CleftGeneDB-Search

Gene: B9D1

Basic information

Tag	Content
Uniprot ID	Q9UPM9; Q9BU22;
Entrez ID	27077
Genbank protein ID	AAH02944.1; BAA82655.1;
Genbank nucleotide ID	XM_017024452.1; NM_001321219.1; NM_001321216.1; NM_015681.4; NM_001321218.1;
Ensembl protein ID	ENSP00000268841; ENSP00000261499;
Ensembl nucleotide ID	ENSG00000108641
Gene name	B9 domain-containing protein 1
Gene symbol	B9D1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).
Sequence	MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQITSKSQDV 60 RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPF SPGRHKRTIP 120 MFVPESTSKL QKFTSWFMGR RPEYTDPKVV AQGEGREVTR VRSQGFVTLL FNVVTKDMRK 180 LGYDTGPSDT QGVLGPSPPQ SFPQ 204

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	Cleft type	Species	Evidence	Details
1:1 ortholog	B9D1	505335	E1BKI6		Bos taurus	Prediction	More>>
1:1 ortholog	B9D1	102180795	A0A452G5L1		Capra hircus	Prediction	More>>
1:1 ortholog	B9D1	100063389	F7BHN1		Equus caballus	Prediction	More>>
1:1 ortholog	B9D1	27077	Q9UPM9		Homo sapiens	Prediction	More>>
1:1 ortholog	B9d1	27078	Q9R1S0	CPO	Mus musculus	Publication	More>>
1:1 ortholog	B9D1	742196	H2QCF2		Pan troglodytes	Prediction	More>>
1:1 ortholog	B9D1		A0A287BIY2		Sus scrofa	Prediction	More>>
1:1 ortholog	B9d1	287383	P0C5J2		Rattus norvegicus	Prediction	More>>
1:1 ortholog	b9d1		F1QU58		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1355899264	p.Ala2Thr	missense variant	-	NC_000017.11:g.19362566C>T	TOPMed
rs148563865	p.Ala4Gly	missense variant	-	NC_000017.11:g.19362559G>C	ESP,ExAC,TOPMed,gnomAD
rs745981234	p.Val8Ile	missense variant	-	NC_000017.11:g.19362548C>T	ExAC,gnomAD
rs1184352870	p.Phe9Cys	missense variant	-	NC_000017.11:g.19362544A>C	TOPMed,gnomAD
rs1443586766	p.Leu10Pro	missense variant	-	NC_000017.11:g.19362541A>G	gnomAD
rs1046425051	p.Leu10Val	missense variant	-	NC_000017.11:g.19362542G>C	TOPMed
rs1246686474	p.Met12Thr	missense variant	-	NC_000017.11:g.19362535A>G	gnomAD
rs1485893157	p.Val13Ile	missense variant	-	NC_000017.11:g.19362533C>T	TOPMed,gnomAD
rs764022966	p.Asn14Ser	missense variant	-	NC_000017.11:g.19362529T>C	ExAC,TOPMed,gnomAD
rs1214262688	p.Asn14Lys	missense variant	-	NC_000017.11:g.19362528G>T	gnomAD
rs1362060821	p.Gly15Ala	missense variant	-	NC_000017.11:g.19362526C>G	gnomAD
rs1292879005	p.Gln16Leu	missense variant	-	NC_000017.11:g.19362523T>A	gnomAD
rs758139304	p.Val17Met	missense variant	-	NC_000017.11:g.19362521C>T	ExAC,gnomAD
rs1280021718	p.Ser19Arg	missense variant	-	NC_000017.11:g.19362515T>G	TOPMed
rs752474351	p.Ser19Asn	missense variant	-	NC_000017.11:g.19362514C>T	ExAC,gnomAD
rs1382912462	p.Ser19Arg	missense variant	-	NC_000017.11:g.19362513G>T	gnomAD
rs1361342982	p.Ala20Thr	missense variant	-	NC_000017.11:g.19362512C>T	TOPMed,gnomAD
rs1361342982	p.Ala20Ser	missense variant	-	NC_000017.11:g.19362512C>A	TOPMed,gnomAD
rs1191082234	p.Gln21Lys	missense variant	-	NC_000017.11:g.19362509G>T	gnomAD
rs766799080	p.Pro23Ala	missense variant	-	NC_000017.11:g.19360385G>C	ExAC,TOPMed,gnomAD
rs763490372	p.Pro23Arg	missense variant	-	NC_000017.11:g.19360384G>C	ExAC,TOPMed,gnomAD
rs770310163	p.Glu24Lys	missense variant	-	NC_000017.11:g.19360382C>T	ExAC,gnomAD
rs943728198	p.Tyr25Cys	missense variant	-	NC_000017.11:g.19360378T>C	gnomAD
rs943728198	p.Tyr25Phe	missense variant	-	NC_000017.11:g.19360378T>A	gnomAD
COSM3515027	p.Asp26Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.19360376C>T	NCI-TCGA Cosmic
rs759910675	p.Asp26Ala	missense variant	-	NC_000017.11:g.19360375T>G	ExAC
NCI-TCGA novel	p.Asp27Tyr	missense variant	-	NC_000017.11:g.19360373C>A	NCI-TCGA
rs777003828	p.Leu28Val	missense variant	-	NC_000017.11:g.19360370G>C	ExAC
NCI-TCGA novel	p.Tyr29Ter	missense variant	-	NC_000017.11:g.19360365G>T	NCI-TCGA
rs1395388731	p.Tyr29Cys	missense variant	-	NC_000017.11:g.19360366T>C	gnomAD
rs1017476309	p.Cys30Ser	missense variant	-	NC_000017.11:g.19360363C>G	TOPMed
rs1470703479	p.Tyr32His	missense variant	-	NC_000017.11:g.19360358A>G	gnomAD
rs771170000	p.Tyr32Cys	missense variant	-	NC_000017.11:g.19360357T>C	ExAC,TOPMed,gnomAD
RCV000778492	p.Tyr32Cys	missense variant	B9D1-Related Disorders	NC_000017.11:g.19360357T>C	ClinVar
rs771997194	p.Gly37Ser	missense variant	-	NC_000017.11:g.19360343C>T	ExAC,gnomAD
rs1248771637	p.Gln38Arg	missense variant	-	NC_000017.11:g.19360339T>C	TOPMed,gnomAD
rs1248771637	p.Gln38Pro	missense variant	-	NC_000017.11:g.19360339T>G	TOPMed,gnomAD
rs778756975	p.Thr43Lys	missense variant	-	NC_000017.11:g.19360324G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr43GlnPheSerTerUnkUnkUnk	frameshift	-	NC_000017.11:g.19360326G>-	NCI-TCGA
rs149845104	p.Ala44Val	missense variant	-	NC_000017.11:g.19360321G>A	ESP,ExAC,TOPMed,gnomAD
rs1483550746	p.Glu47Asp	missense variant	-	NC_000017.11:g.19357943C>G	TOPMed
rs773267624	p.Glu48Gly	missense variant	-	NC_000017.11:g.19357941T>C	ExAC,TOPMed,gnomAD
rs546359789	p.Ser51Pro	missense variant	-	NC_000017.11:g.19357933A>G	UniProt,dbSNP
VAR_075700	p.Ser51Pro	missense variant	-	NC_000017.11:g.19357933A>G	UniProt
rs546359789	p.Ser51Pro	missense variant	-	NC_000017.11:g.19357933A>G	ExAC,TOPMed,gnomAD
rs774333027	p.Thr54Ile	missense variant	-	NC_000017.11:g.19357923G>A	ExAC,gnomAD
rs1313878249	p.Gln58Ter	stop gained	-	NC_000017.11:g.19357912G>A	gnomAD
NCI-TCGA novel	p.Val60Met	missense variant	-	NC_000017.11:g.19357906C>T	NCI-TCGA
rs868006869	p.Arg61Gln	missense variant	-	NC_000017.11:g.19357902C>T	TOPMed,gnomAD
rs73980038	p.Arg61Trp	missense variant	-	NC_000017.11:g.19357903G>A	UniProt,dbSNP
VAR_066995	p.Arg61Trp	missense variant	-	NC_000017.11:g.19357903G>A	UniProt
rs73980038	p.Arg61Trp	missense variant	-	NC_000017.11:g.19357903G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1319576405	p.Gln62Ter	stop gained	-	NC_000017.11:g.19357900G>A	gnomAD
rs755812806	p.Leu64Arg	missense variant	-	NC_000017.11:g.19357893A>C	ExAC,gnomAD
rs952400237	p.Val65Gly	missense variant	-	NC_000017.11:g.19357890A>C	TOPMed
rs376644690	p.Trp66Cys	missense variant	-	NC_000017.11:g.19357886C>A	ESP,ExAC,TOPMed,gnomAD
rs1006221533	p.Phe68Leu	missense variant	-	NC_000017.11:g.19357880G>T	TOPMed,gnomAD
rs780639433	p.Ile70Val	missense variant	-	NC_000017.11:g.19357876T>C	ExAC,TOPMed,gnomAD
rs886039811	p.Ile70Thr	missense variant	-	NC_000017.11:g.19357875A>G	gnomAD
rs1476439277	p.Val72Ala	missense variant	-	NC_000017.11:g.19357869A>G	gnomAD
COSM4937843	p.Phe74Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.19357864A>T	NCI-TCGA Cosmic
rs751099090	p.Lys75Gln	missense variant	-	NC_000017.11:g.19357861T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser76AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.19357858T>-	NCI-TCGA
rs1364533835	p.Asn78Ser	missense variant	-	NC_000017.11:g.19357851T>C	TOPMed
rs765910751	p.Pro79Ser	missense variant	-	NC_000017.11:g.19357849G>A	ExAC,gnomAD
rs765910751	p.Pro79Ala	missense variant	-	NC_000017.11:g.19357849G>C	ExAC,gnomAD
rs919713893	p.Pro79Leu	missense variant	-	NC_000017.11:g.19357848G>A	TOPMed
rs766798349	p.Gly81Ser	missense variant	-	NC_000017.11:g.19357843C>T	ExAC,TOPMed,gnomAD
rs1157707688	p.Pro83Leu	missense variant	-	NC_000017.11:g.19347877G>A	gnomAD
rs769608300	p.Ile85Phe	missense variant	-	NC_000017.11:g.19347872T>A	ExAC,TOPMed,gnomAD
rs776537604	p.Val86Met	missense variant	-	NC_000017.11:g.19347869C>T	ExAC,TOPMed,gnomAD
rs776537604	p.Val86Leu	missense variant	-	NC_000017.11:g.19347869C>A	ExAC,TOPMed,gnomAD
rs777500443	p.Val89Met	missense variant	-	NC_000017.11:g.19347860C>T	ExAC,gnomAD
rs747596672	p.Tyr90Cys	missense variant	-	NC_000017.11:g.19347856T>C	ExAC,gnomAD
rs1238280587	p.Gly91Arg	missense variant	-	NC_000017.11:g.19347854C>T	gnomAD
rs1315959511	p.Val94Ala	missense variant	-	NC_000017.11:g.19347844A>G	gnomAD
rs373478202	p.Phe95Leu	missense variant	-	NC_000017.11:g.19347840G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000541544	p.Phe95Leu	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.19347840G>T	ClinVar
rs373478202	p.Phe95Leu	missense variant	-	NC_000017.11:g.19347840G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751788862	p.Gly96Arg	missense variant	-	NC_000017.11:g.19347839C>T	ExAC,TOPMed,gnomAD
rs751788862	p.Gly96Arg	missense variant	-	NC_000017.11:g.19347839C>G	ExAC,TOPMed,gnomAD
rs764245755	p.Asp98Tyr	missense variant	-	NC_000017.11:g.19347833C>A	ExAC,TOPMed,gnomAD
rs764245755	p.Asp98Asn	missense variant	-	NC_000017.11:g.19347833C>T	ExAC,TOPMed,gnomAD
rs1470992949	p.Val99Met	missense variant	-	NC_000017.11:g.19347830C>T	TOPMed
rs763153642	p.Val99Glu	missense variant	-	NC_000017.11:g.19347829A>T	ExAC,gnomAD
rs763153642	p.Val99Ala	missense variant	-	NC_000017.11:g.19347829A>G	ExAC,gnomAD
rs752718131	p.Arg101Ter	stop gained	-	NC_000017.11:g.19347824G>A	ExAC,TOPMed,gnomAD
rs752718131	p.Arg101Gly	missense variant	-	NC_000017.11:g.19347824G>C	ExAC,TOPMed,gnomAD
rs148240978	p.Arg101Gln	missense variant	-	NC_000017.11:g.19347823C>T	ESP,ExAC,TOPMed,gnomAD
rs1414382257	p.Tyr103Cys	missense variant	-	NC_000017.11:g.19347817T>C	TOPMed
rs759369800	p.Ala105Thr	missense variant	-	NC_000017.11:g.19347812C>T	ExAC,gnomAD
rs770853834	p.Val106Met	missense variant	-	NC_000017.11:g.19347809C>T	ExAC,TOPMed,gnomAD
rs773056053	p.Val108Met	missense variant	-	NC_000017.11:g.19347803C>T	ExAC,gnomAD
rs1377833011	p.Pro109Ser	missense variant	-	NC_000017.11:g.19347800G>A	TOPMed
rs778260923	p.Arg114Gln	missense variant	-	NC_000017.11:g.19347784C>T	ExAC,TOPMed,gnomAD
rs747731978	p.Arg114Trp	missense variant	-	NC_000017.11:g.19347785G>A	ExAC,gnomAD
rs748742792	p.His115Pro	missense variant	-	NC_000017.11:g.19347329T>G	ExAC,TOPMed,gnomAD
rs768052317	p.His115Tyr	missense variant	-	NC_000017.11:g.19347330G>A	ExAC,TOPMed,gnomAD
rs1430578855	p.Lys116Arg	missense variant	-	NC_000017.11:g.19347326T>C	gnomAD
rs777184376	p.Lys116Glu	missense variant	-	NC_000017.11:g.19347327T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg117GlyPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.19347324T>-	NCI-TCGA
rs997237718	p.Thr118Ser	missense variant	-	NC_000017.11:g.19347321T>A	TOPMed,gnomAD
rs1457371367	p.Met121Ile	missense variant	-	NC_000017.11:g.19347310C>T	gnomAD
rs1177935761	p.Met121Thr	missense variant	-	NC_000017.11:g.19347311A>G	gnomAD
NCI-TCGA novel	p.Phe122Cys	missense variant	-	NC_000017.11:g.19347308A>C	NCI-TCGA
rs1256190995	p.Phe122Ser	missense variant	-	NC_000017.11:g.19347308A>G	gnomAD
rs201299216	p.Ser126Thr	missense variant	-	NC_000017.11:g.19347297A>T	ESP,ExAC,TOPMed,gnomAD
RCV000243872	p.Ser126Thr	missense variant	-	NC_000017.11:g.19347297A>T	ClinVar
rs779138882	p.Thr127Met	missense variant	-	NC_000017.11:g.19347293G>A	ExAC,gnomAD
rs748349063	p.Thr127Ala	missense variant	-	NC_000017.11:g.19347294T>C	ExAC,TOPMed,gnomAD
rs1472421570	p.Ser128Phe	missense variant	-	NC_000017.11:g.19347290G>A	TOPMed
rs753961996	p.Lys129Glu	missense variant	-	NC_000017.11:g.19347288T>C	ExAC,gnomAD
rs1462645325	p.Gln131Ter	stop gained	-	NC_000017.11:g.19347282G>A	gnomAD
rs1159882758	p.Gln131Pro	missense variant	-	NC_000017.11:g.19347281T>G	TOPMed
rs201901019	p.Phe133Leu	missense variant	-	NC_000017.11:g.19347276A>G	ExAC,gnomAD
rs1360851757	p.Trp136Cys	missense variant	-	NC_000017.11:g.19343854C>G	gnomAD
rs1297229840	p.Phe137Leu	missense variant	-	NC_000017.11:g.19343853A>G	gnomAD
rs1366554009	p.Gly139Trp	missense variant	-	NC_000017.11:g.19343847C>A	TOPMed
rs1417423091	p.Arg140Trp	missense variant	-	NC_000017.11:g.19343844G>A	gnomAD
rs375256419	p.Arg140Gln	missense variant	-	NC_000017.11:g.19343843C>T	ESP,ExAC,TOPMed,gnomAD
rs752121172	p.Arg141Trp	missense variant	-	NC_000017.11:g.19343841G>A	ExAC,TOPMed,gnomAD
rs764681399	p.Arg141Gln	missense variant	-	NC_000017.11:g.19343840C>T	ExAC,TOPMed,gnomAD
rs1196401724	p.Pro142Ser	missense variant	-	NC_000017.11:g.19343838G>A	gnomAD
rs1490515097	p.Glu143Lys	missense variant	-	NC_000017.11:g.19343835C>T	gnomAD
rs765607415	p.Thr145Ile	missense variant	-	NC_000017.11:g.19343828G>A	ExAC,gnomAD
RCV000540095	p.Thr145Ile	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.19343828G>A	ClinVar
rs1221013952	p.Asp146Glu	missense variant	-	NC_000017.11:g.19343824G>C	gnomAD
rs759829351	p.Asp146Asn	missense variant	-	NC_000017.11:g.19343826C>T	ExAC,gnomAD
rs776679506	p.Pro147Ser	missense variant	-	NC_000017.11:g.19343823G>A	ExAC,gnomAD
rs771049549	p.Pro147Leu	missense variant	-	NC_000017.11:g.19343822G>A	ExAC,gnomAD
rs776679506	p.Pro147Ala	missense variant	-	NC_000017.11:g.19343823G>C	ExAC,gnomAD
rs773192535	p.Lys148Asn	missense variant	-	NC_000017.11:g.19343818C>A	ExAC,gnomAD
rs1340916417	p.Lys148Arg	missense variant	-	NC_000017.11:g.19343819T>C	gnomAD
rs1340916417	p.Lys148Thr	missense variant	-	NC_000017.11:g.19343819T>G	gnomAD
rs1397875662	p.Val150Met	missense variant	-	NC_000017.11:g.19343814C>T	TOPMed,gnomAD
rs771966098	p.Ala151Gly	missense variant	-	NC_000017.11:g.19343810G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala151Thr	missense variant	-	NC_000017.11:g.19343811C>T	NCI-TCGA
rs1456979116	p.Gln152Arg	missense variant	-	NC_000017.11:g.19343807T>C	TOPMed,gnomAD
rs372249324	p.Gly153Ser	missense variant	-	NC_000017.11:g.19343805C>T	ESP,ExAC,TOPMed,gnomAD
rs886038205	p.Arg156Gln	missense variant	-	NC_000017.11:g.19343795C>T	TOPMed,gnomAD
rs886038205	p.Arg156Gln	missense variant	Joubert syndrome 27 (JBTS27)	NC_000017.11:g.19343795C>T	UniProt,dbSNP
VAR_076975	p.Arg156Gln	missense variant	Joubert syndrome 27 (JBTS27)	NC_000017.11:g.19343795C>T	UniProt
rs369488112	p.Arg156Trp	missense variant	-	NC_000017.11:g.19343796G>A	ESP,ExAC,TOPMed,gnomAD
RCV000241544	p.Arg156Gln	missense variant	Joubert syndrome 27 (JBTS27)	NC_000017.11:g.19343795C>T	ClinVar
RCV000754944	p.Arg156Pro	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000017.11:g.19343795C>G	ClinVar
rs1169808869	p.Glu157Val	missense variant	-	NC_000017.11:g.19343792T>A	TOPMed
rs749945608	p.Glu157Asp	missense variant	-	NC_000017.11:g.19343791T>G	ExAC,TOPMed,gnomAD
rs146272049	p.Glu157Lys	missense variant	-	NC_000017.11:g.19343793C>T	ESP,ExAC,TOPMed,gnomAD
rs1406194956	p.Val158Gly	missense variant	-	NC_000017.11:g.19343461A>C	TOPMed
rs538949071	p.Arg160His	missense variant	-	NC_000017.11:g.19343455C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs182767811	p.Arg160Cys	missense variant	-	NC_000017.11:g.19343456G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757444799	p.Val161Ala	missense variant	-	NC_000017.11:g.19343452A>G	ExAC,gnomAD
rs142346405	p.Arg162His	missense variant	-	NC_000017.11:g.19343449C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1173992065	p.Arg162Cys	missense variant	-	NC_000017.11:g.19343450G>A	TOPMed,gnomAD
rs1394069896	p.Ser163Phe	missense variant	-	NC_000017.11:g.19343446G>A	gnomAD
rs1057522520	p.Gly165Cys	missense variant	-	NC_000017.11:g.19343441C>A	-
rs1191282778	p.Gly165Asp	missense variant	-	NC_000017.11:g.19343440C>T	gnomAD
RCV000427074	p.Gly165Cys	missense variant	-	NC_000017.11:g.19343441C>A	ClinVar
rs764112875	p.Leu169Val	missense variant	-	NC_000017.11:g.19343429G>C	ExAC,gnomAD
rs752593719	p.Leu170Phe	missense variant	-	NC_000017.11:g.19343426G>A	ExAC,gnomAD
rs765253677	p.Asn172Ser	missense variant	-	NC_000017.11:g.19343419T>C	ExAC,gnomAD
rs776537748	p.Val173Met	missense variant	-	NC_000017.11:g.19343417C>T	ExAC,TOPMed,gnomAD
VAR_076976	p.Val174del	inframe_deletion	Joubert syndrome 27 (JBTS27) [MIM:617120]	-	UniProt
rs766184795	p.Lys176Met	missense variant	-	NC_000017.11:g.19343407T>A	ExAC,gnomAD
rs1309922077	p.Asp177Asn	missense variant	-	NC_000017.11:g.19343405C>T	gnomAD
rs1309922077	p.Asp177Tyr	missense variant	-	NC_000017.11:g.19343405C>A	gnomAD
rs760275062	p.Asp177Gly	missense variant	-	NC_000017.11:g.19343404T>C	ExAC,gnomAD
rs939940954	p.Met178Ile	missense variant	-	NC_000017.11:g.19343400C>T	gnomAD
NCI-TCGA novel	p.Arg179SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.19343399_19343400insGA	NCI-TCGA
rs772851974	p.Arg179Thr	missense variant	-	NC_000017.11:g.19343398C>G	ExAC,gnomAD
rs1205435550	p.Lys180Glu	missense variant	-	NC_000017.11:g.19343396T>C	TOPMed
NCI-TCGA novel	p.Lys180Thr	missense variant	-	NC_000017.11:g.19343395T>G	NCI-TCGA
rs771494755	p.Leu181Pro	missense variant	-	NC_000017.11:g.19343392A>G	ExAC,TOPMed,gnomAD
rs1374536607	p.Tyr183Cys	missense variant	-	NC_000017.11:g.19343386T>C	gnomAD
rs747677339	p.Asp184Asn	missense variant	-	NC_000017.11:g.19343384C>T	ExAC,TOPMed,gnomAD
rs1441010335	p.Asp184Val	missense variant	-	NC_000017.11:g.19343383T>A	gnomAD
rs1380337231	p.Thr185Ala	missense variant	-	NC_000017.11:g.19343381T>C	TOPMed,gnomAD
rs969720058	p.Pro187Ser	missense variant	-	NC_000017.11:g.19343375G>A	TOPMed,gnomAD
COSM4834214	p.Asp189His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.19343369C>G	NCI-TCGA Cosmic
rs147684440	p.Thr190Ser	missense variant	-	NC_000017.11:g.19343366T>A	ESP,ExAC,TOPMed,gnomAD
rs150434901	p.Thr190Arg	missense variant	-	NC_000017.11:g.19343365G>C	ESP,ExAC
rs1355797261	p.Gln191Lys	missense variant	-	NC_000017.11:g.19343363G>T	TOPMed,gnomAD
rs781561961	p.Gln191Pro	missense variant	-	NC_000017.11:g.19343362T>G	ExAC,gnomAD
rs757604145	p.Gly192Ala	missense variant	-	NC_000017.11:g.19343359C>G	ExAC,gnomAD
rs530321513	p.Val193Met	missense variant	-	NC_000017.11:g.19343357C>T	1000Genomes,ExAC,gnomAD
rs1413903438	p.Gly195Arg	missense variant	-	NC_000017.11:g.19343351C>T	gnomAD
rs758466581	p.Gly195Val	missense variant	-	NC_000017.11:g.19343350C>A	ExAC,gnomAD
rs752818836	p.Pro196Leu	missense variant	-	NC_000017.11:g.19343347G>A	ExAC,gnomAD
rs1015745292	p.Pro199Ser	missense variant	-	NC_000017.11:g.19343339G>A	TOPMed
rs754944872	p.Pro199Leu	missense variant	-	NC_000017.11:g.19343338G>A	ExAC,gnomAD
rs1448501037	p.Gln200Pro	missense variant	-	NC_000017.11:g.19343335T>G	gnomAD
NCI-TCGA novel	p.Gln200His	missense variant	-	NC_000017.11:g.19343334C>A	NCI-TCGA
rs1310730602	p.Ser201Asn	missense variant	-	NC_000017.11:g.19343332C>T	gnomAD
rs547869203	p.Ser201Arg	missense variant	-	NC_000017.11:g.19343331G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1399095814	p.Pro203Arg	missense variant	-	NC_000017.11:g.19343326G>C	TOPMed
rs772797594	p.Gln204His	missense variant	-	NC_000017.11:g.19343322C>A	ExAC,gnomAD
rs997262238	p.Gln204Arg	missense variant	-	NC_000017.11:g.19343323T>C	TOPMed,gnomAD
rs201498591	p.Ter205Arg	stop lost	-	NC_000017.11:g.19343321A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201498591	p.Ter205Gly	stop lost	-	NC_000017.11:g.19343321A>C	1000Genomes,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003578	Apnea	phenotype	HPO
C0007758	Cerebellar Ataxia	phenotype	HPO
C0009081	Congenital clubfoot	disease	HPO
C0009714	Hepatic Fibrosis, Congenital	disease	HPO
C0010417	Cryptorchidism	disease	HPO
C0014065	Congenital cerebral hernia	disease	HPO
C0014067	Occipital Encephalocele	disease	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	HPO
C0026010	Microphthalmos	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0028738	Nystagmus	disease	HPO
C0029124	Optic Atrophy	disease	HPO
C0036341	Schizophrenia	disease	GWASCAT
C0079924	Oligohydramnios	phenotype	HPO
C0086543	Cataract	disease	HPO
C0152427	Polydactyly	disease	BEFREE;GENOMICS_ENGLAND
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0239399	Short extremities	phenotype	HPO
C0265215	Meckel-Gruber syndrome	disease	BEFREE;ORPHANET
C0266362	Ambiguous Genitalia	disease	HPO
C0266544	Microcornea	disease	HPO
C0311245	Congenital cystic kidney disease	disease	MGD
C0392514	Hereditary hemochromatosis	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0431362	Lobar Holoprosencephaly	disease	HPO
C0431399	Familial aplasia of the vermis	disease	CLINVAR;ORPHANET
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0557874	Global developmental delay	disease	HPO
C0575081	Gait abnormality	group	HPO
C0917816	Mental deficiency	disease	HPO
C1167713	Decreased corneal diameter	phenotype	HPO
C1301937	Talipes	disease	HPO
C1510497	Lens Opacities	phenotype	HPO
C1836047	Long face	phenotype	HPO
C1840379	Cerebellar vermis hypoplasia	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1853235	Sclerocornea	disease	HPO
C1854418	Biparietal narrowing	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1857679	Sloping forehead	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865060	Molar tooth sign on MRI	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C2112129	Postaxial foot polydactyly	disease	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	HPO
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3280155	MECKEL SYNDROME, TYPE 9	disease	CLINVAR
C3280768	Abnormality of the posterior cranial fossa	phenotype	HPO
C3489733	Oculomotor apraxia	disease	HPO
C3550658	Maternal oligohydramnios	phenotype	HPO
C3552713	Talipes foot deformities	phenotype	HPO
C3714506	Meckel syndrome type 1	disease	BEFREE
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806218	Episodic tachypnea	phenotype	HPO
C3806443	Puffy cheeks	phenotype	HPO
C4020865	Fibular polydactyly	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020886	Defective or absent horizontal voluntary eye movements	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024748	Aplasia/Hypoplasia of the iris	phenotype	HPO
C4025844	Chorioretinal abnormality	phenotype	HPO
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND
C4280532	Decreased width of the skull	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4310706	JOUBERT SYNDROME 27	disease	CLINVAR;UNIPROT
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0008158	hedgehog receptor activity	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001701	in utero embryonic development	IEA
GO:0001944	vasculature development	IEA
GO:0007224	smoothened signaling pathway	ISS
GO:0032880	regulation of protein localization	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0043010	camera-type eye development	IEA
GO:0060271	cilium assembly	ISS
GO:0060563	neuroepithelial cell differentiation	IEA
GO:0097711	ciliary basal body-plasma membrane docking	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005813	centrosome	IDA
GO:0005829	cytosol	TAS
GO:0016020	membrane	IEA
GO:0035869	ciliary transition zone	ISS
GO:0036038	MKS complex	ISS
GO:0036064	ciliary basal body	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620912	Anchoring of the basal body to the plasma membrane	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of B9D1 mRNA	25380136
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of B9D1 mRNA	18648102
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of B9D1 mRNA	25380136
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide 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 B9D1 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 p-Chloromercuribenzoic 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 B9D1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of B9D1 mRNA	27188386
D000082	Acetaminophen	Acetaminophen affects the expression of B9D1 mRNA	25064622
D000082	Acetaminophen	Acetaminophen affects the expression of B9D1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of B9D1 polyA tail	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of B9D1 polyA tail	30157460
D000638	Amiodarone	Amiodarone affects the expression of B9D1 mRNA	25064622
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of B9D1 polyA tail	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of B9D1 mRNA	20106945
C006780	bisphenol A	bisphenol A affects the expression of B9D1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of B9D1 mRNA	30248606
C006780	bisphenol A	bisphenol A results in decreased expression of B9D1 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of B9D1 gene	28505145
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of B9D1 mRNA	23650126
D002746	Chlorpromazine	Chlorpromazine affects the expression of B9D1 mRNA	25064622
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of B9D1 mRNA	20938992
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of B9D1 mRNA	19376846
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of B9D1 mRNA	19549813
D016572	Cyclosporine	Cyclosporine affects the expression of B9D1 mRNA	25064622
D016572	Cyclosporine	Cyclosporine results in decreased expression of B9D1 mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in decreased methylation of B9D1 promoter	27989131
D016572	Cyclosporine	Cyclosporine results in increased expression of B9D1 mRNA	20106945; 27989131;
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide 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 B9D1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic 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 B9D1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of B9D1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of B9D1 mRNA	29803840
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of B9D1 mRNA	25064622
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of B9D1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of B9D1 mRNA	17942748
D017313	Fenretinide	Fenretinide results in increased expression of B9D1 mRNA	28973697
D005485	Flutamide	Flutamide results in increased expression of B9D1 mRNA	21126777
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of B9D1 mRNA	20938992
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in decreased expression of B9D1 mRNA	17183730
C492448	ICG 001	ICG 001 results in increased expression of B9D1 mRNA	26191083
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of B9D1 mRNA	21396975
C544151	jinfukang	jinfukang results in increased expression of B9D1 mRNA	27392435
D000077339	Leflunomide	Leflunomide results in decreased expression of B9D1 mRNA	28988120
C042720	mercuric bromide	mercuric bromide results in decreased expression of B9D1 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide 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 B9D1 mRNA	27188386
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of B9D1 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of B9D1 mRNA	23179753; 27188386; 28001369;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of B9D1 mRNA	25554681
C031721	naphthalene	naphthalene results in increased expression of B9D1 mRNA	18978301
D010269	Paraquat	Paraquat affects the expression of B9D1 mRNA	25064622
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic 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 B9D1 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of B9D1 mRNA	26272509
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 B9D1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of B9D1 mRNA	26272509
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of B9D1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of B9D1 mRNA	17942748
D013752	Tetracycline	Tetracycline affects the expression of B9D1 mRNA	25064622
D013853	Thioacetamide	Thioacetamide affects the expression of B9D1 mRNA	25064622
D013893	Thiram	Thiram results in increased expression of B9D1 mRNA	20530235
C009495	titanium dioxide	titanium dioxide results in decreased expression of B9D1 mRNA	23557971
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of B9D1 mRNA	26179874
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of B9D1 mRNA	29024780
D000077288	Troglitazone	Troglitazone results in increased expression of B9D1 mRNA	28973697
D014415	Tunicamycin	Tunicamycin results in increased expression of B9D1 mRNA	29453283
D014520	Urethane	Urethane results in decreased expression of B9D1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of B9D1 mRNA	25064622
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in decreased expression of B9D1 mRNA	17183730
D014635	Valproic Acid	Valproic Acid affects the expression of B9D1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of B9D1 mRNA	23179753; 27188386; 28001369;
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of B9D1 gene	25560391
C025643	vinclozolin	vinclozolin results in decreased expression of B9D1 mRNA	23555832
D000077337	Vorinostat	Vorinostat results in increased expression of B9D1 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0979	Joubert syndrome
KW-0981	Meckel syndrome
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR010796	B9_dom

PROSITE

PROSITE ID	PROSITE Term
PS51381	C2_B9

Pfam

Pfam ID	Pfam Term
PF07162	B9-C2

Gene: B9D1

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

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