CleftGeneDB-Search

Gene: BARX1

Basic information

Tag	Content
Uniprot ID	Q9HBU1; Q6P2R4; Q96GH8;
Entrez ID	56033
Genbank protein ID	AAH09458.1; AAH64363.1; EAW62873.1; AAG23738.1;
Genbank nucleotide ID	NM_021570.3
Ensembl protein ID	ENSP00000253968; ENSP00000385613;
Ensembl nucleotide ID	ENSG00000131668
Gene name	Homeobox protein BarH-like 1
Gene symbol	BARX1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter.
Sequence	MQRPGEPGAA RFGPPEGCAD HRPHRYRSFM IEEILTEPPG PKGAAPAAAA AAAGELLKFG 60 VQALLAARPF HSHLAVLKAE QAAVFKFPLA PLGCSGLSSA LLAAGPGLPG AAGAPHLPLE 120 LQLRGKLEAA GPGEPGTKAK KGRRSRTVFT ELQLMGLEKR FEKQKYLSTP DRIDLAESLG 180 LSQLQVKTWY QNRRMKWKKI VLQGGGLESP TKPKGRPKKN SIPTSEQLTE QERAKDAEKP 240 AEVPGEPSDR SRED 254

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
2DMT

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	BARX1	610486	E2RF36		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BARX1		A0A452F3S2		Capra hircus	Prediction	More>>
1:1 ortholog	BARX1	56033	Q9HBU1		Homo sapiens	Prediction	More>>
1:1 ortholog	Barx1	12022	Q9ER42	CPO	Mus musculus	Publication	More>>
1:1 ortholog	BARX1	745472	H2R4D7		Pan troglodytes	Prediction	More>>
1:1 ortholog	BARX1		F1SUC6		Sus scrofa	Prediction	More>>
1:1 ortholog	Barx1	364680	D3ZA67		Rattus norvegicus	Prediction	More>>
1:1 ortholog	barx1	553644	B2GRF3		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs895896348	p.Pro4Ser	missense variant	-	NC_000009.12:g.93955137G>A	TOPMed,gnomAD
rs1304665974	p.Gly5Val	missense variant	-	NC_000009.12:g.93955133C>A	gnomAD
rs1483686725	p.Glu6Lys	missense variant	-	NC_000009.12:g.93955131C>T	TOPMed
rs774263956	p.Pro7Leu	missense variant	-	NC_000009.12:g.93955127G>A	ExAC,TOPMed,gnomAD
rs1190383513	p.Pro7Ser	missense variant	-	NC_000009.12:g.93955128G>A	gnomAD
rs1262291713	p.Ala10Glu	missense variant	-	NC_000009.12:g.93955118G>T	gnomAD
rs1356935133	p.Gly13Cys	missense variant	-	NC_000009.12:g.93955110C>A	gnomAD
rs1356935133	p.Gly13Ser	missense variant	-	NC_000009.12:g.93955110C>T	gnomAD
rs770854053	p.Pro14Thr	missense variant	-	NC_000009.12:g.93955107G>T	ExAC,gnomAD
rs1246522511	p.Pro15Arg	missense variant	-	NC_000009.12:g.93955103G>C	gnomAD
rs1338964571	p.Gly17Asp	missense variant	-	NC_000009.12:g.93955097C>T	gnomAD
rs1412540917	p.Cys18Ser	missense variant	-	NC_000009.12:g.93955094C>G	TOPMed
rs934796935	p.Ala19Pro	missense variant	-	NC_000009.12:g.93955092C>G	TOPMed,gnomAD
rs934796935	p.Ala19Thr	missense variant	-	NC_000009.12:g.93955092C>T	TOPMed,gnomAD
rs1448262683	p.Asp20Ala	missense variant	-	NC_000009.12:g.93955088T>G	TOPMed
rs924748384	p.Arg22Gln	missense variant	-	NC_000009.12:g.93955082C>T	TOPMed,gnomAD
rs1314290662	p.Arg22Trp	missense variant	-	NC_000009.12:g.93955083G>A	TOPMed
rs1288504701	p.His24Arg	missense variant	-	NC_000009.12:g.93955076T>C	TOPMed
rs1218028254	p.Arg25His	missense variant	-	NC_000009.12:g.93955073C>T	TOPMed
rs1353455167	p.Arg25Cys	missense variant	-	NC_000009.12:g.93955074G>A	TOPMed
rs1327136481	p.Arg27Leu	missense variant	-	NC_000009.12:g.93955067C>A	TOPMed,gnomAD
rs1303027019	p.Met30Leu	missense variant	-	NC_000009.12:g.93955059T>G	gnomAD
rs1253384506	p.Ile31Val	missense variant	-	NC_000009.12:g.93955056T>C	TOPMed,gnomAD
rs1201657492	p.Thr36Met	missense variant	-	NC_000009.12:g.93955040G>A	TOPMed,gnomAD
rs1182986365	p.Pro39Leu	missense variant	-	NC_000009.12:g.93955031G>A	TOPMed
rs1418324655	p.Gly40Glu	missense variant	-	NC_000009.12:g.93955028C>T	TOPMed,gnomAD
rs781194809	p.Gly40Arg	missense variant	-	NC_000009.12:g.93955029C>G	ExAC,gnomAD
rs1476079637	p.Lys42Arg	missense variant	-	NC_000009.12:g.93955022T>C	TOPMed,gnomAD
rs1373164993	p.Lys42Asn	missense variant	-	NC_000009.12:g.93955021C>A	gnomAD
rs1476079637	p.Lys42Met	missense variant	-	NC_000009.12:g.93955022T>A	TOPMed,gnomAD
rs560200241	p.Ala44Thr	missense variant	-	NC_000009.12:g.93955017C>T	1000Genomes,gnomAD
rs1489837185	p.Ala44Val	missense variant	-	NC_000009.12:g.93955016G>A	TOPMed,gnomAD
rs1489837185	p.Ala44Gly	missense variant	-	NC_000009.12:g.93955016G>C	TOPMed,gnomAD
rs1271031550	p.Ala45Thr	missense variant	-	NC_000009.12:g.93955014C>T	TOPMed,gnomAD
rs1175286609	p.Ala45Glu	missense variant	-	NC_000009.12:g.93955013G>T	TOPMed
rs1437054497	p.Ala47Thr	missense variant	-	NC_000009.12:g.93955008C>T	gnomAD
rs191789925	p.Ala48Thr	missense variant	-	NC_000009.12:g.93955005C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1216574487	p.Ala49Thr	missense variant	-	NC_000009.12:g.93955002C>T	gnomAD
rs1340093500	p.Ala49Val	missense variant	-	NC_000009.12:g.93955001G>A	gnomAD
rs1347925732	p.Ala51Val	missense variant	-	NC_000009.12:g.93954995G>A	gnomAD
rs576837358	p.Ala51Thr	missense variant	-	NC_000009.12:g.93954996C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1441897044	p.Ala52Val	missense variant	-	NC_000009.12:g.93954992G>A	gnomAD
rs1353143378	p.Gly54Ala	missense variant	-	NC_000009.12:g.93954986C>G	gnomAD
rs758702906	p.Leu56Gln	missense variant	-	NC_000009.12:g.93954980A>T	ExAC,gnomAD
rs1400661440	p.Lys58Arg	missense variant	-	NC_000009.12:g.93954974T>C	TOPMed,gnomAD
rs1273016991	p.Gly60Ser	missense variant	-	NC_000009.12:g.93954969C>T	TOPMed
rs1479197274	p.Val61Gly	missense variant	-	NC_000009.12:g.93954965A>C	TOPMed,gnomAD
rs1479197274	p.Val61Glu	missense variant	-	NC_000009.12:g.93954965A>T	TOPMed,gnomAD
rs964462092	p.Gln62Arg	missense variant	-	NC_000009.12:g.93954962T>C	TOPMed
rs1200103921	p.Ala63Gly	missense variant	-	NC_000009.12:g.93954959G>C	gnomAD
rs941962960	p.Ala66Glu	missense variant	-	NC_000009.12:g.93954950G>T	gnomAD
rs941962960	p.Ala66Gly	missense variant	-	NC_000009.12:g.93954950G>C	gnomAD
rs1449899122	p.Ala67Val	missense variant	-	NC_000009.12:g.93954947G>A	TOPMed
rs1198280925	p.Ser72Arg	missense variant	-	NC_000009.12:g.93954931G>T	TOPMed
rs773164189	p.Ala75Asp	missense variant	-	NC_000009.12:g.93953187G>T	ExAC,gnomAD
rs773164189	p.Ala75Val	missense variant	-	NC_000009.12:g.93953187G>A	ExAC,gnomAD
rs1313862806	p.Val76Met	missense variant	-	NC_000009.12:g.93953185C>T	TOPMed,gnomAD
rs1302918191	p.Lys78Arg	missense variant	-	NC_000009.12:g.93953178T>C	gnomAD
rs1489234016	p.Glu80Lys	missense variant	-	NC_000009.12:g.93953173C>T	gnomAD
rs1489234016	p.Glu80Ter	stop gained	-	NC_000009.12:g.93953173C>A	gnomAD
rs1161255040	p.Phe85Leu	missense variant	-	NC_000009.12:g.93953156G>C	gnomAD
rs747038748	p.Lys86Asn	missense variant	-	NC_000009.12:g.93953153C>A	ExAC,gnomAD
rs1171309735	p.Lys86Glu	missense variant	-	NC_000009.12:g.93953155T>C	TOPMed
rs780245526	p.Pro88Gln	missense variant	-	NC_000009.12:g.93953148G>T	ExAC,gnomAD
rs541371621	p.Leu89Val	missense variant	-	NC_000009.12:g.93953146G>C	TOPMed
rs746115723	p.Leu92Pro	missense variant	-	NC_000009.12:g.93953136A>G	ExAC,TOPMed,gnomAD
rs1185977992	p.Gly93Cys	missense variant	-	NC_000009.12:g.93953134C>A	gnomAD
rs1484955097	p.Gly93Asp	missense variant	-	NC_000009.12:g.93953133C>T	gnomAD
rs1185977992	p.Gly93Arg	missense variant	-	NC_000009.12:g.93953134C>G	gnomAD
rs549526966	p.Cys94Arg	missense variant	-	NC_000009.12:g.93953131A>G	ExAC,TOPMed,gnomAD
rs532945486	p.Ser95Leu	missense variant	-	NC_000009.12:g.93953127G>A	1000Genomes,ExAC,gnomAD
rs1442164135	p.Ser95Pro	missense variant	-	NC_000009.12:g.93953128A>G	TOPMed
rs1379510866	p.Leu97Pro	missense variant	-	NC_000009.12:g.93953121A>G	TOPMed
rs1361139386	p.Ser98Arg	missense variant	-	NC_000009.12:g.93953117G>C	TOPMed,gnomAD
rs778400548	p.Ser98Ile	missense variant	-	NC_000009.12:g.93953118C>A	ExAC,TOPMed,gnomAD
rs778400548	p.Ser98Asn	missense variant	-	NC_000009.12:g.93953118C>T	ExAC,TOPMed,gnomAD
rs1313049531	p.Ser99Phe	missense variant	-	NC_000009.12:g.93953115G>A	gnomAD
rs1213446917	p.Ala100Thr	missense variant	-	NC_000009.12:g.93953113C>T	gnomAD
rs756740714	p.Ala100Gly	missense variant	-	NC_000009.12:g.93953112G>C	ExAC,TOPMed,gnomAD
rs1245867728	p.Ala104Ser	missense variant	-	NC_000009.12:g.93953101C>A	TOPMed,gnomAD
rs767061973	p.Gly105Arg	missense variant	-	NC_000009.12:g.93953098C>T	ExAC,TOPMed,gnomAD
rs544075964	p.Pro106Ser	missense variant	-	NC_000009.12:g.93953095G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs544075964	p.Pro106Ala	missense variant	-	NC_000009.12:g.93953095G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs531602020	p.Gly107Arg	missense variant	-	NC_000009.12:g.93953092C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs531602020	p.Gly107Arg	missense variant	-	NC_000009.12:g.93953092C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs531602020	p.Gly107Trp	missense variant	-	NC_000009.12:g.93953092C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1421759690	p.Gly110Ser	missense variant	-	NC_000009.12:g.93953083C>T	TOPMed,gnomAD
rs201946673	p.Ala111Thr	missense variant	-	NC_000009.12:g.93953080C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201946673	p.Ala111Ser	missense variant	-	NC_000009.12:g.93953080C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1267457561	p.Ala112Val	missense variant	-	NC_000009.12:g.93953076G>A	gnomAD
rs1044700919	p.Ala112Thr	missense variant	-	NC_000009.12:g.93953077C>T	TOPMed
rs1403090266	p.Ala114Thr	missense variant	-	NC_000009.12:g.93953071C>T	TOPMed
rs761812989	p.His116Pro	missense variant	-	NC_000009.12:g.93953064T>G	ExAC,gnomAD
rs772214631	p.Leu117Met	missense variant	-	NC_000009.12:g.93953062G>T	ExAC,gnomAD
rs1218772762	p.Pro118Leu	missense variant	-	NC_000009.12:g.93953058G>A	gnomAD
NCI-TCGA novel	p.Glu120Lys	missense variant	-	NC_000009.12:g.93953053C>T	NCI-TCGA
rs771325755	p.Leu121Phe	missense variant	-	NC_000009.12:g.93953048C>G	ExAC,gnomAD
rs1391213209	p.Gln122His	missense variant	-	NC_000009.12:g.93953045C>G	gnomAD
rs373384950	p.Leu123Phe	missense variant	-	NC_000009.12:g.93953044G>A	ESP,TOPMed,gnomAD
rs1460666524	p.Arg124His	missense variant	-	NC_000009.12:g.93953040C>T	gnomAD
rs369928804	p.Ala129Ser	missense variant	-	NC_000009.12:g.93953026C>A	ESP,ExAC,gnomAD
rs1427777963	p.Ala130Glu	missense variant	-	NC_000009.12:g.93953022G>T	gnomAD
rs868608877	p.Gly131Asp	missense variant	-	NC_000009.12:g.93953019C>T	gnomAD
rs868608877	p.Gly131Val	missense variant	-	NC_000009.12:g.93953019C>A	gnomAD
rs778351778	p.Pro132Arg	missense variant	-	NC_000009.12:g.93953016G>C	ExAC,gnomAD
rs748707341	p.Gly136Ser	missense variant	-	NC_000009.12:g.93953005C>T	ExAC,gnomAD
rs780522907	p.Thr137Ser	missense variant	-	NC_000009.12:g.93953001G>C	ExAC,TOPMed,gnomAD
rs780522907	p.Thr137Ile	missense variant	-	NC_000009.12:g.93953001G>A	ExAC,TOPMed,gnomAD
rs1198689451	p.Ala139Val	missense variant	-	NC_000009.12:g.93952995G>A	gnomAD
rs754547962	p.Lys140Arg	missense variant	-	NC_000009.12:g.93952992T>C	ExAC,gnomAD
rs1261122752	p.Gly142Glu	missense variant	-	NC_000009.12:g.93952986C>T	gnomAD
rs1331406485	p.Arg143His	missense variant	-	NC_000009.12:g.93952983C>T	TOPMed,gnomAD
COSM1463739	p.Arg143Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952984G>A	NCI-TCGA Cosmic
rs866954519	p.Ser145Asn	missense variant	-	NC_000009.12:g.93952977C>T	gnomAD
rs866954519	p.Ser145Ile	missense variant	-	NC_000009.12:g.93952977C>A	gnomAD
rs1389519411	p.Arg146His	missense variant	-	NC_000009.12:g.93952974C>T	gnomAD
NCI-TCGA novel	p.Arg146Cys	missense variant	-	NC_000009.12:g.93952975G>A	NCI-TCGA
rs1332350470	p.Glu151Lys	missense variant	-	NC_000009.12:g.93952960C>T	gnomAD
rs1179141312	p.Gln153Ter	stop gained	-	NC_000009.12:g.93952954G>A	gnomAD
rs1466998124	p.Gln153His	missense variant	-	NC_000009.12:g.93952952C>G	gnomAD
NCI-TCGA novel	p.Glu162Asp	missense variant	-	NC_000009.12:g.93952925C>A	NCI-TCGA
rs765995311	p.Glu162Ala	missense variant	-	NC_000009.12:g.93952926T>G	ExAC,TOPMed,gnomAD
COSM4844481	p.Glu162Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952927C>T	NCI-TCGA Cosmic
rs1239576202	p.Gln164Lys	missense variant	-	NC_000009.12:g.93952921G>T	gnomAD
rs142710643	p.Gln164His	missense variant	-	NC_000009.12:g.93952919C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750149824	p.Thr169Met	missense variant	-	NC_000009.12:g.93952905G>A	ExAC,gnomAD
rs750149824	p.Thr169Lys	missense variant	-	NC_000009.12:g.93952905G>T	ExAC,gnomAD
rs531210852	p.Pro170Leu	missense variant	-	NC_000009.12:g.93952902G>A	gnomAD
rs778532537	p.Ile173Thr	missense variant	-	NC_000009.12:g.93952811A>G	ExAC,gnomAD
rs1231334745	p.Leu175Ile	missense variant	-	NC_000009.12:g.93952806G>T	TOPMed
COSM3659722	p.Ser178Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952796G>A	NCI-TCGA Cosmic
rs556916619	p.Leu181Met	missense variant	-	NC_000009.12:g.93952788G>T	1000Genomes,ExAC,gnomAD
rs201922522	p.Leu184Val	missense variant	-	NC_000009.12:g.93952779A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1263813289	p.Gln185Ter	stop gained	-	NC_000009.12:g.93952776G>A	gnomAD
rs751625001	p.Arg193Trp	missense variant	-	NC_000009.12:g.93952752G>A	ExAC,gnomAD
COSM2732646	p.Arg193Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952751C>T	NCI-TCGA Cosmic
rs1198131040	p.Met195Leu	missense variant	-	NC_000009.12:g.93952746T>A	gnomAD
NCI-TCGA novel	p.Trp197Arg	missense variant	-	NC_000009.12:g.93952740A>T	NCI-TCGA
rs1382974696	p.Ile200Val	missense variant	-	NC_000009.12:g.93952731T>C	gnomAD
rs745365151	p.Val201Met	missense variant	-	NC_000009.12:g.93952328C>T	ExAC,gnomAD
rs557180708	p.Gln203Arg	missense variant	-	NC_000009.12:g.93952321T>C	gnomAD
rs770548524	p.Gly204Asp	missense variant	-	NC_000009.12:g.93952318C>T	ExAC,TOPMed,gnomAD
rs1175534327	p.Gly205Asp	missense variant	-	NC_000009.12:g.93952315C>T	gnomAD
rs1400402143	p.Gly205Ser	missense variant	-	NC_000009.12:g.93952316C>T	gnomAD
rs748908921	p.Gly206Ser	missense variant	-	NC_000009.12:g.93952313C>T	ExAC,TOPMed,gnomAD
rs957172729	p.Glu208Gly	missense variant	-	NC_000009.12:g.93952306T>C	TOPMed,gnomAD
rs957172729	p.Glu208Ala	missense variant	-	NC_000009.12:g.93952306T>G	TOPMed,gnomAD
rs1180771426	p.Pro210Leu	missense variant	-	NC_000009.12:g.93952300G>A	gnomAD
rs1239629658	p.Thr211Pro	missense variant	-	NC_000009.12:g.93952298T>G	TOPMed
rs149189558	p.Thr211Ile	missense variant	-	NC_000009.12:g.93952297G>A	ESP,ExAC,TOPMed,gnomAD
rs1279996964	p.Arg216Trp	missense variant	-	NC_000009.12:g.93952283G>A	gnomAD
rs1235663514	p.Arg216Gln	missense variant	-	NC_000009.12:g.93952282C>T	TOPMed
rs948370232	p.Lys218Arg	missense variant	-	NC_000009.12:g.93952276T>C	TOPMed,gnomAD
COSM1111309	p.Lys219Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952272C>A	NCI-TCGA Cosmic
rs755024473	p.Asn220Ile	missense variant	-	NC_000009.12:g.93952270T>A	ExAC,gnomAD
COSM1315034	p.Ser221Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.93952267G>C	NCI-TCGA Cosmic
rs145379597	p.Ile222Val	missense variant	-	NC_000009.12:g.93952265T>C	ESP,ExAC,TOPMed,gnomAD
rs1157606968	p.Pro223Ser	missense variant	-	NC_000009.12:g.93952262G>A	TOPMed
rs757450124	p.Thr224Arg	missense variant	-	NC_000009.12:g.93952258G>C	ExAC,TOPMed,gnomAD
rs757450124	p.Thr224Met	missense variant	-	NC_000009.12:g.93952258G>A	ExAC,TOPMed,gnomAD
rs992336948	p.Thr224Ala	missense variant	-	NC_000009.12:g.93952259T>C	gnomAD
rs961583468	p.Glu226Gln	missense variant	-	NC_000009.12:g.93952253C>G	TOPMed
rs1324622909	p.Gln227Lys	missense variant	-	NC_000009.12:g.93952250G>T	gnomAD
rs201122153	p.Leu228Phe	missense variant	-	NC_000009.12:g.93952247G>A	ESP,ExAC,TOPMed,gnomAD
rs201122153	p.Leu228Val	missense variant	-	NC_000009.12:g.93952247G>C	ESP,ExAC,TOPMed,gnomAD
rs560651229	p.Glu230Lys	missense variant	-	NC_000009.12:g.93952241C>T	1000Genomes,ExAC,gnomAD
rs972503300	p.Arg233Cys	missense variant	-	NC_000009.12:g.93952232G>A	TOPMed
rs972503300	p.Arg233Ser	missense variant	-	NC_000009.12:g.93952232G>T	TOPMed
rs1378266524	p.Arg233Leu	missense variant	-	NC_000009.12:g.93952231C>A	TOPMed,gnomAD
rs1446509008	p.Ala234Ser	missense variant	-	NC_000009.12:g.93952229C>A	TOPMed
rs1181808628	p.Asp236Asn	missense variant	-	NC_000009.12:g.93952223C>T	gnomAD
rs773850927	p.Glu238Lys	missense variant	-	NC_000009.12:g.93952217C>T	ExAC,TOPMed,gnomAD
rs1215715737	p.Lys239Ter	stop gained	-	NC_000009.12:g.93952214T>A	gnomAD
rs770372550	p.Pro240Thr	missense variant	-	NC_000009.12:g.93952211G>T	ExAC,gnomAD
rs1288596242	p.Pro240Leu	missense variant	-	NC_000009.12:g.93952210G>A	gnomAD
rs758410858	p.Ala241Thr	missense variant	-	NC_000009.12:g.93952208C>T	TOPMed,gnomAD
rs1313975275	p.Ala241Val	missense variant	-	NC_000009.12:g.93952207G>A	TOPMed,gnomAD
rs1313975275	p.Ala241Glu	missense variant	-	NC_000009.12:g.93952207G>T	TOPMed,gnomAD
rs1226080454	p.Val243Leu	missense variant	-	NC_000009.12:g.93952202C>A	gnomAD
rs1239139496	p.Pro244Leu	missense variant	-	NC_000009.12:g.93952198G>A	TOPMed
rs1429948249	p.Glu246Ter	stop gained	-	NC_000009.12:g.93952193C>A	gnomAD
rs1423783980	p.Pro247Arg	missense variant	-	NC_000009.12:g.93952189G>C	gnomAD
rs772711999	p.Ser248Asn	missense variant	-	NC_000009.12:g.93952186C>T	ExAC,gnomAD
rs1358624725	p.Ser248Gly	missense variant	-	NC_000009.12:g.93952187T>C	gnomAD
rs1456235522	p.Asp249Tyr	missense variant	-	NC_000009.12:g.93952184C>A	TOPMed
rs1171882411	p.Arg250Trp	missense variant	-	NC_000009.12:g.93952181T>A	gnomAD
rs1365144935	p.Arg250Ser	missense variant	-	NC_000009.12:g.93952179C>A	gnomAD
rs374624014	p.Arg252Leu	missense variant	-	NC_000009.12:g.93952174C>A	ESP,TOPMed,gnomAD
rs374624014	p.Arg252His	missense variant	-	NC_000009.12:g.93952174C>T	ESP,TOPMed,gnomAD
rs199527359	p.Glu253Lys	missense variant	-	NC_000009.12:g.93952172C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004763	Barrett Esophagus	disease	GWASCAT
C0008924	Cleft upper lip	disease	LHGDN
C0012242	Digestive System Disorders	group	GWASCAT
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE;CTD_human;GWASCAT
C1275122	Familial multiple trichoepitheliomata	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003700	DNA-binding transcription factor activity	NAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007267	cell-cell signaling	IEA
GO:0009888	tissue development	IBA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0030178	negative regulation of Wnt signaling pathway	IEA
GO:0030855	epithelial cell differentiation	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048513	animal organ development	IBA
GO:0048536	spleen development	IEA
GO:0055123	digestive system development	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of BARX1 mRNA	18648102
C496492	abrine	abrine results in decreased expression of BARX1 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of BARX1 gene	28458013
D000447	Aldehydes	Aldehydes results in increased expression of BARX1 mRNA	25014914
D016718	Arachidonic Acid	Arachidonic Acid results in decreased expression of BARX1 mRNA	16623957
C015001	arsenite	arsenite results in increased methylation of BARX1 promoter	23974009
C006780	bisphenol A	bisphenol A affects the expression of BARX1 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the methylation of BARX1 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of BARX1 mRNA	26063408
C006780	bisphenol A	bisphenol A results in decreased expression of BARX1 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in increased expression of BARX1 mRNA	26079696
C584509	C646 compound	C646 compound results in decreased expression of BARX1 mRNA	26191083
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of BARX1 mRNA	18974090
D019256	Cadmium Chloride	Cadmium Chloride results in decreased methylation of BARX1 promoter	22457795
D002117	Calcitriol	Calcitriol results in increased expression of BARX1 mRNA	16002434
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of BARX1 gene	20938992
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of BARX1 mRNA	23914054
D004147	Dioxins	Dioxins affects the expression of BARX1 mRNA	20463971
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of BARX1 gene	20938992
C039281	furan	furan results in increased expression of BARX1 mRNA	27387713
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of BARX1 gene	20938992
C046012	pentanal	pentanal results in increased expression of BARX1 mRNA	26079696
C005556	propionaldehyde	propionaldehyde results in increased expression of BARX1 mRNA	26079696
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of BARX1 mRNA	21427059
D012834	Silver	Silver results in increased expression of BARX1 mRNA	27131904
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BARX1 mRNA	17586704
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of BARX1 mRNA	24058054
D014635	Valproic Acid	Valproic Acid results in increased expression of BARX1 mRNA	21427059

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR020479	Homeobox_metazoa
IPR000047	HTH_motif

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: BARX1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

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