CleftGeneDB-Search

Gene: BAG4

Basic information

Tag	Content
Uniprot ID	O95429; B4E217; O95818;
Entrez ID	9530
Genbank protein ID	AAH38505.2; AAD16123.2; AAD05226.1; BAG64979.1;
Genbank nucleotide ID	NM_001204878.1; NM_004874.3;
Ensembl protein ID	ENSP00000287322; ENSP00000393298;
Ensembl nucleotide ID	ENSG00000156735
Gene name	BAG family molecular chaperone regulator 4
Gene symbol	BAG4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	17366557
Functional description	Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release (By similarity). Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria.
Sequence	MSALRRSGYG PSDGPSYGRY YGPGGGDVPV HPPPPLYPLR PEPPQPPISW RVRGGGPAET 60 TWLGEGGGGD GYYPSGGAWP EPGRAGGSHQ EQPPYPSYNS NYWNSTARSR APYPSTYPVR 120 PELQGQSLNS YTNGAYGPTY PPGPGANTAS YSGAYYAPGY TQTSYSTEVP STYRSSGNSP 180 TPVSRWIYPQ QDCQTEAPPL RGQVPGYPPS QNPGMTLPHY PYGDGNRSVP QSGPTVRPQE 240 DAWASPGAYG MGGRYPWPSS APSAPPGNLY MTESTSPWPS SGSPQSPPSP PVQQPKDSSY 300 PYSQSDQSMN RHNFPCSVHQ YESSGTVNND DSDLLDSQVQ YSAEPQLYGN ATSDHPNNQD 360 QSSSLPEECV PSDESTPPSI KKIIHVLEKV QYLEQEVEEF VGKKTDKAYW LLEEMLTKEL 420 LELDSVETGG QDSVRQARKE AVCKIQAILE KLEKKGL 457

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1M62
1M7K

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	BAG4	516353	F1MSS9	Bos taurus	Prediction	More>>
1:1 ortholog	BAG4	607954	E2R7V4	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BAG4	102179734	A0A452FDQ9	Capra hircus	Prediction	More>>
1:1 ortholog	BAG4	100057730	F6RTR6	Equus caballus	Prediction	More>>
1:1 ortholog	BAG4	9530	O95429	Homo sapiens	Publication	More>>
1:1 ortholog	Bag4	67384	Q8CI61	Mus musculus	Prediction	More>>
1:1 ortholog	BAG4		H2QW14	Pan troglodytes	Prediction	More>>
1:1 ortholog	BAG4		A0A287AP23	Sus scrofa	Prediction	More>>
1:1 ortholog	BAG4	100353212	G1T9D0	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Bag4		F1M3K6	Rattus norvegicus	Prediction	More>>
1:1 ortholog	bag4	100001980	B8JJ17	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
BAG4	rs7836805	Genotyping	17366557

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1313932304	p.Ser2Pro	missense variant	-	NC_000008.11:g.38176873T>C	TOPMed
rs988696950	p.Ser2Trp	missense variant	-	NC_000008.11:g.38176874C>G	TOPMed
NCI-TCGA novel	p.Ser2Leu	missense variant	-	NC_000008.11:g.38176874C>T	NCI-TCGA
rs1350773113	p.Leu4Val	missense variant	-	NC_000008.11:g.38176879C>G	TOPMed
rs914090821	p.Leu4Arg	missense variant	-	NC_000008.11:g.38176880T>G	TOPMed,gnomAD
rs760711712	p.Arg6Leu	missense variant	-	NC_000008.11:g.38176886G>T	ExAC,TOPMed,gnomAD
rs1187114537	p.Arg6Cys	missense variant	-	NC_000008.11:g.38176885C>T	gnomAD
rs760711712	p.Arg6His	missense variant	-	NC_000008.11:g.38176886G>A	ExAC,TOPMed,gnomAD
rs1476040627	p.Ser7Thr	missense variant	-	NC_000008.11:g.38176888T>A	gnomAD
rs763796427	p.Ser7Trp	missense variant	-	NC_000008.11:g.38176889C>G	ExAC,gnomAD
rs763796427	p.Ser7Leu	missense variant	-	NC_000008.11:g.38176889C>T	ExAC,gnomAD
rs1331151184	p.Gly8Ser	missense variant	-	NC_000008.11:g.38176891G>A	TOPMed
rs931803291	p.Tyr9Cys	missense variant	-	NC_000008.11:g.38176895A>G	gnomAD
rs1372469618	p.Pro11Leu	missense variant	-	NC_000008.11:g.38176901C>T	gnomAD
rs1410566693	p.Ser12Arg	missense variant	-	NC_000008.11:g.38176905T>A	gnomAD
rs1293172711	p.Asp13Asn	missense variant	-	NC_000008.11:g.38176906G>A	gnomAD
rs1247367980	p.Gly14Cys	missense variant	-	NC_000008.11:g.38176909G>T	TOPMed,gnomAD
rs1247367980	p.Gly14Arg	missense variant	-	NC_000008.11:g.38176909G>C	TOPMed,gnomAD
rs573786065	p.Pro15Gln	missense variant	-	NC_000008.11:g.38176913C>A	1000Genomes,ExAC,gnomAD
rs573786065	p.Pro15Leu	missense variant	-	NC_000008.11:g.38176913C>T	1000Genomes,ExAC,gnomAD
rs1276399741	p.Tyr17Cys	missense variant	-	NC_000008.11:g.38176919A>G	TOPMed,gnomAD
rs1276399741	p.Tyr17Phe	missense variant	-	NC_000008.11:g.38176919A>T	TOPMed,gnomAD
rs757869191	p.Tyr17His	missense variant	-	NC_000008.11:g.38176918T>C	ExAC,TOPMed,gnomAD
rs1209566530	p.Gly18Cys	missense variant	-	NC_000008.11:g.38176921G>T	gnomAD
NCI-TCGA novel	p.Gly18Asp	missense variant	-	NC_000008.11:g.38176922G>A	NCI-TCGA
rs910680328	p.Arg19His	missense variant	-	NC_000008.11:g.38176925G>A	TOPMed,gnomAD
rs1237777485	p.Arg19Cys	missense variant	-	NC_000008.11:g.38176924C>T	TOPMed
rs1425495889	p.Tyr20Cys	missense variant	-	NC_000008.11:g.38176928A>G	gnomAD
rs1338238230	p.Gly22Val	missense variant	-	NC_000008.11:g.38176934G>T	TOPMed
rs369467061	p.Gly24Ala	missense variant	-	NC_000008.11:g.38176940G>C	ExAC,TOPMed,gnomAD
rs781640921	p.Gly25Val	missense variant	-	NC_000008.11:g.38176943G>T	ExAC,TOPMed,gnomAD
rs781640921	p.Gly25Asp	missense variant	-	NC_000008.11:g.38176943G>A	ExAC,TOPMed,gnomAD
rs61731142	p.Gly25Ser	missense variant	-	NC_000008.11:g.38176942G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748527070	p.Gly26Arg	missense variant	-	NC_000008.11:g.38176945G>A	ExAC,gnomAD
rs899059377	p.Asp27His	missense variant	-	NC_000008.11:g.38176948G>C	TOPMed
rs1430434762	p.Val28Ala	missense variant	-	NC_000008.11:g.38176952T>C	gnomAD
rs770097684	p.Pro29Leu	missense variant	-	NC_000008.11:g.38176955C>T	ExAC,gnomAD
rs1315299224	p.His31Pro	missense variant	-	NC_000008.11:g.38176961A>C	TOPMed
rs1398305681	p.Pro32Ala	missense variant	-	NC_000008.11:g.38176963C>G	TOPMed,gnomAD
rs1398305681	p.Pro32Ser	missense variant	-	NC_000008.11:g.38176963C>T	TOPMed,gnomAD
rs749569625	p.Pro33His	missense variant	-	NC_000008.11:g.38176967C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro33Leu	missense variant	-	NC_000008.11:g.38176967C>T	NCI-TCGA
rs1225752806	p.Pro34Thr	missense variant	-	NC_000008.11:g.38176969C>A	gnomAD
rs774560193	p.Pro35Arg	missense variant	-	NC_000008.11:g.38176973C>G	ExAC,gnomAD
rs770881318	p.Pro35Ser	missense variant	-	NC_000008.11:g.38176972C>T	ExAC,TOPMed,gnomAD
rs1277574511	p.Tyr37Cys	missense variant	-	NC_000008.11:g.38176979A>G	gnomAD
rs760520384	p.Tyr37His	missense variant	-	NC_000008.11:g.38176978T>C	ExAC,gnomAD
rs1483984798	p.Pro38Ala	missense variant	-	NC_000008.11:g.38176981C>G	gnomAD
rs1200949113	p.Leu39Phe	missense variant	-	NC_000008.11:g.38176984C>T	TOPMed,gnomAD
rs1300173973	p.Arg40Leu	missense variant	-	NC_000008.11:g.38176988G>T	TOPMed
rs555873998	p.Pro41Arg	missense variant	-	NC_000008.11:g.38176991C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs555873998	p.Pro41Leu	missense variant	-	NC_000008.11:g.38176991C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs895662963	p.Glu42Val	missense variant	-	NC_000008.11:g.38176994A>T	TOPMed
rs1450331940	p.Pro43Leu	missense variant	-	NC_000008.11:g.38176997C>T	gnomAD
rs1250072039	p.Pro43Ser	missense variant	-	NC_000008.11:g.38176996C>T	gnomAD
rs1173322707	p.Pro46Ser	missense variant	-	NC_000008.11:g.38177005C>T	TOPMed,gnomAD
rs1375988479	p.Pro47Ser	missense variant	-	NC_000008.11:g.38177008C>T	gnomAD
rs1181032965	p.Ile48Val	missense variant	-	NC_000008.11:g.38177011A>G	TOPMed
rs761628692	p.Ser49Phe	missense variant	-	NC_000008.11:g.38177015C>T	ExAC,gnomAD
rs1478133053	p.Trp50Arg	missense variant	-	NC_000008.11:g.38177017T>A	TOPMed
rs868231605	p.Arg51Trp	missense variant	-	NC_000008.11:g.38177020C>T	TOPMed,gnomAD
rs577611064	p.Val52Leu	missense variant	-	NC_000008.11:g.38177023G>C	1000Genomes,ExAC,gnomAD
rs750055261	p.Arg53Pro	missense variant	-	NC_000008.11:g.38177027G>C	ExAC,TOPMed,gnomAD
rs750055261	p.Arg53His	missense variant	-	NC_000008.11:g.38177027G>A	ExAC,TOPMed,gnomAD
rs750055261	p.Arg53Leu	missense variant	-	NC_000008.11:g.38177027G>T	ExAC,TOPMed,gnomAD
rs1439697660	p.Gly55Ser	missense variant	-	NC_000008.11:g.38177032G>A	TOPMed,gnomAD
rs751093887	p.Gly56Asp	missense variant	-	NC_000008.11:g.38177036G>A	ExAC,gnomAD
rs765793594	p.Gly56Ser	missense variant	-	NC_000008.11:g.38177035G>A	ExAC,gnomAD
rs1311079690	p.Pro57Arg	missense variant	-	NC_000008.11:g.38177039C>G	TOPMed
rs781772073	p.Pro57Ser	missense variant	-	NC_000008.11:g.38177038C>T	ExAC,gnomAD
rs756522380	p.Thr61Ile	missense variant	-	NC_000008.11:g.38177051C>T	ExAC,gnomAD
rs1022665390	p.Trp62Cys	missense variant	-	NC_000008.11:g.38177055G>T	TOPMed,gnomAD
rs778318816	p.Trp62Ter	stop gained	-	NC_000008.11:g.38177054G>A	ExAC,gnomAD
rs1280647675	p.Gly64Ala	missense variant	-	NC_000008.11:g.38177060G>C	TOPMed
rs1199699003	p.Gly64Arg	missense variant	-	NC_000008.11:g.38177059G>A	gnomAD
NCI-TCGA novel	p.Gly66Ser	missense variant	-	NC_000008.11:g.38177065G>A	NCI-TCGA
rs1363665687	p.Gly69Ser	missense variant	-	NC_000008.11:g.38177074G>A	gnomAD
rs1162076581	p.Asp70Glu	missense variant	-	NC_000008.11:g.38177079T>G	gnomAD
rs771247507	p.Asp70Tyr	missense variant	-	NC_000008.11:g.38177077G>T	ExAC,gnomAD
rs771247507	p.Asp70Asn	missense variant	-	NC_000008.11:g.38177077G>A	ExAC,gnomAD
rs1389824352	p.Gly71Asp	missense variant	-	NC_000008.11:g.38177081G>A	gnomAD
rs1461293286	p.Tyr72His	missense variant	-	NC_000008.11:g.38177083T>C	gnomAD
rs1291399487	p.Tyr72Cys	missense variant	-	NC_000008.11:g.38177084A>G	TOPMed,gnomAD
rs528643030	p.Tyr73Cys	missense variant	-	NC_000008.11:g.38177087A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs768542077	p.Pro74Leu	missense variant	-	NC_000008.11:g.38177090C>T	ExAC,gnomAD
rs1000254934	p.Ser75Leu	missense variant	-	NC_000008.11:g.38177093C>T	TOPMed
rs1020991875	p.Gly76Glu	missense variant	-	NC_000008.11:g.38177096G>A	-
rs1230140085	p.Ala78Gly	missense variant	-	NC_000008.11:g.38177102C>G	TOPMed,gnomAD
rs1230140085	p.Ala78Asp	missense variant	-	NC_000008.11:g.38177102C>A	TOPMed,gnomAD
rs748133543	p.Ala78Thr	missense variant	-	NC_000008.11:g.38177101G>A	ExAC,TOPMed,gnomAD
rs769547218	p.Gly83Arg	missense variant	-	NC_000008.11:g.38177116G>C	ExAC,gnomAD
rs773116442	p.Arg84Gln	missense variant	-	NC_000008.11:g.38177120G>A	ExAC,TOPMed,gnomAD
rs773116442	p.Arg84Pro	missense variant	-	NC_000008.11:g.38177120G>C	ExAC,TOPMed,gnomAD
rs1191434325	p.Arg84Gly	missense variant	-	NC_000008.11:g.38177119C>G	TOPMed
rs1211627199	p.Ala85Pro	missense variant	-	NC_000008.11:g.38177122G>C	TOPMed,gnomAD
COSM1099552	p.Ala85Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38177123C>T	NCI-TCGA Cosmic
rs923150151	p.Gly87Arg	missense variant	-	NC_000008.11:g.38177128G>A	gnomAD
rs1272569239	p.Gly87Val	missense variant	-	NC_000008.11:g.38177129G>T	gnomAD
rs762455304	p.His89Gln	missense variant	-	NC_000008.11:g.38177136C>G	ExAC
rs1192398635	p.Gln90Ter	stop gained	-	NC_000008.11:g.38177137C>T	TOPMed
rs1416398243	p.Pro94Leu	missense variant	-	NC_000008.11:g.38192698C>T	gnomAD
rs770439984	p.Tyr95His	missense variant	-	NC_000008.11:g.38192700T>C	ExAC,TOPMed,gnomAD
rs537121062	p.Tyr98Cys	missense variant	-	NC_000008.11:g.38192710A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr98Phe	missense variant	-	NC_000008.11:g.38192710A>T	NCI-TCGA
rs1374699701	p.Asn99Ile	missense variant	-	NC_000008.11:g.38192713A>T	gnomAD
rs767127120	p.Asn99Asp	missense variant	-	NC_000008.11:g.38192712A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn99Thr	missense variant	-	NC_000008.11:g.38192713A>C	NCI-TCGA
NCI-TCGA novel	p.Tyr102Cys	missense variant	-	NC_000008.11:g.38192722A>G	NCI-TCGA
rs143482634	p.Trp103Ter	stop gained	-	NC_000008.11:g.38192725G>A	ESP,ExAC,TOPMed,gnomAD
rs754115309	p.Asn104Asp	missense variant	-	NC_000008.11:g.38192727A>G	ExAC,gnomAD
rs1347629668	p.Ser105Phe	missense variant	-	NC_000008.11:g.38192731C>T	TOPMed
rs147141531	p.Ala107Val	missense variant	-	NC_000008.11:g.38192737C>T	ESP,ExAC,TOPMed,gnomAD
rs1230628154	p.Arg108Ile	missense variant	-	NC_000008.11:g.38192740G>T	gnomAD
rs1230628154	p.Arg108Lys	missense variant	-	NC_000008.11:g.38192740G>A	gnomAD
rs1275440435	p.Ser109Tyr	missense variant	-	NC_000008.11:g.38192743C>A	gnomAD
rs1275440435	p.Ser109Phe	missense variant	-	NC_000008.11:g.38192743C>T	gnomAD
rs1347320818	p.Arg110Gly	missense variant	-	NC_000008.11:g.38192745A>G	TOPMed,gnomAD
rs765570780	p.Pro112Leu	missense variant	-	NC_000008.11:g.38192752C>T	ExAC,gnomAD
rs750629838	p.Pro114Arg	missense variant	-	NC_000008.11:g.38192758C>G	ExAC,gnomAD
rs1186323998	p.Ser115Gly	missense variant	-	NC_000008.11:g.38192760A>G	gnomAD
rs1450943909	p.Thr116Ala	missense variant	-	NC_000008.11:g.38192763A>G	TOPMed,gnomAD
rs560372313	p.Tyr117Ter	stop gained	-	NC_000008.11:g.38192768T>G	1000Genomes,ExAC
rs867892951	p.Pro118Ser	missense variant	-	NC_000008.11:g.38192769C>T	-
rs747094717	p.Val119Leu	missense variant	-	NC_000008.11:g.38192772G>T	ExAC,gnomAD
rs749229656	p.Leu123Ser	missense variant	-	NC_000008.11:g.38192785T>C	ExAC,TOPMed,gnomAD
rs770724435	p.Gly125Ser	missense variant	-	NC_000008.11:g.38192790G>A	ExAC,gnomAD
rs1171697650	p.Gln126Ter	stop gained	-	NC_000008.11:g.38192793C>T	TOPMed
NCI-TCGA novel	p.Gln126His	missense variant	-	NC_000008.11:g.38192795G>T	NCI-TCGA
NCI-TCGA novel	p.Ser127Thr	missense variant	-	NC_000008.11:g.38207513G>C	NCI-TCGA
rs377544370	p.Ser130Pro	missense variant	-	NC_000008.11:g.38207521T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ser130Phe	missense variant	-	NC_000008.11:g.38207522C>T	NCI-TCGA
rs899926277	p.Tyr131His	missense variant	-	NC_000008.11:g.38207524T>C	TOPMed,gnomAD
rs371334530	p.Thr132Ile	missense variant	-	NC_000008.11:g.38207528C>T	ESP,ExAC,TOPMed,gnomAD
rs371334530	p.Thr132Lys	missense variant	-	NC_000008.11:g.38207528C>A	ESP,ExAC,TOPMed,gnomAD
rs1331626793	p.Thr132Ala	missense variant	-	NC_000008.11:g.38207527A>G	gnomAD
rs1241307042	p.Gly134Arg	missense variant	-	NC_000008.11:g.38207533G>A	TOPMed
rs757197258	p.Ala135Val	missense variant	-	NC_000008.11:g.38207537C>T	ExAC,TOPMed,gnomAD
rs745666389	p.Gly137Ser	missense variant	-	NC_000008.11:g.38207542G>A	ExAC,gnomAD
COSM3648810	p.Pro138Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38207546C>T	NCI-TCGA Cosmic
rs566952392	p.Pro138Ser	missense variant	-	NC_000008.11:g.38207545C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs192353336	p.Thr139Ala	missense variant	-	NC_000008.11:g.38207548A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs746709814	p.Thr139Lys	missense variant	-	NC_000008.11:g.38207549C>A	ExAC,gnomAD
rs1390209945	p.Pro141Arg	missense variant	-	NC_000008.11:g.38207555C>G	gnomAD
rs1163968701	p.Pro141Thr	missense variant	-	NC_000008.11:g.38207554C>A	TOPMed,gnomAD
rs1163968701	p.Pro141Ser	missense variant	-	NC_000008.11:g.38207554C>T	TOPMed,gnomAD
rs377654190	p.Pro142Ala	missense variant	-	NC_000008.11:g.38207557C>G	ESP,ExAC,gnomAD
rs377654190	p.Pro142Ser	missense variant	-	NC_000008.11:g.38207557C>T	ESP,ExAC,gnomAD
rs762370493	p.Pro142Arg	missense variant	-	NC_000008.11:g.38207558C>G	ExAC,gnomAD
rs770204996	p.Gly143Arg	missense variant	-	NC_000008.11:g.38207560G>C	ExAC,gnomAD
rs1385250108	p.Ala146Thr	missense variant	-	NC_000008.11:g.38207569G>A	TOPMed
rs766778888	p.Ser150Leu	missense variant	-	NC_000008.11:g.38207582C>T	ExAC,gnomAD
rs763330256	p.Ser150Pro	missense variant	-	NC_000008.11:g.38207581T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser152Ter	stop gained	-	NC_000008.11:g.38207588C>G	NCI-TCGA
rs762772921	p.Gly153Glu	missense variant	-	NC_000008.11:g.38207591G>A	gnomAD
rs1354767915	p.Gly153Arg	missense variant	-	NC_000008.11:g.38207590G>A	gnomAD
rs751745986	p.Ala154Thr	missense variant	-	NC_000008.11:g.38207593G>A	ExAC,TOPMed,gnomAD
rs1468131128	p.Ala154Val	missense variant	-	NC_000008.11:g.38207594C>T	TOPMed
rs570023756	p.Tyr155Ser	missense variant	-	NC_000008.11:g.38207597A>C	ExAC,TOPMed,gnomAD
rs570023756	p.Tyr155Cys	missense variant	-	NC_000008.11:g.38207597A>G	ExAC,TOPMed,gnomAD
rs537081631	p.Tyr156Asn	missense variant	-	NC_000008.11:g.38207599T>A	ExAC,TOPMed,gnomAD
rs750198951	p.Tyr156Cys	missense variant	-	NC_000008.11:g.38207600A>G	ExAC,TOPMed,gnomAD
rs537081631	p.Tyr156Asp	missense variant	-	NC_000008.11:g.38207599T>G	ExAC,TOPMed,gnomAD
rs537081631	p.Tyr156His	missense variant	-	NC_000008.11:g.38207599T>C	ExAC,TOPMed,gnomAD
rs1186840496	p.Ala157Val	missense variant	-	NC_000008.11:g.38207603C>T	gnomAD
rs958634390	p.Pro158Ser	missense variant	-	NC_000008.11:g.38207605C>T	TOPMed
NCI-TCGA novel	p.Pro158Leu	missense variant	-	NC_000008.11:g.38207606C>T	NCI-TCGA
rs916826247	p.Gly159Asp	missense variant	-	NC_000008.11:g.38207609G>A	TOPMed
rs769250247	p.Thr161Ser	missense variant	-	NC_000008.11:g.38207614A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln162His	missense variant	-	NC_000008.11:g.38207619G>T	NCI-TCGA
rs1165186738	p.Ser164Gly	missense variant	-	NC_000008.11:g.38207623A>G	gnomAD
rs1233752099	p.Ser166Phe	missense variant	-	NC_000008.11:g.38207630C>T	TOPMed
rs780035464	p.Thr167Ile	missense variant	-	NC_000008.11:g.38207633C>T	ExAC,gnomAD
rs1429130448	p.Val169Ala	missense variant	-	NC_000008.11:g.38207639T>C	gnomAD
rs1357303591	p.Val169Phe	missense variant	-	NC_000008.11:g.38207638G>T	TOPMed
rs1306274077	p.Pro170Gln	missense variant	-	NC_000008.11:g.38207642C>A	gnomAD
rs746656663	p.Ser171Gly	missense variant	-	NC_000008.11:g.38207644A>G	ExAC,gnomAD
rs1354600047	p.Thr172Asn	missense variant	-	NC_000008.11:g.38207648C>A	gnomAD
rs780697101	p.Tyr173Ser	missense variant	-	NC_000008.11:g.38207651A>C	ExAC,gnomAD
rs140270832	p.Tyr173His	missense variant	-	NC_000008.11:g.38207650T>C	ESP,ExAC,TOPMed,gnomAD
rs780697101	p.Tyr173Cys	missense variant	-	NC_000008.11:g.38207651A>G	ExAC,gnomAD
rs770285002	p.Arg174His	missense variant	-	NC_000008.11:g.38207654G>A	ExAC,gnomAD
rs375790383	p.Arg174Cys	missense variant	-	NC_000008.11:g.38207653C>T	ExAC,TOPMed,gnomAD
rs749833811	p.Asn178Ser	missense variant	-	NC_000008.11:g.38207666A>G	ExAC,gnomAD
rs1043917371	p.Thr181Ile	missense variant	-	NC_000008.11:g.38207675C>T	TOPMed,gnomAD
rs367677262	p.Pro182Ser	missense variant	-	NC_000008.11:g.38207677C>T	ESP,ExAC,TOPMed,gnomAD
rs367677262	p.Pro182Thr	missense variant	-	NC_000008.11:g.38207677C>A	ESP,ExAC,TOPMed,gnomAD
rs1254039818	p.Ser184Phe	missense variant	-	NC_000008.11:g.38207684C>T	gnomAD
rs143334197	p.Ser184Pro	missense variant	-	NC_000008.11:g.38207683T>C	ESP,ExAC,gnomAD
rs143334197	p.Ser184Thr	missense variant	-	NC_000008.11:g.38207683T>A	ESP,ExAC,gnomAD
rs61754115	p.Arg185Pro	missense variant	-	NC_000008.11:g.38207687G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61754115	p.Arg185His	missense variant	-	NC_000008.11:g.38207687G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1383614818	p.Arg185Cys	missense variant	-	NC_000008.11:g.38207686C>T	TOPMed
rs372261481	p.Trp186Cys	missense variant	-	NC_000008.11:g.38207691G>T	ESP,TOPMed
rs775602909	p.Ile187Leu	missense variant	-	NC_000008.11:g.38207692A>C	ExAC,TOPMed,gnomAD
rs1446241717	p.Ile187Asn	missense variant	-	NC_000008.11:g.38207693T>A	gnomAD
rs760694848	p.Tyr188Cys	missense variant	-	NC_000008.11:g.38207696A>G	ExAC,TOPMed,gnomAD
rs764321796	p.Pro189Leu	missense variant	-	NC_000008.11:g.38207699C>T	ExAC,TOPMed,gnomAD
rs1449094376	p.Pro189Thr	missense variant	-	NC_000008.11:g.38207698C>A	gnomAD
rs764321796	p.Pro189Arg	missense variant	-	NC_000008.11:g.38207699C>G	ExAC,TOPMed,gnomAD
rs764321796	p.Pro189His	missense variant	-	NC_000008.11:g.38207699C>A	ExAC,TOPMed,gnomAD
rs750356325	p.Gln190Ter	stop gained	-	NC_000008.11:g.38207701C>T	ExAC,gnomAD
rs1040496476	p.Gln190Arg	missense variant	-	NC_000008.11:g.38207702A>G	TOPMed,gnomAD
rs1172463195	p.Gln190His	missense variant	-	NC_000008.11:g.38207703G>T	gnomAD
rs1040496476	p.Gln190Leu	missense variant	-	NC_000008.11:g.38207702A>T	TOPMed,gnomAD
rs139408020	p.Cys193Arg	missense variant	-	NC_000008.11:g.38207710T>C	ESP,ExAC,gnomAD
rs139408020	p.Cys193Gly	missense variant	-	NC_000008.11:g.38207710T>G	ESP,ExAC,gnomAD
rs751327189	p.Gln194Glu	missense variant	-	NC_000008.11:g.38207713C>G	ExAC,gnomAD
rs567675876	p.Glu196Lys	missense variant	-	NC_000008.11:g.38207719G>A	1000Genomes,ExAC,gnomAD
rs762316003	p.Ala197Thr	missense variant	-	NC_000008.11:g.38207722G>A	TOPMed
rs1432423465	p.Pro198Ser	missense variant	-	NC_000008.11:g.38207725C>T	gnomAD
rs150045830	p.Pro199Ala	missense variant	-	NC_000008.11:g.38207728C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1231933774	p.Pro199His	missense variant	-	NC_000008.11:g.38207729C>A	gnomAD
rs150045830	p.Pro199Ser	missense variant	-	NC_000008.11:g.38207728C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1231933774	p.Pro199Leu	missense variant	-	NC_000008.11:g.38207729C>T	gnomAD
rs1182516308	p.Leu200Phe	missense variant	-	NC_000008.11:g.38207731C>T	gnomAD
rs771438838	p.Arg201Ser	missense variant	-	NC_000008.11:g.38207736G>C	ExAC,gnomAD
rs556443925	p.Arg201Met	missense variant	-	NC_000008.11:g.38207735G>T	1000Genomes,ExAC,gnomAD
rs1463424425	p.Gly202Arg	missense variant	-	NC_000008.11:g.38207737G>A	gnomAD
rs746253494	p.Gln203Arg	missense variant	-	NC_000008.11:g.38207741A>G	ExAC,gnomAD
COSM422137	p.Pro205Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38207746C>T	NCI-TCGA Cosmic
rs1429145864	p.Tyr207Cys	missense variant	-	NC_000008.11:g.38207753A>G	gnomAD
rs200494674	p.Pro208Leu	missense variant	-	NC_000008.11:g.38207756C>T	ExAC,TOPMed,gnomAD
rs772290430	p.Pro208Ser	missense variant	-	NC_000008.11:g.38207755C>T	ExAC,gnomAD
rs764266335	p.Pro209Arg	missense variant	-	NC_000008.11:g.38207759C>G	ExAC,gnomAD
rs780535591	p.Asn212Tyr	missense variant	-	NC_000008.11:g.38209013A>T	ExAC,gnomAD
rs1405062637	p.Pro218His	missense variant	-	NC_000008.11:g.38209032C>A	gnomAD
rs564753927	p.Tyr220Cys	missense variant	-	NC_000008.11:g.38209038A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs776788288	p.Pro221Arg	missense variant	-	NC_000008.11:g.38209041C>G	ExAC,gnomAD
rs1350200091	p.Gly223Glu	missense variant	-	NC_000008.11:g.38209047G>A	gnomAD
rs1288739841	p.Asp224Val	missense variant	-	NC_000008.11:g.38209050A>T	gnomAD
rs1270524102	p.Gly225Ala	missense variant	-	NC_000008.11:g.38209053G>C	TOPMed
rs145302681	p.Gly225Ser	missense variant	-	NC_000008.11:g.38209052G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770041398	p.Arg227His	missense variant	-	NC_000008.11:g.38209059G>A	ExAC,gnomAD
rs770041398	p.Arg227Pro	missense variant	-	NC_000008.11:g.38209059G>C	ExAC,gnomAD
rs369685431	p.Ser228Cys	missense variant	-	NC_000008.11:g.38209061A>T	ESP,ExAC,TOPMed,gnomAD
rs1223355389	p.Gln231Pro	missense variant	-	NC_000008.11:g.38209071A>C	gnomAD
rs560623799	p.Gly233Ala	missense variant	-	NC_000008.11:g.38209077G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs560623799	p.Gly233Val	missense variant	-	NC_000008.11:g.38209077G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs527912310	p.Pro234Leu	missense variant	-	NC_000008.11:g.38209080C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Thr235IlePheSerTerUnkUnk	frameshift	-	NC_000008.11:g.38209080_38209081insCATATGCTATAAG	NCI-TCGA
rs756741809	p.Val236Ile	missense variant	-	NC_000008.11:g.38209085G>A	ExAC,TOPMed,gnomAD
rs774897872	p.Arg237Gln	missense variant	-	NC_000008.11:g.38209089G>A	gnomAD
rs778529050	p.Arg237Ter	stop gained	-	NC_000008.11:g.38209088C>T	ExAC,gnomAD
rs759002547	p.Pro238Leu	missense variant	-	NC_000008.11:g.38209092C>T	ExAC,gnomAD
rs750893793	p.Pro238Thr	missense variant	-	NC_000008.11:g.38209091C>A	ExAC,gnomAD
rs202100571	p.Ala242Val	missense variant	-	NC_000008.11:g.38209104C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1378130085	p.Trp243Ter	stop gained	-	NC_000008.11:g.38209107G>A	gnomAD
rs1394107982	p.Ala244Pro	missense variant	-	NC_000008.11:g.38209109G>C	gnomAD
rs143665459	p.Ala248Thr	missense variant	-	NC_000008.11:g.38209121G>A	ESP,ExAC,TOPMed,gnomAD
rs1274009953	p.Gly253Val	missense variant	-	NC_000008.11:g.38209137G>T	gnomAD
rs769758134	p.Gly253Ser	missense variant	-	NC_000008.11:g.38209136G>A	ExAC,TOPMed,gnomAD
COSM3899946	p.Gly253Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38209137G>A	NCI-TCGA Cosmic
rs759330494	p.Arg254His	missense variant	-	NC_000008.11:g.38209140G>A	ExAC,gnomAD
rs1157493354	p.Arg254Cys	missense variant	-	NC_000008.11:g.38209139C>T	gnomAD
rs772047151	p.Pro256Ala	missense variant	-	NC_000008.11:g.38209145C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro256Ser	missense variant	-	NC_000008.11:g.38209145C>T	NCI-TCGA
rs775104347	p.Trp257Arg	missense variant	-	NC_000008.11:g.38209148T>C	ExAC,gnomAD
rs201302425	p.Ser259Thr	missense variant	-	NC_000008.11:g.38209154T>A	1000Genomes
rs1180491940	p.Ser259Leu	missense variant	-	NC_000008.11:g.38209155C>T	gnomAD
COSM4753086	p.Ala261Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38209161C>T	NCI-TCGA Cosmic
rs761524422	p.Ser263Leu	missense variant	-	NC_000008.11:g.38209167C>T	ExAC,gnomAD
rs1431891148	p.Ala264Thr	missense variant	-	NC_000008.11:g.38209169G>A	gnomAD
rs376249751	p.Pro266Arg	missense variant	-	NC_000008.11:g.38209176C>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro266Thr	missense variant	-	NC_000008.11:g.38209175C>A	NCI-TCGA
rs561418536	p.Gly267Ser	missense variant	-	NC_000008.11:g.38209178G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766943424	p.Gly267Asp	missense variant	-	NC_000008.11:g.38209179G>A	ExAC,TOPMed,gnomAD
rs1470467785	p.Asn268Ser	missense variant	-	NC_000008.11:g.38209182A>G	gnomAD
rs752159666	p.Leu269Phe	missense variant	-	NC_000008.11:g.38209184C>T	ExAC,gnomAD
rs755361863	p.Met271Val	missense variant	-	NC_000008.11:g.38209190A>G	ExAC,gnomAD
rs1383344317	p.Met271Thr	missense variant	-	NC_000008.11:g.38209191T>C	TOPMed,gnomAD
rs781732296	p.Ser274Gly	missense variant	-	NC_000008.11:g.38209199A>G	ExAC,gnomAD
rs768134811	p.Ser274Asn	missense variant	-	NC_000008.11:g.38209200G>A	ExAC,TOPMed,gnomAD
rs768134811	p.Ser274Ile	missense variant	-	NC_000008.11:g.38209200G>T	ExAC,TOPMed,gnomAD
rs1363082269	p.Thr275Ser	missense variant	-	NC_000008.11:g.38209203C>G	gnomAD
rs756369263	p.Pro277Ser	missense variant	-	NC_000008.11:g.38209208C>T	ExAC,gnomAD
rs1266378708	p.Ser283Thr	missense variant	-	NC_000008.11:g.38209226T>A	TOPMed
rs777644395	p.Pro284Arg	missense variant	-	NC_000008.11:g.38209230C>G	ExAC
rs1224287051	p.Pro287Arg	missense variant	-	NC_000008.11:g.38209239C>G	TOPMed
rs771854090	p.Pro288Ala	missense variant	-	NC_000008.11:g.38209241C>G	ExAC,TOPMed,gnomAD
rs771854090	p.Pro288Thr	missense variant	-	NC_000008.11:g.38209241C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro288LeuPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.38209238C>-	NCI-TCGA
rs1258119634	p.Ser289Leu	missense variant	-	NC_000008.11:g.38209245C>T	gnomAD
rs531742224	p.Pro290His	missense variant	-	NC_000008.11:g.38209248C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs531742224	p.Pro290Leu	missense variant	-	NC_000008.11:g.38209248C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775387645	p.Pro290Ser	missense variant	-	NC_000008.11:g.38209247C>T	ExAC,gnomAD
rs768439295	p.Pro291Ser	missense variant	-	NC_000008.11:g.38209250C>T	ExAC,TOPMed,gnomAD
rs550146149	p.Pro291Gln	missense variant	-	NC_000008.11:g.38209251C>A	1000Genomes,ExAC,gnomAD
rs550146149	p.Pro291Arg	missense variant	-	NC_000008.11:g.38209251C>G	1000Genomes,ExAC,gnomAD
rs550146149	p.Pro291Leu	missense variant	-	NC_000008.11:g.38209251C>T	1000Genomes,ExAC,gnomAD
rs768439295	p.Pro291Ala	missense variant	-	NC_000008.11:g.38209250C>G	ExAC,TOPMed,gnomAD
rs147569371	p.Asp297Glu	missense variant	-	NC_000008.11:g.38210010T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1287550754	p.Pro301Leu	missense variant	-	NC_000008.11:g.38210021C>T	TOPMed
rs1221260002	p.Tyr302Cys	missense variant	-	NC_000008.11:g.38210024A>G	TOPMed
rs774010873	p.Tyr302His	missense variant	-	NC_000008.11:g.38210023T>C	ExAC,TOPMed,gnomAD
rs140547293	p.Ser308Cys	missense variant	-	NC_000008.11:g.38210041A>T	ESP,ExAC,TOPMed,gnomAD
rs753059239	p.Met309Thr	missense variant	-	NC_000008.11:g.38210045T>C	ExAC,gnomAD
rs534078625	p.Arg311Gly	missense variant	-	NC_000008.11:g.38210050C>G	ExAC,TOPMed,gnomAD
rs534078625	p.Arg311Trp	missense variant	-	NC_000008.11:g.38210050C>T	ExAC,TOPMed,gnomAD
rs1482685022	p.Arg311Gln	missense variant	-	NC_000008.11:g.38210051G>A	gnomAD
NCI-TCGA novel	p.His312Asn	missense variant	-	NC_000008.11:g.38210053C>A	NCI-TCGA
rs140266447	p.Asn313Ser	missense variant	-	NC_000008.11:g.38210057A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs757482419	p.Phe314Leu	missense variant	-	NC_000008.11:g.38210061T>G	ExAC,TOPMed,gnomAD
rs1437808525	p.Cys316Phe	missense variant	-	NC_000008.11:g.38210066G>T	TOPMed
rs778910259	p.Ser317Asn	missense variant	-	NC_000008.11:g.38210069G>A	ExAC,TOPMed,gnomAD
rs1470411092	p.Ser317Gly	missense variant	-	NC_000008.11:g.38210068A>G	gnomAD
rs1413368237	p.Val318Ile	missense variant	-	NC_000008.11:g.38210071G>A	gnomAD
rs143644289	p.Val318Ala	missense variant	-	NC_000008.11:g.38210072T>C	ESP,ExAC,TOPMed,gnomAD
rs1165557109	p.His319Tyr	missense variant	-	NC_000008.11:g.38210074C>T	TOPMed,gnomAD
rs565621251	p.Tyr321Cys	missense variant	-	NC_000008.11:g.38210081A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765457265	p.Glu322Lys	missense variant	-	NC_000008.11:g.38210083G>A	ExAC,TOPMed,gnomAD
rs1337874330	p.Glu322Ala	missense variant	-	NC_000008.11:g.38210084A>C	gnomAD
rs748087187	p.Ser324Leu	missense variant	-	NC_000008.11:g.38210090C>T	ExAC,TOPMed,gnomAD
rs748912076	p.Asn328Lys	missense variant	-	NC_000008.11:g.38210103C>A	ExAC,gnomAD
rs1173086087	p.Asn329Asp	missense variant	-	NC_000008.11:g.38210104A>G	TOPMed
rs770712519	p.Asn329Ser	missense variant	-	NC_000008.11:g.38210105A>G	ExAC,gnomAD
rs201044060	p.Asp330Asn	missense variant	-	NC_000008.11:g.38210107G>A	ExAC,TOPMed,gnomAD
rs866888503	p.Asp330Gly	missense variant	-	NC_000008.11:g.38210108A>G	TOPMed,gnomAD
rs866888503	p.Asp330Ala	missense variant	-	NC_000008.11:g.38210108A>C	TOPMed,gnomAD
rs759136435	p.Ser332Leu	missense variant	-	NC_000008.11:g.38210114C>T	ExAC,gnomAD
COSM750488	p.Ser332Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.38210114C>A	NCI-TCGA Cosmic
rs771754958	p.Asp333Tyr	missense variant	-	NC_000008.11:g.38210116G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp333His	missense variant	-	NC_000008.11:g.38210116G>C	NCI-TCGA
NCI-TCGA novel	p.Leu334Ile	missense variant	-	NC_000008.11:g.38210119C>A	NCI-TCGA
rs199793591	p.Leu335Ser	missense variant	-	NC_000008.11:g.38210123T>C	1000Genomes,ExAC,gnomAD
rs1443010380	p.Asp336His	missense variant	-	NC_000008.11:g.38210125G>C	gnomAD
rs761155446	p.Val339Ile	missense variant	-	NC_000008.11:g.38210134G>A	ExAC,gnomAD
rs764510085	p.Gln340Arg	missense variant	-	NC_000008.11:g.38210138A>G	ExAC,TOPMed,gnomAD
rs764510085	p.Gln340Leu	missense variant	-	NC_000008.11:g.38210138A>T	ExAC,TOPMed,gnomAD
rs761955958	p.Ser342Ile	missense variant	-	NC_000008.11:g.38210144G>T	ExAC,gnomAD
rs1483277670	p.Ala343Val	missense variant	-	NC_000008.11:g.38210147C>T	TOPMed
rs548360176	p.Glu344Gln	missense variant	-	NC_000008.11:g.38210149G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro345Ser	missense variant	-	NC_000008.11:g.38210152C>T	NCI-TCGA
rs750456419	p.Gln346His	missense variant	-	NC_000008.11:g.38210157G>C	ExAC,TOPMed,gnomAD
rs758453361	p.Asn350Ser	missense variant	-	NC_000008.11:g.38210168A>G	ExAC,TOPMed,gnomAD
rs1339137430	p.Ser353Asn	missense variant	-	NC_000008.11:g.38210177G>A	gnomAD
NCI-TCGA novel	p.His355Tyr	missense variant	-	NC_000008.11:g.38210182C>T	NCI-TCGA
rs1370042268	p.Pro356His	missense variant	-	NC_000008.11:g.38210186C>A	gnomAD
rs1454223699	p.Asn358Ser	missense variant	-	NC_000008.11:g.38210192A>G	gnomAD
rs780173164	p.Asp360Glu	missense variant	-	NC_000008.11:g.38210199T>A	ExAC,gnomAD
rs1363773740	p.Ser362Asn	missense variant	-	NC_000008.11:g.38210204G>A	TOPMed,gnomAD
rs752663779	p.Ser363Ile	missense variant	-	NC_000008.11:g.38210207G>T	ExAC,TOPMed,gnomAD
rs756015823	p.Ser363Arg	missense variant	-	NC_000008.11:g.38210208C>G	ExAC,TOPMed,gnomAD
rs777553174	p.Ser364Asn	missense variant	-	NC_000008.11:g.38210210G>A	ExAC,gnomAD
rs1199871725	p.Leu365Val	missense variant	-	NC_000008.11:g.38210212C>G	gnomAD
rs770657655	p.Glu367Val	missense variant	-	NC_000008.11:g.38210219A>T	ExAC,gnomAD
rs778684922	p.Cys369Tyr	missense variant	-	NC_000008.11:g.38210225G>A	ExAC,gnomAD
rs1305222219	p.Val370Ile	missense variant	-	NC_000008.11:g.38210227G>A	TOPMed,gnomAD
rs1244010787	p.Pro371Ala	missense variant	-	NC_000008.11:g.38210230C>G	gnomAD
rs1448891748	p.Ser372Leu	missense variant	-	NC_000008.11:g.38210234C>T	gnomAD
rs1351503289	p.Ser375Gly	missense variant	-	NC_000008.11:g.38210242A>G	TOPMed
rs376216479	p.Pro377Leu	missense variant	-	NC_000008.11:g.38210249C>T	ESP,ExAC,gnomAD
rs745554122	p.Pro377Ser	missense variant	-	NC_000008.11:g.38210248C>T	ExAC,gnomAD
rs140388982	p.Pro378Leu	missense variant	-	NC_000008.11:g.38210252C>T	ESP,ExAC,TOPMed,gnomAD
rs1471178107	p.Ser379Asn	missense variant	-	NC_000008.11:g.38210255G>A	gnomAD
rs1336921722	p.Lys381Ter	stop gained	-	NC_000008.11:g.38210260A>T	gnomAD
NCI-TCGA novel	p.Ile383ThrPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.38210266_38210267insCACAG	NCI-TCGA
NCI-TCGA novel	p.Ile383AsnPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.38210259_38210260insA	NCI-TCGA
NCI-TCGA novel	p.Ile383SerPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.38210260A>-	NCI-TCGA
rs769048022	p.Ile384Lys	missense variant	-	NC_000008.11:g.38210270T>A	ExAC,TOPMed,gnomAD
rs777018543	p.Ile384Met	missense variant	-	NC_000008.11:g.38210271A>G	ExAC,TOPMed,gnomAD
rs1472761233	p.His385Gln	missense variant	-	NC_000008.11:g.38210274T>A	TOPMed
COSM1099555	p.His385Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38210272C>A	NCI-TCGA Cosmic
rs762191338	p.His385Arg	missense variant	-	NC_000008.11:g.38210273A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu388Asp	missense variant	-	NC_000008.11:g.38210283G>C	NCI-TCGA
rs371081339	p.Val390Ala	missense variant	-	NC_000008.11:g.38210288T>C	ESP,ExAC,gnomAD
rs1273050892	p.Gln391Arg	missense variant	-	NC_000008.11:g.38210291A>G	gnomAD
rs376393739	p.Gln391His	missense variant	-	NC_000008.11:g.38210292G>C	ESP,TOPMed,gnomAD
rs1223917007	p.Gln395Glu	missense variant	-	NC_000008.11:g.38210302C>G	gnomAD
rs773393692	p.Glu396Gly	missense variant	-	NC_000008.11:g.38210306A>G	ExAC,gnomAD
rs150352965	p.Val397Leu	missense variant	-	NC_000008.11:g.38210308G>T	ESP,TOPMed,gnomAD
rs150352965	p.Val397Ile	missense variant	-	NC_000008.11:g.38210308G>A	ESP,TOPMed,gnomAD
rs1288051012	p.Glu399Ter	stop gained	-	NC_000008.11:g.38210314G>T	-
rs1022951229	p.Val401Ile	missense variant	-	NC_000008.11:g.38210320G>A	TOPMed,gnomAD
rs756033948	p.Thr405Ala	missense variant	-	NC_000008.11:g.38210332A>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr405AspPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.38210324_38210325insA	NCI-TCGA
NCI-TCGA novel	p.Asp406Val	missense variant	-	NC_000008.11:g.38210336A>T	NCI-TCGA
NCI-TCGA novel	p.Met415Ile	missense variant	-	NC_000008.11:g.38210364G>A	NCI-TCGA
rs1203592292	p.Lys418Glu	missense variant	-	NC_000008.11:g.38210371A>G	TOPMed
rs978650530	p.Glu422Gln	missense variant	-	NC_000008.11:g.38210383G>C	TOPMed,gnomAD
rs558393579	p.Val426Ile	missense variant	-	NC_000008.11:g.38210395G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs558393579	p.Val426Leu	missense variant	-	NC_000008.11:g.38210395G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs745504870	p.Gly429Arg	missense variant	-	NC_000008.11:g.38210404G>A	ExAC,TOPMed,gnomAD
rs1285038088	p.Gly430Ser	missense variant	-	NC_000008.11:g.38210407G>A	TOPMed
rs758138648	p.Asp432Gly	missense variant	-	NC_000008.11:g.38210414A>G	ExAC,TOPMed,gnomAD
rs1385766485	p.Asp432Tyr	missense variant	-	NC_000008.11:g.38210413G>T	gnomAD
rs779550882	p.Arg435Trp	missense variant	-	NC_000008.11:g.38210422C>T	ExAC,gnomAD
rs769161822	p.Ala437Ser	missense variant	-	NC_000008.11:g.38210428G>T	ExAC,gnomAD
rs748697660	p.Glu440Gln	missense variant	-	NC_000008.11:g.38210437G>C	ExAC,gnomAD
rs770128549	p.Glu440Asp	missense variant	-	NC_000008.11:g.38210439G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala441Val	missense variant	-	NC_000008.11:g.38210441C>T	NCI-TCGA
rs988634579	p.Val442Ile	missense variant	-	NC_000008.11:g.38210443G>A	TOPMed
NCI-TCGA novel	p.Cys443ArgPheSerTerUnk	frameshift	-	NC_000008.11:g.38210442_38210445TGTT>-	NCI-TCGA
COSM4936327	p.Lys444Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38210449A>C	NCI-TCGA Cosmic
rs773577269	p.Ala447Val	missense variant	-	NC_000008.11:g.38210459C>T	ExAC,gnomAD
rs1267299411	p.Ile448Thr	missense variant	-	NC_000008.11:g.38210462T>C	gnomAD
NCI-TCGA novel	p.Leu449Met	missense variant	-	NC_000008.11:g.38210464C>A	NCI-TCGA
rs1490981856	p.Glu450Lys	missense variant	-	NC_000008.11:g.38210467G>A	gnomAD
NCI-TCGA novel	p.Glu450Asp	missense variant	-	NC_000008.11:g.38210469A>C	NCI-TCGA
rs1156721587	p.Lys451Asn	missense variant	-	NC_000008.11:g.38210472A>T	TOPMed
NCI-TCGA novel	p.Lys451Thr	missense variant	-	NC_000008.11:g.38210471A>C	NCI-TCGA
rs1200847346	p.Leu452Ile	missense variant	-	NC_000008.11:g.38210473T>A	gnomAD
rs1251521456	p.Leu452Ter	stop gained	-	NC_000008.11:g.38210474T>A	gnomAD
rs1265688831	p.Glu453Lys	missense variant	-	NC_000008.11:g.38210476G>A	TOPMed,gnomAD
rs763091825	p.Gly456Glu	missense variant	-	NC_000008.11:g.38210486G>A	ExAC,gnomAD
COSM1456885	p.Gly456ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.38210476_38210477insA	NCI-TCGA Cosmic
COSM1456886	p.Gly456AspPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.38210477A>-	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0392885	High density lipoprotein measurement	phenotype	GWASDB
C0699791	Stomach Carcinoma	disease	BEFREE
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003723	RNA binding	HDA
GO:0005515	protein binding	IPI
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0051087	chaperone binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006457	protein folding	TAS
GO:0010763	positive regulation of fibroblast migration	IEA
GO:0030838	positive regulation of actin filament polymerization	IEA
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IEA
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS
GO:0043066	negative regulation of apoptotic process	TAS
GO:0045785	positive regulation of cell adhesion	IEA
GO:0051496	positive regulation of stress fiber assembly	IEA
GO:0051897	positive regulation of protein kinase B signaling	IEA
GO:0071356	cellular response to tumor necrosis factor	IDA
GO:0071364	cellular response to epidermal growth factor stimulus	IEA
GO:0072659	protein localization to plasma membrane	IEA
GO:0097178	ruffle assembly	IEA
GO:1900034	regulation of cellular response to heat	TAS
GO:1903215	negative regulation of protein targeting to mitochondrion	IMP
GO:2001145	negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1226099	Signaling by FGFR in disease	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-1839124	FGFR1 mutant receptor activation	TAS
R-HSA-2262752	Cellular responses to stress	TAS
R-HSA-3371453	Regulation of HSF1-mediated heat shock response	TAS
R-HSA-3371556	Cellular response to heat stress	TAS
R-HSA-5655302	Signaling by FGFR1 in disease	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-73887	Death Receptor Signalling	TAS
R-HSA-75893	TNF signaling	TAS
R-HSA-8853336	Signaling by plasma membrane FGFR1 fusions	TAS
R-HSA-8953897	Cellular responses to external stimuli	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of BAG4 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BAG4 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BAG4 mRNA	28628672
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of BAG4 mRNA	19114083
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of BAG4 mRNA	16788091
D000082	Acetaminophen	Acetaminophen affects the expression of BAG4 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of BAG4 gene	27153756
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of BAG4 mRNA	21298039
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BAG4 mRNA	20504355
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of BAG4 mRNA	26377693
D019207	beta Carotene	beta Carotene results in decreased expression of BAG4 mRNA	17034753
D019324	beta-Naphthoflavone	beta-Naphthoflavone results in decreased expression of BAG4 mRNA	15240111
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of BAG4 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of BAG4 mRNA	21786754
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BAG4 mRNA	28628672
C006780	bisphenol A	[bisphenol A co-treated with Genistein] results in increased methylation of BAG4 gene	28505145
C006780	bisphenol A	bisphenol A results in decreased expression of BAG4 mRNA	24066056; 25181051;
C006780	bisphenol A	bisphenol A results in increased methylation of BAG4 gene	28505145
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BAG4 mRNA	28628672
D002122	Calcium Chloride	Calcium Chloride results in increased expression of BAG4 protein	25824407
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with Ethanol] results in decreased expression of BAG4 mRNA	30517762
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BAG4 mRNA	15963578
D002746	Chlorpromazine	Chlorpromazine analog results in decreased expression of BAG4 mRNA	15924885
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of BAG4 mRNA	21595052
D016572	Cyclosporine	Cyclosporine results in decreased expression of BAG4 mRNA	20106945; 21632981;
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of BAG4 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BAG4 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BAG4 mRNA	28628672
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of BAG4 mRNA	17361019; 21266533;
D004041	Dietary Fats	Dietary Fats results in decreased expression of BAG4 mRNA	18042831
D004052	Diethylnitrosamine	[Piperonyl Butoxide co-treated with Diethylnitrosamine] affects the methylation of BAG4 gene	23968726
D004317	Doxorubicin	Doxorubicin results in decreased expression of BAG4 mRNA	29803840
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of BAG4 protein	23301498
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of BAG4 mRNA	22079256
D004958	Estradiol	Estradiol affects the expression of BAG4 mRNA	22574217
D000431	Ethanol	[Carbon Tetrachloride co-treated with Ethanol] results in decreased expression of BAG4 mRNA	30517762
D000431	Ethanol	Ethanol affects the splicing of BAG4 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of BAG4 mRNA	29097150
D005557	Formaldehyde	Formaldehyde results in decreased expression of BAG4 mRNA	20655997
D019833	Genistein	[bisphenol A co-treated with Genistein] results in increased methylation of BAG4 gene	28505145
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of BAG4 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BAG4 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BAG4 mRNA	28628672
D007213	Indomethacin	Indomethacin results in decreased expression of BAG4 mRNA	28201806
D008610	Menthol	Menthol results in increased expression of BAG4 mRNA	26760959
D008694	Methamphetamine	Methamphetamine affects the expression of BAG4 mRNA	29802913
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of BAG4 mRNA	31059758
D000073878	Palm Oil	Palm Oil results in decreased expression of BAG4 mRNA	18042831
D010269	Paraquat	Paraquat results in increased expression of BAG4 mRNA	18836921
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of BAG4 mRNA	24642059
D010882	Piperonyl Butoxide	[Piperonyl Butoxide co-treated with Diethylnitrosamine] affects the methylation of BAG4 gene	23968726
C006253	pirinixic acid	pirinixic acid results in increased expression of BAG4 mRNA	18301758
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of BAG4 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of BAG4 mRNA	22079256
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of BAG4 mRNA	23608068
D011374	Progesterone	Progesterone results in decreased expression of BAG4 mRNA	21770760
C030984	pyrene	pyrene results in decreased expression of BAG4 mRNA	15963578
D011748	Pyrogallol	Pyrogallol results in decreased expression of BAG4 mRNA	20362636
D011748	Pyrogallol	Silymarin inhibits the reaction [Pyrogallol results in decreased expression of BAG4 mRNA]	20362636
D011794	Quercetin	Quercetin results in decreased expression of BAG4 mRNA	21632981
D012715	Sesame Oil	Sesame Oil results in increased expression of BAG4 mRNA	29191790
D012838	Silymarin	Silymarin inhibits the reaction [Pyrogallol results in decreased expression of BAG4 mRNA]	20362636
C009277	sodium arsenate	sodium arsenate results in increased expression of BAG4 mRNA	21795629
D019311	Staurosporine	Staurosporine results in decreased expression of BAG4 protein	19352495
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BAG4 mRNA	21570461
D013849	Thimerosal	Thimerosal results in decreased expression of BAG4 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of BAG4 mRNA	23179753; 27188386;
D001335	Vehicle Emissions	Vehicle Emissions affects the expression of BAG4 mRNA	23940539

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0143	Chaperone
KW-0963	Cytoplasm
KW-0488	Methylation
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR039773	BAG_chaperone_regulator
IPR036533	BAG_dom_sf
IPR003103	BAG_domain

PROSITE

PROSITE ID	PROSITE Term
PS51035	BAG

Pfam

Pfam ID	Pfam Term
PF02179	BAG

Gene: BAG4

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction