC_000002.12:g.9904874G>A	ExAC,TOPMed,gnomAD
rs768222008	p.Ile277Thr	missense variant	-	NC_000002.12:g.9904881T>C	ExAC,gnomAD
COSM3729881	p.Tyr278Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9904885C>-	NCI-TCGA Cosmic
rs776371933	p.Tyr278Cys	missense variant	-	NC_000002.12:g.9904884A>G	ExAC
rs400917	p.Tyr278Ter	stop gained	-	NC_000002.12:g.9904885C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1358809324	p.Lys279Ter	stop gained	-	NC_000002.12:g.9904886A>T	gnomAD
rs763351690	p.Thr281Ile	missense variant	-	NC_000002.12:g.9904893C>T	ExAC,gnomAD
rs773917356	p.Thr281Ala	missense variant	-	NC_000002.12:g.9904892A>G	ExAC,TOPMed
rs396190	p.Val282Ile	missense variant	-	NC_000002.12:g.9904895G>A	UniProt,dbSNP
VAR_029379	p.Val282Ile	missense variant	-	NC_000002.12:g.9904895G>A	UniProt
rs396190	p.Val282Ile	missense variant	-	NC_000002.12:g.9904895G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs553591595	p.Val282Gly	missense variant	-	NC_000002.12:g.9904896T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs370486267	p.Glu283Ala	missense variant	-	NC_000002.12:g.9904899A>C	ESP,ExAC,gnomAD
rs1283662420	p.Leu290Trp	missense variant	-	NC_000002.12:g.9904920T>G	gnomAD
rs1046794771	p.Leu290Met	missense variant	-	NC_000002.12:g.9904919T>A	TOPMed
rs374536272	p.Arg292Cys	missense variant	-	NC_000002.12:g.9904925C>T	ESP,ExAC,gnomAD
rs16867223	p.Arg292His	missense variant	-	NC_000002.12:g.9904926G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4083719	p.Phe293Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9904929T>G	NCI-TCGA Cosmic
rs1268759925	p.Asp295Gly	missense variant	-	NC_000002.12:g.9904935A>G	TOPMed,gnomAD
rs1268759925	p.Asp295Val	missense variant	-	NC_000002.12:g.9904935A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Cys300Ter	stop gained	-	NC_000002.12:g.9904951C>A	NCI-TCGA
rs772224343	p.TyrLeuHis301Ter	stop gained	-	NC_000002.12:g.9904954_9904958del	ExAC,TOPMed
rs141776880	p.Tyr301Cys	missense variant	-	NC_000002.12:g.9904953A>G	1000Genomes,ESP,TOPMed
rs555519382	p.Leu302Arg	missense variant	-	NC_000002.12:g.9904956T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1353809637	p.His303Arg	missense variant	-	NC_000002.12:g.9904959A>G	TOPMed
rs575554596	p.His303Tyr	missense variant	-	NC_000002.12:g.9904958C>T	1000Genomes,ExAC,gnomAD
rs779999380	p.Asn305Ser	missense variant	-	NC_000002.12:g.9904965A>G	ExAC,TOPMed,gnomAD
rs1326829299	p.Ile306Val	missense variant	-	NC_000002.12:g.9904967A>G	TOPMed
rs138651506	p.Ile306Lys	missense variant	-	NC_000002.12:g.9904968T>A	ESP,ExAC,TOPMed,gnomAD
rs138651506	p.Ile306Thr	missense variant	-	NC_000002.12:g.9904968T>C	ESP,ExAC,TOPMed,gnomAD
rs754759809	p.Ile306Met	missense variant	-	NC_000002.12:g.9904969A>G	ExAC,TOPMed,gnomAD
rs771026771	p.Leu307Val	missense variant	-	NC_000002.12:g.9904970C>G	gnomAD
rs780992456	p.Met309Ile	missense variant	-	NC_000002.12:g.9904978G>A	ExAC,gnomAD
rs1183933060	p.Glu314Gly	missense variant	-	NC_000002.12:g.9904992A>G	TOPMed
rs903458724	p.Val315Ala	missense variant	-	NC_000002.12:g.9904995T>C	TOPMed
rs374893764	p.Pro318Ala	missense variant	-	NC_000002.12:g.9905003C>G	ESP,ExAC,gnomAD
rs374893764	p.Pro318Thr	missense variant	-	NC_000002.12:g.9905003C>A	ESP,ExAC,gnomAD
COSM1410311	p.Glu320Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9910738G>T	NCI-TCGA Cosmic
COSM715012	p.Glu320Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9910738G>A	NCI-TCGA Cosmic
rs375153400	p.Met321Ile	missense variant	-	NC_000002.12:g.9910743G>A	ESP,TOPMed
rs1314642871	p.His322Asp	missense variant	-	NC_000002.12:g.9910744C>G	gnomAD
rs61743065	p.Ser323Asn	missense variant	-	NC_000002.12:g.9910748G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755864987	p.Ser323Arg	missense variant	-	NC_000002.12:g.9910747A>C	ExAC,gnomAD
rs376640586	p.Leu324Ser	missense variant	-	NC_000002.12:g.9910751T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu324Phe	missense variant	-	NC_000002.12:g.9910752A>C	NCI-TCGA
rs1184573723	p.Thr325Ile	missense variant	-	NC_000002.12:g.9910754C>T	gnomAD
rs1341530430	p.Thr325Ser	missense variant	-	NC_000002.12:g.9910753A>T	TOPMed
rs746361667	p.Cys326Ter	stop gained	-	NC_000002.12:g.9910758C>A	ExAC,TOPMed,gnomAD
rs774787506	p.Cys326Tyr	missense variant	-	NC_000002.12:g.9910757G>A	ExAC,gnomAD
rs146798607	p.His327Leu	missense variant	-	NC_000002.12:g.9910760A>T	ExAC,TOPMed,gnomAD
rs146568033	p.His327Gln	missense variant	-	NC_000002.12:g.9910761C>A	ExAC,TOPMed,gnomAD
rs540281305	p.Val328Met	missense variant	-	NC_000002.12:g.9910762G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200551366	p.Val329Leu	missense variant	-	NC_000002.12:g.9910765G>T	1000Genomes,ExAC,gnomAD
rs200021053	p.Glu336Ter	stop gained	-	NC_000002.12:g.9910786G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751507059	p.Val337Leu	missense variant	-	NC_000002.12:g.9910789G>C	ExAC
rs1445195766	p.Asp338His	missense variant	-	NC_000002.12:g.9910792G>C	gnomAD
rs767527458	p.Phe342Leu	missense variant	-	NC_000002.12:g.9910804T>C	ExAC,gnomAD
rs752564710	p.Pro344Leu	missense variant	-	NC_000002.12:g.9910811C>T	ExAC,gnomAD
rs150357943	p.Ile345Val	missense variant	-	NC_000002.12:g.9910813A>G	ESP,ExAC,TOPMed,gnomAD
rs777297388	p.Ala346Asp	missense variant	-	NC_000002.12:g.9910817C>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys347Thr	missense variant	-	NC_000002.12:g.9910820A>C	NCI-TCGA
rs778463477	p.Thr351Ile	missense variant	-	NC_000002.12:g.9910832C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr351Asn	missense variant	-	NC_000002.12:g.9910832C>A	NCI-TCGA
rs1054565	p.Thr351Ala	missense variant	-	NC_000002.12:g.9910831A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778463477	p.Thr351Ser	missense variant	-	NC_000002.12:g.9910832C>G	ExAC,TOPMed,gnomAD
rs1216229654	p.Val352Ile	missense variant	-	NC_000002.12:g.9910834G>A	gnomAD
rs906671948	p.Asp355Asn	missense variant	-	NC_000002.12:g.9910843G>A	TOPMed
rs1211442083	p.Val356Ile	missense variant	-	NC_000002.12:g.9910846G>A	gnomAD
NCI-TCGA novel	p.Ala358Asp	missense variant	-	NC_000002.12:g.9910853C>A	NCI-TCGA
rs747384884	p.Ala358Thr	missense variant	-	NC_000002.12:g.9910852G>A	ExAC,gnomAD
rs1264127883	p.Ile361Val	missense variant	-	NC_000002.12:g.9910861A>G	gnomAD
rs768996210	p.Ile362Val	missense variant	-	NC_000002.12:g.9910864A>G	ExAC,gnomAD
rs202230715	p.Val363Met	missense variant	-	NC_000002.12:g.9910867G>A	ExAC,gnomAD
rs762078724	p.Val364Gly	missense variant	-	NC_000002.12:g.9910871T>G	ExAC,gnomAD
rs762078724	p.Val364Ala	missense variant	-	NC_000002.12:g.9910871T>C	ExAC,gnomAD
rs1249685243	p.Leu368Pro	missense variant	-	NC_000002.12:g.9910883T>C	TOPMed
rs1362010050	p.Phe370Leu	missense variant	-	NC_000002.12:g.9910890T>G	gnomAD
rs138046758	p.Ser375Gly	missense variant	-	NC_000002.12:g.9910903A>G	ESP,ExAC,gnomAD
rs369161786	p.Phe376Leu	missense variant	-	NC_000002.12:g.9910908C>A	ESP,ExAC,TOPMed,gnomAD
rs1220508649	p.Phe376Ser	missense variant	-	NC_000002.12:g.9910907T>C	TOPMed,gnomAD
rs150678685	p.Glu377Ter	stop gained	-	NC_000002.12:g.9910909G>T	ESP,TOPMed,gnomAD
rs150678685	p.Glu377Lys	missense variant	-	NC_000002.12:g.9910909G>A	ESP,TOPMed,gnomAD
rs1233987702	p.Trp378Ter	stop gained	-	NC_000002.12:g.9910913G>A	TOPMed,gnomAD
rs368058096	p.Ser379Tyr	missense variant	-	NC_000002.12:g.9911513C>A	-
rs1223799435	p.Leu380Phe	missense variant	-	NC_000002.12:g.9911517G>T	gnomAD
rs998156542	p.Lys386Glu	missense variant	-	NC_000002.12:g.9911533A>G	TOPMed
rs1356597225	p.His387Tyr	missense variant	-	NC_000002.12:g.9911536C>T	TOPMed
rs528962995	p.His387Pro	missense variant	-	NC_000002.12:g.9911537A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs528962995	p.His387Arg	missense variant	-	NC_000002.12:g.9911537A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775626545	p.His387Gln	missense variant	-	NC_000002.12:g.9911538T>A	ExAC,TOPMed,gnomAD
rs1437582272	p.Asn388Lys	missense variant	-	NC_000002.12:g.9911541T>A	gnomAD
rs1157819299	p.Glu389Lys	missense variant	-	NC_000002.12:g.9911542G>A	gnomAD
rs1356374140	p.Glu389Val	missense variant	-	NC_000002.12:g.9911543A>T	TOPMed
rs760641710	p.Asn391Lys	missense variant	-	NC_000002.12:g.9911550C>A	ExAC,TOPMed,gnomAD
rs763833813	p.Lys392Glu	missense variant	-	NC_000002.12:g.9911551A>G	ExAC,TOPMed,gnomAD
rs974608846	p.Lys392Arg	missense variant	-	NC_000002.12:g.9911552A>G	-
rs938711868	p.Asp394Gly	missense variant	-	NC_000002.12:g.9913159A>G	TOPMed,gnomAD
rs1179743719	p.Lys395Thr	missense variant	-	NC_000002.12:g.9913162A>C	gnomAD
rs908344751	p.Asp399Asn	missense variant	-	NC_000002.12:g.9913173G>A	TOPMed
rs1403022803	p.Met407Ile	missense variant	-	NC_000002.12:g.9913199G>A	TOPMed,gnomAD
rs755543298	p.Met407Thr	missense variant	-	NC_000002.12:g.9913198T>C	ExAC,gnomAD
COSM1004434	p.Lys408Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9913200A>T	NCI-TCGA Cosmic
rs1165485207	p.Ala410Val	missense variant	-	NC_000002.12:g.9913207C>T	TOPMed
rs75930871	p.Asp412His	missense variant	-	NC_000002.12:g.9913212G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748564258	p.Gln416Lys	missense variant	-	NC_000002.12:g.9913224C>A	ExAC,TOPMed,gnomAD
rs748564258	p.Gln416Glu	missense variant	-	NC_000002.12:g.9913224C>G	ExAC,TOPMed,gnomAD
rs756370212	p.Trp418Ter	stop gained	-	NC_000002.12:g.9913231G>A	ExAC,gnomAD
rs78987180	p.Trp418Arg	missense variant	-	NC_000002.12:g.9913230T>C	1000Genomes,ESP,TOPMed,gnomAD
rs778208649	p.Glu419Lys	missense variant	-	NC_000002.12:g.9913233G>A	ExAC,gnomAD
rs1291662268	p.Ala421Thr	missense variant	-	NC_000002.12:g.9913239G>A	TOPMed,gnomAD
rs1242137661	p.Tyr425Cys	missense variant	-	NC_000002.12:g.9919043A>G	gnomAD
rs201786959	p.Ser429Thr	missense variant	-	NC_000002.12:g.9919055G>C	ExAC,TOPMed,gnomAD
rs754275462	p.Ser429Arg	missense variant	-	NC_000002.12:g.9919056T>A	ExAC,gnomAD
rs757635868	p.Glu430Gly	missense variant	-	NC_000002.12:g.9919058A>G	ExAC,TOPMed,gnomAD
rs750604612	p.Leu433His	missense variant	-	NC_000002.12:g.9919067T>A	ExAC,gnomAD
rs748155417	p.Tyr434Ser	missense variant	-	NC_000002.12:g.9919070A>C	ExAC
rs779971167	p.Tyr434His	missense variant	-	NC_000002.12:g.9919069T>C	ExAC,gnomAD
rs769750721	p.Tyr435Phe	missense variant	-	NC_000002.12:g.9919073A>T	ExAC,gnomAD
rs367838899	p.Phe437Ser	missense variant	-	NC_000002.12:g.9919079T>C	ESP,TOPMed
rs777633538	p.Phe437Val	missense variant	-	NC_000002.12:g.9919078T>G	ExAC,TOPMed,gnomAD
rs1471738098	p.Val438Phe	missense variant	-	NC_000002.12:g.9919081G>T	TOPMed
rs1163845932	p.Asp439Gly	missense variant	-	NC_000002.12:g.9919085A>G	gnomAD
rs770713103	p.Asp439Asn	missense variant	-	NC_000002.12:g.9919084G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro441Ala	missense variant	-	NC_000002.12:g.9919090C>G	NCI-TCGA
rs1459994677	p.AlaTyrLys443AlaTerUnk	stop gained	-	NC_000002.12:g.9919101_9919102del	gnomAD
rs1377604037	p.Tyr444Cys	missense variant	-	NC_000002.12:g.9919100A>G	gnomAD
rs759089203	p.Tyr444His	missense variant	-	NC_000002.12:g.9919099T>C	ExAC,gnomAD
COSM4083720	p.Lys445Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9919102A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg447GluPheSerTerUnk	frameshift	-	NC_000002.12:g.9919102A>-	NCI-TCGA
NCI-TCGA novel	p.Arg447Thr	missense variant	-	NC_000002.12:g.9919109G>C	NCI-TCGA
rs201240819	p.Met449Val	missense variant	-	NC_000002.12:g.9919600A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150986511	p.Val450Met	missense variant	-	NC_000002.12:g.9919603G>A	ESP,ExAC,TOPMed,gnomAD
rs150986511	p.Val450Leu	missense variant	-	NC_000002.12:g.9919603G>C	ESP,ExAC,TOPMed,gnomAD
rs1259847411	p.Val451Ala	missense variant	-	NC_000002.12:g.9919607T>C	gnomAD
rs144539941	p.Asn452Lys	missense variant	-	NC_000002.12:g.9919611T>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ser458ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.9919628_9919634GCACACT>-	NCI-TCGA
rs59159809	p.Ser458Asn	missense variant	-	NC_000002.12:g.9919628G>A	gnomAD
rs1372476095	p.Thr459Arg	missense variant	-	NC_000002.12:g.9919631C>G	TOPMed,gnomAD
rs773478047	p.Thr459Ala	missense variant	-	NC_000002.12:g.9919630A>G	ExAC,gnomAD
rs1314519738	p.Leu460Val	missense variant	-	NC_000002.12:g.9919633C>G	gnomAD
rs137900719	p.Glu462Gln	missense variant	-	NC_000002.12:g.9919639G>C	ESP,gnomAD
rs1820965	p.Glu462Asp	missense variant	-	NC_000002.12:g.9919641G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs137900719	p.Glu462Lys	missense variant	-	NC_000002.12:g.9919639G>A	ESP,gnomAD
rs146360523	p.Ser463Leu	missense variant	-	NC_000002.12:g.9919643C>T	ESP,ExAC,TOPMed,gnomAD
rs146360523	p.Ser463Ter	stop gained	-	NC_000002.12:g.9919643C>A	ESP,ExAC,TOPMed,gnomAD
rs541855354	p.Thr464Ala	missense variant	-	NC_000002.12:g.9919645A>G	TOPMed,gnomAD
rs1395980975	p.Thr466Ala	missense variant	-	NC_000002.12:g.9919651A>G	TOPMed
rs1169998980	p.Lys470Asn	missense variant	-	NC_000002.12:g.9919665A>C	TOPMed,gnomAD
rs757172994	p.Ser471Arg	missense variant	-	NC_000002.12:g.9919668C>G	ExAC,TOPMed,gnomAD
rs753813125	p.Ser471Asn	missense variant	-	NC_000002.12:g.9919667G>A	ExAC,gnomAD
rs561825550	p.Ser471LysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.9919658_9919659insA	NCI-TCGA
rs1056395975	p.Pro472Ala	missense variant	-	NC_000002.12:g.9919669C>G	TOPMed,gnomAD
rs1193486761	p.Ser473Leu	missense variant	-	NC_000002.12:g.9919673C>T	TOPMed
rs1484773279	p.Phe475Val	missense variant	-	NC_000002.12:g.9919678T>G	gnomAD
rs1210448991	p.Gln476Ter	stop gained	-	NC_000002.12:g.9919681C>T	gnomAD
rs377120295	p.Asn478Ser	missense variant	-	NC_000002.12:g.9919688A>G	ESP,ExAC,TOPMed,gnomAD
rs758143623	p.Asn478Lys	missense variant	-	NC_000002.12:g.9919689C>G	ExAC,gnomAD
rs1395035849	p.Trp479Ser	missense variant	-	NC_000002.12:g.9919691G>C	gnomAD
rs779637593	p.Trp479Cys	missense variant	-	NC_000002.12:g.9919692G>T	ExAC,TOPMed,gnomAD
rs746646623	p.Glu482Lys	missense variant	-	NC_000002.12:g.9919699G>A	ExAC,TOPMed,gnomAD
rs1403363609	p.Asp483Glu	missense variant	-	NC_000002.12:g.9919704C>G	gnomAD
rs1175211730	p.Asp483Gly	missense variant	-	NC_000002.12:g.9919703A>G	gnomAD
rs768327203	p.Thr484Ile	missense variant	-	NC_000002.12:g.9919706C>T	ExAC,TOPMed,gnomAD
rs776246422	p.Asp485Gly	missense variant	-	NC_000002.12:g.9919709A>G	ExAC,TOPMed,gnomAD
rs776246422	p.Asp485Val	missense variant	-	NC_000002.12:g.9919709A>T	ExAC,TOPMed,gnomAD
rs16867245	p.Thr487Met	missense variant	-	NC_000002.12:g.9919715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs898290034	p.His490Arg	missense variant	-	NC_000002.12:g.9919724A>G	TOPMed,gnomAD
rs200886342	p.Gly491Arg	missense variant	-	NC_000002.12:g.9919726G>A	gnomAD
rs1346150414	p.His492Pro	missense variant	-	NC_000002.12:g.9919730A>C	gnomAD
rs201051317	p.Leu494His	missense variant	-	NC_000002.12:g.9919736T>A	1000Genomes,ExAC,gnomAD
rs539432217	p.Gln495Pro	missense variant	-	NC_000002.12:g.9919739A>C	gnomAD
rs539432217	p.Gln495Arg	missense variant	-	NC_000002.12:g.9919739A>G	gnomAD
rs1321947878	p.Gln495Ter	stop gained	-	NC_000002.12:g.9919738C>T	-
rs767688435	p.Gly496Ala	missense variant	-	NC_000002.12:g.9919742G>C	ExAC,gnomAD
rs139672043	p.Lys501Arg	missense variant	-	NC_000002.12:g.9919757A>G	ESP,ExAC,TOPMed,gnomAD
rs147156611	p.Gly502Val	missense variant	-	NC_000002.12:g.9919760G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200399688	p.Gln503Arg	missense variant	-	NC_000002.12:g.9919763A>G	ESP,ExAC,TOPMed,gnomAD
COSM4083721	p.Ser504Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9919765T>G	NCI-TCGA Cosmic
rs1291897262	p.Ser504Leu	missense variant	-	NC_000002.12:g.9919766C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu506Met	missense variant	-	NC_000002.12:g.9919771C>A	NCI-TCGA
rs779972180	p.Thr507Ile	missense variant	-	NC_000002.12:g.9919775C>T	ExAC,TOPMed,gnomAD
rs779972180	p.Thr507Asn	missense variant	-	NC_000002.12:g.9919775C>A	ExAC,TOPMed,gnomAD
rs1207518912	p.Thr507Ala	missense variant	-	NC_000002.12:g.9919774A>G	gnomAD
COSM1004436	p.Lys508Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9919779G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys508LeuPheLeu	insertion	-	NC_000002.12:g.9919778_9919779insATTGTTTCT	NCI-TCGA
COSM1004437	p.Asn509Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9919782T>G	NCI-TCGA Cosmic
rs1428729352	p.Asn509Ser	missense variant	-	NC_000002.12:g.9919781A>G	gnomAD
rs754704790	p.Trp513Arg	missense variant	-	NC_000002.12:g.9919792T>C	ExAC,gnomAD
rs780939522	p.Leu514Phe	missense variant	-	NC_000002.12:g.9919795C>T	ExAC,gnomAD
rs1462611310	p.Thr516Ala	missense variant	-	NC_000002.12:g.9919801A>G	gnomAD
rs1397477949	p.Thr516Ile	missense variant	-	NC_000002.12:g.9919802C>T	TOPMed
COSM1410313	p.Gln517His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9919806G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe519Val	missense variant	-	NC_000002.12:g.9919810T>G	NCI-TCGA
rs1427931673	p.Phe519Tyr	missense variant	-	NC_000002.12:g.9919811T>A	TOPMed
rs1259746730	p.Phe519Leu	missense variant	-	NC_000002.12:g.9919812C>A	TOPMed
rs769345621	p.Arg521Ser	missense variant	-	NC_000002.12:g.9919818A>C	ExAC,TOPMed,gnomAD
rs1275096570	p.Tyr523His	missense variant	-	NC_000002.12:g.9933784T>C	gnomAD
rs1293012301	p.Tyr523Ter	stop gained	-	NC_000002.12:g.9933786T>A	gnomAD
rs751419782	p.Thr525Ile	missense variant	-	NC_000002.12:g.9933791C>T	ExAC,gnomAD
rs781060198	p.Tyr530Cys	missense variant	-	NC_000002.12:g.9933806A>G	ExAC,TOPMed,gnomAD
rs1227752132	p.Glu531Gln	missense variant	-	NC_000002.12:g.9933808G>C	TOPMed
rs952643617	p.Glu532Ter	stop gained	-	NC_000002.12:g.9933811G>T	TOPMed
rs1312461269	p.Ser533Thr	missense variant	-	NC_000002.12:g.9933814T>A	TOPMed
rs1185074326	p.Ser533Leu	missense variant	-	NC_000002.12:g.9933815C>T	TOPMed,gnomAD
rs1185074326	p.Ser533Ter	stop gained	-	NC_000002.12:g.9933815C>A	TOPMed,gnomAD
COSM76668	p.Asn534Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9933819T>A	NCI-TCGA Cosmic
rs200293978	p.Asn534Ser	missense variant	-	NC_000002.12:g.9933818A>G	1000Genomes
rs376850207	p.Ser536Pro	missense variant	-	NC_000002.12:g.9933823T>C	ESP,TOPMed
rs752383917	p.Leu537Pro	missense variant	-	NC_000002.12:g.9933827T>C	ExAC
rs371005058	p.Tyr539Cys	missense variant	-	NC_000002.12:g.9933833A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Tyr539TrpPheSerTerUnk	frameshift	-	NC_000002.12:g.9933832_9933833insGG	NCI-TCGA
rs748706662	p.Gln540Arg	missense variant	-	NC_000002.12:g.9933836A>G	ExAC,gnomAD
rs570159917	p.Gln540Glu	missense variant	-	NC_000002.12:g.9933835C>G	1000Genomes,ExAC,gnomAD
rs539076734	p.Ile542Met	missense variant	-	NC_000002.12:g.9933843A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu545Val	missense variant	-	NC_000002.12:g.9933850C>G	NCI-TCGA
rs1384070914	p.Leu545Arg	missense variant	-	NC_000002.12:g.9933851T>G	gnomAD
rs1409717949	p.Phe546Ser	missense variant	-	NC_000002.12:g.9933854T>C	TOPMed
rs1368825817	p.Arg551Gly	missense variant	-	NC_000002.12:g.9933868A>G	TOPMed
rs1228327390	p.Ser555Ala	missense variant	-	NC_000002.12:g.9933880T>G	gnomAD
rs775631879	p.Ser555Cys	missense variant	-	NC_000002.12:g.9933881C>G	ExAC,gnomAD
rs775631879	p.Ser555Phe	missense variant	-	NC_000002.12:g.9933881C>T	ExAC,gnomAD
rs111442552	p.Leu556Ile	missense variant	-	NC_000002.12:g.9933883C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1462697977	p.Leu556Pro	missense variant	-	NC_000002.12:g.9933884T>C	TOPMed
rs930184187	p.His558Arg	missense variant	-	NC_000002.12:g.9933890A>G	gnomAD
rs761746332	p.Glu560Ala	missense variant	-	NC_000002.12:g.9933896A>C	ExAC,gnomAD
rs964091274	p.Glu560Lys	missense variant	-	NC_000002.12:g.9933895G>A	TOPMed,gnomAD
rs369799473	p.Val564Ala	missense variant	-	NC_000002.12:g.9933908T>C	TOPMed,gnomAD
COSM1004444	p.Lys566Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9933915G>T	NCI-TCGA Cosmic
rs774360958	p.Leu568Ile	missense variant	-	NC_000002.12:g.9933919C>A	ExAC,TOPMed
rs1227367396	p.Phe569Ser	missense variant	-	NC_000002.12:g.9933923T>C	gnomAD
rs759464643	p.Glu570Lys	missense variant	-	NC_000002.12:g.9933925G>A	ExAC,TOPMed,gnomAD
COSM4083726	p.Lys572Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9933932A>C	NCI-TCGA Cosmic
rs767401014	p.Ser574Arg	missense variant	-	NC_000002.12:g.9933937A>C	ExAC,gnomAD
rs1396082539	p.Ser574Asn	missense variant	-	NC_000002.12:g.9933938G>A	gnomAD
rs199505010	p.Lys576Glu	missense variant	-	NC_000002.12:g.9933943A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs763606013	p.Lys579Gln	missense variant	-	NC_000002.12:g.9933952A>C	ExAC,TOPMed,gnomAD
rs534584111	p.Val585Glu	missense variant	-	NC_000002.12:g.9933971T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs977539155	p.Arg587Gln	missense variant	-	NC_000002.12:g.9933977G>A	TOPMed,gnomAD
rs369291963	p.Arg587Ter	stop gained	-	NC_000002.12:g.9933976C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1429957676	p.His588Leu	missense variant	-	NC_000002.12:g.9933980A>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	LHGDN
C0596263	Carcinogenesis	phenotype	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IBA
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IDA
GO:0005515	protein binding	IPI
GO:0017025	TBP-class protein binding	TAS
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001188	RNA polymerase I preinitiation complex assembly	IDA
GO:0006351	transcription, DNA-templated	NAS
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS
GO:0006363	termination of RNA polymerase I transcription	TAS
GO:0042790	nucleolar large rRNA transcription by RNA polymerase I	IBA
GO:0045815	positive regulation of gene expression, epigenetic	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	NAS
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005668	RNA polymerase transcription factor SL1 complex	IBA
GO:0005730	nucleolus	IDA
GO:0070860	RNA polymerase I core factor complex	IBA
GO:0070860	RNA polymerase I core factor complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212165	Epigenetic regulation of gene expression	IEA
R-HSA-212165	Epigenetic regulation of gene expression	TAS
R-HSA-427359	SIRT1 negatively regulates rRNA expression	IEA
R-HSA-427413	NoRC negatively regulates rRNA expression	IEA
R-HSA-5250913	Positive epigenetic regulation of rRNA expression	TAS
R-HSA-5250924	B-WICH complex positively regulates rRNA expression	TAS
R-HSA-5250941	Negative epigenetic regulation of rRNA expression	IEA
R-HSA-73762	RNA Polymerase I Transcription Initiation	TAS
R-HSA-73762	RNA Polymerase I Transcription Initiation	IEA
R-HSA-73772	RNA Polymerase I Promoter Escape	TAS
R-HSA-73854	RNA Polymerase I Promoter Clearance	TAS
R-HSA-73854	RNA Polymerase I Promoter Clearance	IEA
R-HSA-73863	RNA Polymerase I Transcription Termination	TAS
R-HSA-73864	RNA Polymerase I Transcription	TAS
R-HSA-73864	RNA Polymerase I Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-74160	Gene expression (Transcription)	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C001073	2,4-dinitrobenzenesulfonic acid	[2,4-dinitrobenzenesulfonic acid co-treated with GR 159897] results in increased expression of TAF1B mRNA	30116771
C001073	2,4-dinitrobenzenesulfonic acid	2,4-dinitrobenzenesulfonic acid results in decreased expression of TAF1B mRNA	30116771
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of TAF1B mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with 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 TAF1B 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 TAF1B mRNA	27188386
D001280	Atrazine	Atrazine results in increased expression of TAF1B mRNA	25929836
D001280	Atrazine	Atrazine results in decreased expression of TAF1B mRNA	22378314
C044887	beta-methylcholine	beta-methylcholine affects the expression of TAF1B mRNA	21179406
C006780	bisphenol A	bisphenol A affects the expression of TAF1B mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of TAF1B mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of TAF1B mRNA	25181051
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of TAF1B mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of TAF1B mRNA]	31150632
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of TAF1B mRNA	19320972
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of TAF1B mRNA	19549813
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of TAF1B mRNA	17361019
C000944	dicrotophos	dicrotophos results in decreased expression of TAF1B mRNA	28302478
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 TAF1B 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 TAF1B mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TAF1B mRNA	22079256
C092990	GR 159897	[2,4-dinitrobenzenesulfonic acid co-treated with GR 159897] results in increased expression of TAF1B mRNA	30116771
C000593030	GSK-J4	GSK-J4 results in decreased expression of TAF1B mRNA	29301935
D007213	Indomethacin	Indomethacin results in increased expression of TAF1B mRNA	28201806
D019344	Lactic Acid	Lactic Acid results in decreased expression of TAF1B mRNA	30851411
D007854	Lead	Lead results in decreased expression of TAF1B mRNA	19921347
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of TAF1B mRNA	26011545
C029938	nickel sulfate	nickel sulfate results in decreased expression of TAF1B mRNA	16780908
D009534	Niclosamide	Niclosamide results in increased expression of TAF1B mRNA	31398420
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 TAF1B mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of TAF1B mRNA	26272509
D010936	Plant Extracts	Plant Extracts results in increased expression of TAF1B mRNA	23557933
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TAF1B mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of TAF1B mRNA	22079256
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of TAF1B mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of TAF1B mRNA	25895662
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TAF1B mRNA	24680724
D014241	Trichloroethylene	Trichloroethylene results in increased expression of TAF1B protein	22771849
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 TAF1B mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of TAF1B mRNA	23179753; 26272509; 27188386;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0903	Direct protein sequencing
KW-0238	DNA-binding
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR033599	TAF1B/Rrn7
IPR021752	TF_Rrn7_Zf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF11781	zf-RRN7

Gene: TAF1B

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