CleftGeneDB-Search

Gene: EFNB1

Basic information

Tag	Content
Uniprot ID	P98172; D3DVU0;
Entrez ID	1947
Genbank protein ID	AAB41127.1; AAA52369.1; AAH52979.1; AAA53093.1; EAX05371.1; AAH16649.1; EAX05370.1;
Genbank nucleotide ID	NM_004429.4
Ensembl protein ID	ENSP00000204961
Ensembl nucleotide ID	ENSG00000090776
Gene name	Ephrin-B1
Gene symbol	EFNB1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	15959873; 15166289;
Functional description	Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:8070404, PubMed:7973638). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:8070404, PubMed:7973638). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:8070404, PubMed:7973638). Can also bind EPHB2 and EPHB3 (PubMed:8070404). Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons (By similarity).
Sequence	MARPGQRWLG KWLVAMVVWA LCRLATPLAK NLEPVSWSSL NPKFLSGKGL VIYPKIGDKL 60 DIICPRAEAG RPYEYYKLYL VRPEQAAACS TVLDPNVLVT CNRPEQEIRF TIKFQEFSPN 120 YMGLEFKKHH DYYITSTSNG SLEGLENREG GVCRTRTMKI IMKVGQDPNA VTPEQLTTSR 180 PSKEADNTVK MATQAPGSRG SLGDSDGKHE TVNQEEKSGP GASGGSSGDP DGFFNSKVAL 240 FAAVGAGCVI FLLIIIFLTV LLLKLRKRHR KHTQQRAAAL SLSTLASPKG GSGTAGTEPS 300 DIIIPLRTTE NNYCPHYEKV SGDYGHPVYI VQEMPPQSPA NIYYKV 346

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	EFNB1	534413	A1L570			Bos taurus	Prediction	More>>
1:1 ortholog	EFNB1	607410	E2QSB5			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EFNB1	102183496	A0A452DVX4			Capra hircus	Prediction	More>>
1:1 ortholog	EFNB1	1947	P98172	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Efnb1	13641	P52795	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	EFNB1	473651	K7APG7			Pan troglodytes	Prediction	More>>
1:1 ortholog	EFNB1		A0A287BK49			Sus scrofa	Prediction	More>>
1:1 ortholog	Efnb1	25186	Q6P7B6			Rattus norvegicus	Prediction	More>>
1:1 ortholog	efnb1	114377	Q90Z33			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
EFNB1	1A>G; 57G>A; 185T>C; 196C>T; 246delG; 293T>C; 344A>C; 355C>A; 356C>A; 406+1G>A; 407-1G>A; 451G>A; 452G>T; 463A>C; 472A>G; 474G>T; 629-2A>G	PCR	15166289
EFNB1	c.443_444delGG; p.N147fs*173	PCR and sequencing	15959873
EFNB1	c.258_261dupAGCT; p.A87fs*91	PCR and sequencing	15959873

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1301370944	p.Ala2Pro	missense variant	-	NC_000023.11:g.68829780G>C	TOPMed,gnomAD
rs1301370944	p.Ala2Thr	missense variant	-	NC_000023.11:g.68829780G>A	TOPMed,gnomAD
rs748401151	p.Ala2Val	missense variant	-	NC_000023.11:g.68829781C>T	ExAC,gnomAD
rs772228172	p.Arg3Trp	missense variant	-	NC_000023.11:g.68829783C>T	ExAC,TOPMed,gnomAD
rs373904459	p.Arg3Pro	missense variant	-	NC_000023.11:g.68829784G>C	ESP,ExAC,TOPMed,gnomAD
rs925572507	p.Pro4Ser	missense variant	-	NC_000023.11:g.68829786C>T	TOPMed,gnomAD
rs866037171	p.Arg7His	missense variant	-	NC_000023.11:g.68829796G>A	TOPMed,gnomAD
rs866037171	p.Arg7Leu	missense variant	-	NC_000023.11:g.68829796G>T	TOPMed,gnomAD
rs1317038004	p.Arg7Cys	missense variant	-	NC_000023.11:g.68829795C>T	gnomAD
rs866889834	p.Gly10Ala	missense variant	-	NC_000023.11:g.68829805G>C	gnomAD
rs866889834	p.Gly10Asp	missense variant	-	NC_000023.11:g.68829805G>A	gnomAD
rs1482772814	p.Trp12Ter	stop gained	-	NC_000023.11:g.68829811G>A	gnomAD
rs760050554	p.Val14Leu	missense variant	-	NC_000023.11:g.68829816G>T	ExAC,gnomAD
rs1181430849	p.Trp19Ter	stop gained	-	NC_000023.11:g.68829833G>A	gnomAD
NCI-TCGA novel	p.Ala20Val	missense variant	-	chrX:g.68829835C>T	NCI-TCGA
rs763647626	p.Ala20Ser	missense variant	-	NC_000023.11:g.68829834G>T	ExAC,gnomAD
rs1174138217	p.Arg23Gly	missense variant	-	NC_000023.11:g.68829843C>G	gnomAD
rs759194644	p.Leu24Phe	missense variant	-	NC_000023.11:g.68829846C>T	1000Genomes,ExAC,gnomAD
rs1315222017	p.Ala25Pro	missense variant	-	NC_000023.11:g.68829849G>C	gnomAD
VAR_023127	p.Pro27Arg	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
RCV000340660	p.Ala29Ter	frameshift	-	NC_000023.11:g.68829861dup	ClinVar
rs767027730	p.Ala29Ser	missense variant	-	NC_000023.11:g.68829861G>T	ExAC,gnomAD
rs750127847	p.Glu33Asp	missense variant	-	NC_000023.11:g.68829875G>T	ExAC,gnomAD
rs1373344087	p.Pro34Ser	missense variant	-	NC_000023.11:g.68829876C>T	gnomAD
rs1044255052	p.Val35Ile	missense variant	-	NC_000023.11:g.68829879G>A	gnomAD
RCV000012480	p.Trp37Ter	nonsense	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68829886G>A	ClinVar
RCV000012479	p.Trp37Gly	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68829885T>G	ClinVar
rs104894802	p.Trp37Gly	missense variant	-	NC_000023.11:g.68829885T>G	-
rs104894803	p.Trp37Ter	stop gained	-	NC_000023.11:g.68829886G>A	-
RCV000224501	p.Ser39Ter	frameshift	-	NC_000023.11:g.68829877_68829890dup	ClinVar
rs1311286566	p.Ser39Tyr	missense variant	-	NC_000023.11:g.68829892C>A	gnomAD
rs1281054425	p.Leu40Phe	missense variant	-	NC_000023.11:g.68829894C>T	TOPMed
rs1375248219	p.Lys43Asn	missense variant	-	NC_000023.11:g.68838617G>T	gnomAD
rs1556105849	p.Phe44Ser	missense variant	-	NC_000023.11:g.68838619T>C	-
RCV000503680	p.Phe44Ser	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838619T>C	ClinVar
RCV000622395	p.Lys48Ter	nonsense	Inborn genetic diseases	NC_000023.11:g.68838630A>T	ClinVar
rs1556105875	p.Lys48Ter	stop gained	-	NC_000023.11:g.68838630A>T	-
rs104894801	p.Pro54Leu	missense variant	-	chrX:g.68838649C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000012474	p.Pro54Leu	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838649C>T	ClinVar
RCV000523021	p.Pro54Arg	missense variant	-	NC_000023.11:g.68838649C>G	ClinVar
RCV000478350	p.Pro54Leu	missense variant	-	NC_000023.11:g.68838649C>T	ClinVar
rs104894801	p.Pro54Leu	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68838649C>T	UniProt,dbSNP
VAR_023128	p.Pro54Leu	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68838649C>T	UniProt
rs104894801	p.Pro54Leu	missense variant	-	NC_000023.11:g.68838649C>T	ExAC
rs104894801	p.Pro54Arg	missense variant	-	NC_000023.11:g.68838649C>G	ExAC
rs104894801	p.Pro54Gln	missense variant	-	NC_000023.11:g.68838649C>A	ExAC
rs771228253	p.Lys55Arg	missense variant	-	NC_000023.11:g.68838652A>G	ExAC,gnomAD
RCV000193305	p.Lys59Gln	missense variant	-	NC_000023.11:g.68838663A>C	ClinVar
rs797045549	p.Lys59Gln	missense variant	-	NC_000023.11:g.68838663A>C	-
VAR_023129	p.Ile62Thr	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
rs748103349	p.Arg66Gln	missense variant	-	chrX:g.68838685G>A	NCI-TCGA
RCV000012481	p.Arg66Ter	nonsense	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838684C>T	ClinVar
RCV000224877	p.Arg66Ter	nonsense	-	NC_000023.11:g.68838684C>T	ClinVar
rs104894804	p.Arg66Ter	stop gained	-	NC_000023.11:g.68838684C>T	-
rs748103349	p.Arg66Gln	missense variant	-	NC_000023.11:g.68838685G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu68Lys	missense variant	-	chrX:g.68838690G>A	NCI-TCGA
rs776085390	p.Ala69Val	missense variant	-	NC_000023.11:g.68838694C>T	ExAC,gnomAD
rs765712163	p.Ala69Thr	missense variant	-	NC_000023.11:g.68838693G>A	ExAC,gnomAD
rs367996552	p.Arg71Trp	missense variant	-	chrX:g.68838699C>T	NCI-TCGA,NCI-TCGA Cosmic
rs767055938	p.Arg71Gln	missense variant	-	chrX:g.68838700G>A	NCI-TCGA
rs367996552	p.Arg71Trp	missense variant	-	NC_000023.11:g.68838699C>T	ESP,ExAC,TOPMed,gnomAD
rs767055938	p.Arg71Gln	missense variant	-	NC_000023.11:g.68838700G>A	ExAC,TOPMed,gnomAD
COSM757757	p.Pro72His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68838703C>A	NCI-TCGA Cosmic
RCV000326061	p.Tyr73Ter	nonsense	-	NC_000023.11:g.68838707T>G	ClinVar
rs886041800	p.Tyr73Ter	stop gained	-	NC_000023.11:g.68838707T>G	-
rs1195726156	p.Leu78Val	missense variant	-	NC_000023.11:g.68838720C>G	gnomAD
rs1187504267	p.Arg82Trp	missense variant	-	NC_000023.11:g.68838732C>T	gnomAD
rs370637906	p.Arg82Gln	missense variant	-	NC_000023.11:g.68838733G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg82Pro	missense variant	-	chrX:g.68838733G>C	NCI-TCGA
NCI-TCGA novel	p.Ala87Val	missense variant	-	chrX:g.68838748C>T	NCI-TCGA
rs143648191	p.Ala88Thr	missense variant	-	NC_000023.11:g.68838750G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000415505	p.Thr91Pro	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838759A>C	ClinVar
rs1057519032	p.Thr91Pro	missense variant	-	NC_000023.11:g.68838759A>C	-
rs1164769308	p.Val92Ile	missense variant	-	NC_000023.11:g.68838762G>A	gnomAD
rs1245010559	p.Leu93Val	missense variant	-	NC_000023.11:g.68838765C>G	TOPMed
NCI-TCGA novel	p.Leu93Ile	missense variant	-	chrX:g.68838765C>A	NCI-TCGA
rs778669520	p.Asp94Asn	missense variant	-	chrX:g.68838768G>A	NCI-TCGA
rs778669520	p.Asp94Asn	missense variant	-	NC_000023.11:g.68838768G>A	ExAC,TOPMed,gnomAD
rs1362605865	p.Asn96Lys	missense variant	-	NC_000023.11:g.68838776C>A	gnomAD
COSM4680340	p.Val97Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68838777G>A	NCI-TCGA Cosmic
VAR_023130	p.Leu98Ser	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
NCI-TCGA novel	p.Val99Ala	missense variant	-	chrX:g.68838784T>C	NCI-TCGA
rs758345370	p.Val99Ile	missense variant	-	NC_000023.11:g.68838783G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro104Gln	missense variant	-	chrX:g.68838799C>A	NCI-TCGA
rs978792532	p.Ile108Leu	missense variant	-	NC_000023.11:g.68838810A>C	TOPMed
COSM3786766	p.Arg109Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68838813C>T	NCI-TCGA Cosmic
rs1556106222	p.Arg109Gly	missense variant	-	NC_000023.11:g.68838813C>G	-
rs747219481	p.Arg109His	missense variant	-	NC_000023.11:g.68838814G>A	ExAC,gnomAD
RCV000622267	p.Arg109Gly	missense variant	Inborn genetic diseases	NC_000023.11:g.68838813C>G	ClinVar
rs1266806148	p.Phe110Leu	missense variant	-	NC_000023.11:g.68838816T>C	TOPMed,gnomAD
RCV000012473	p.Thr111Ile	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838820C>T	ClinVar
rs104894796	p.Thr111Ile	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68838820C>T	UniProt,dbSNP
VAR_023131	p.Thr111Ile	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68838820C>T	UniProt
rs104894796	p.Thr111Ile	missense variant	-	NC_000023.11:g.68838820C>T	-
VAR_023132	p.Gln115Pro	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
VAR_023133	p.Pro119His	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
VAR_023135	p.Pro119Thr	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
VAR_023134	p.Pro119Ser	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
RCV000519575	p.Met122Thr	missense variant	-	NC_000023.11:g.68838853T>C	ClinVar
rs1556106318	p.Met122Thr	missense variant	-	NC_000023.11:g.68838853T>C	-
rs1244183650	p.His130Arg	missense variant	-	NC_000023.11:g.68838877A>G	TOPMed,gnomAD
rs770225645	p.Asp131Asn	missense variant	-	NC_000023.11:g.68838879G>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr133Ter	stop gained	-	chrX:g.68838887C>A	NCI-TCGA
RCV000415481	p.Ser136Leu	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839664C>T	ClinVar
rs1057519033	p.Ser136Leu	missense variant	-	NC_000023.11:g.68839664C>T	-
VAR_023136	p.Thr137Ala	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
VAR_023137	p.Ser138Phe	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
rs148094474	p.Asn139Ile	missense variant	-	NC_000023.11:g.68839673A>T	ESP,ExAC,gnomAD
rs148094474	p.Asn139Ser	missense variant	-	NC_000023.11:g.68839673A>G	ESP,ExAC,gnomAD
rs142430452	p.Ser141Thr	missense variant	-	NC_000023.11:g.68839679G>C	ESP,ExAC,TOPMed,gnomAD
rs748061613	p.Leu142Pro	missense variant	-	NC_000023.11:g.68839682T>C	1000Genomes,ExAC,gnomAD
COSM3562907	p.Glu146Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839693G>A	NCI-TCGA Cosmic
COSM1124293	p.Arg148Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839700G>A	NCI-TCGA Cosmic
rs780521355	p.Arg148Trp	missense variant	-	NC_000023.11:g.68839699C>T	ExAC,gnomAD
rs1281462803	p.Gly150Asp	missense variant	-	NC_000023.11:g.68839706G>A	gnomAD
RCV000012476	p.Gly151Val	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839709G>T	ClinVar
rs28936069	p.Gly151Ser	missense variant	-	chrX:g.68839708G>A	NCI-TCGA
RCV000012475	p.Gly151Ser	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839708G>A	ClinVar
rs28936069	p.Gly151Ser	missense variant	-	NC_000023.11:g.68839708G>A	-
rs28936070	p.Gly151Val	missense variant	-	NC_000023.11:g.68839709G>T	-
VAR_023140	p.Cys153Ser	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
VAR_023141	p.Cys153Tyr	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
rs146636295	p.Arg154His	missense variant	-	NC_000023.11:g.68839718G>A	UniProt,dbSNP
VAR_023142	p.Arg154His	missense variant	-	NC_000023.11:g.68839718G>A	UniProt
rs146636295	p.Arg154His	missense variant	-	NC_000023.11:g.68839718G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg154Cys	missense variant	-	chrX:g.68839717C>T	NCI-TCGA
COSM1124294	p.Thr155Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839721C>G	NCI-TCGA Cosmic
rs931712091	p.Thr155Ser	missense variant	-	NC_000023.11:g.68839720A>T	TOPMed
VAR_023143	p.Thr155Pro	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
NCI-TCGA novel	p.Arg156Pro	missense variant	-	chrX:g.68839724G>C	NCI-TCGA
RCV000415493	p.Arg156Cys	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839723C>T	ClinVar
COSM6119275	p.Arg156Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839723C>A	NCI-TCGA Cosmic
COSM1331734	p.Arg156His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839724G>A	NCI-TCGA Cosmic
rs1057519034	p.Arg156Cys	missense variant	-	NC_000023.11:g.68839723C>T	gnomAD
RCV000012478	p.Met158Ile	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839731G>T	ClinVar
RCV000012477	p.Met158Val	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839729A>G	ClinVar
rs28936071	p.Met158Leu	missense variant	-	NC_000023.11:g.68839729A>C	TOPMed
rs28935170	p.Met158Ile	missense variant	-	NC_000023.11:g.68839731G>T	-
rs28935170	p.Met158Ile	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68839731G>T	UniProt,dbSNP
VAR_023144	p.Met158Ile	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68839731G>T	UniProt
rs28936071	p.Met158Val	missense variant	-	NC_000023.11:g.68839729A>G	TOPMed
rs772828931	p.Lys159Arg	missense variant	-	NC_000023.11:g.68839733A>G	ExAC,gnomAD
rs1436665759	p.Ile160Val	missense variant	-	NC_000023.11:g.68839735A>G	gnomAD
RCV000087027	p.Gln166Ter	nonsense	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839753C>T	ClinVar
rs587777109	p.Gln166Ter	stop gained	-	NC_000023.11:g.68839753C>T	-
rs959897469	p.Asn169Ser	missense variant	-	NC_000023.11:g.68839966A>G	TOPMed
rs1274482805	p.Asn169His	missense variant	-	NC_000023.11:g.68839965A>C	gnomAD
RCV000444789	p.Ala170Val	missense variant	-	NC_000023.11:g.68839969C>T	ClinVar
rs147599832	p.Ala170Val	missense variant	-	NC_000023.11:g.68839969C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779526112	p.Val171Leu	missense variant	-	NC_000023.11:g.68839971G>C	ExAC,TOPMed,gnomAD
rs779526112	p.Val171Met	missense variant	-	NC_000023.11:g.68839971G>A	ExAC,TOPMed,gnomAD
rs7889678	p.Thr172Met	missense variant	-	NC_000023.11:g.68839975C>T	ExAC,gnomAD
rs1556107856	p.Gln175Ter	stop gained	-	NC_000023.11:g.68839983C>T	-
RCV000502264	p.Gln175Ter	nonsense	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839983C>T	ClinVar
rs762345929	p.Leu176Val	missense variant	-	NC_000023.11:g.68839986C>G	1000Genomes,ExAC,gnomAD
rs143162125	p.Arg180Ser	missense variant	-	NC_000023.11:g.68840000G>T	ESP,ExAC,TOPMed,gnomAD
rs767884649	p.Ser182Gly	missense variant	-	NC_000023.11:g.68840004A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser182Arg	missense variant	-	chrX:g.68840006C>A	NCI-TCGA
VAR_023146	p.Ser182Arg	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
rs762694943	p.Lys183Asn	missense variant	-	NC_000023.11:g.68840009G>T	ExAC,gnomAD
RCV000415511	p.Asn187Ter	frameshift	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68840021del	ClinVar
rs763881049	p.Asn187Ser	missense variant	-	NC_000023.11:g.68840020A>G	ExAC,gnomAD
RCV000415485	p.Val189Ala	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68840026T>C	ClinVar
rs150883256	p.Val189Ile	missense variant	-	NC_000023.11:g.68840025G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs16989105	p.Val189Ala	missense variant	-	NC_000023.11:g.68840026T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM280736	p.Ala192Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840035C>T	NCI-TCGA Cosmic
rs1486924849	p.Thr193Ile	missense variant	-	NC_000023.11:g.68840038C>T	TOPMed
COSM757754	p.Ala195Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840043G>T	NCI-TCGA Cosmic
rs974195266	p.Ala195Asp	missense variant	-	NC_000023.11:g.68840044C>A	TOPMed
rs546056194	p.Arg199Trp	missense variant	-	chrX:g.68840055C>T	NCI-TCGA,NCI-TCGA Cosmic
rs546056194	p.Arg199Trp	missense variant	-	NC_000023.11:g.68840055C>T	TOPMed,gnomAD
rs1295277661	p.Arg199Gln	missense variant	-	NC_000023.11:g.68840056G>A	gnomAD
rs1230258197	p.Gly200Ser	missense variant	-	NC_000023.11:g.68840058G>A	gnomAD
rs149648624	p.Gly200Ala	missense variant	-	NC_000023.11:g.68840059G>C	ESP
NCI-TCGA novel	p.Leu202TrpPheSerTerUnkUnk	frameshift	-	chrX:g.68840062C>-	NCI-TCGA
rs766918704	p.Gly203Val	missense variant	-	NC_000023.11:g.68840068G>T	1000Genomes,ExAC,gnomAD
rs756265628	p.Asp206His	missense variant	-	NC_000023.11:g.68840076G>C	ExAC,TOPMed,gnomAD
rs1225271532	p.Asp206Gly	missense variant	-	NC_000023.11:g.68840077A>G	TOPMed
rs754048678	p.Gly207Ser	missense variant	-	NC_000023.11:g.68840079G>A	1000Genomes,ExAC
NCI-TCGA novel	p.Gly207Asp	missense variant	-	chrX:g.68840080G>A	NCI-TCGA
RCV000760830	p.Gln214Ter	nonsense	-	NC_000023.11:g.68840253C>T	ClinVar
rs768426785	p.Glu215Lys	missense variant	-	NC_000023.11:g.68840256G>A	ExAC
rs772092082	p.Gly221Val	missense variant	-	NC_000023.11:g.68840275G>T	ExAC
rs1332721196	p.Ala222Val	missense variant	-	NC_000023.11:g.68840278C>T	gnomAD
rs1287553334	p.Gly224Arg	missense variant	-	NC_000023.11:g.68840283G>C	TOPMed
rs766378296	p.Gly228Arg	missense variant	-	NC_000023.11:g.68840295G>A	ExAC,gnomAD
rs139138728	p.Asp229Tyr	missense variant	-	NC_000023.11:g.68840298G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp229ThrPheSerTerUnkUnk	frameshift	-	chrX:g.68840295G>-	NCI-TCGA
COSM1315642	p.Pro230Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840302C>T	NCI-TCGA Cosmic
rs1236422765	p.Pro230Ala	missense variant	-	NC_000023.11:g.68840301C>G	gnomAD
rs1259786723	p.Asp231Asn	missense variant	-	NC_000023.11:g.68840304G>A	gnomAD
rs1291294998	p.Gly232Asp	missense variant	-	NC_000023.11:g.68840308G>A	TOPMed
NCI-TCGA novel	p.Phe233Leu	missense variant	-	chrX:g.68840312C>A	NCI-TCGA
rs369393911	p.Asn235Thr	missense variant	-	NC_000023.11:g.68840317A>C	ESP,ExAC,TOPMed,gnomAD
COSM1469019	p.Ser236CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.68840320_68840327CCAAGGTG>-	NCI-TCGA Cosmic
rs753155032	p.Ser236Ala	missense variant	-	NC_000023.11:g.68840319T>G	ExAC,TOPMed,gnomAD
rs1485291517	p.Val238Leu	missense variant	-	NC_000023.11:g.68840325G>T	gnomAD
rs758811344	p.Ala239Thr	missense variant	-	NC_000023.11:g.68840328G>A	ExAC
rs778301964	p.Phe241Leu	missense variant	-	NC_000023.11:g.68840336C>G	ExAC,gnomAD
rs755591908	p.Ala242Ser	missense variant	-	NC_000023.11:g.68840337G>T	ExAC,TOPMed
rs755591908	p.Ala242Thr	missense variant	-	chrX:g.68840337G>A	NCI-TCGA,NCI-TCGA Cosmic
rs755591908	p.Ala242Thr	missense variant	-	NC_000023.11:g.68840337G>A	ExAC,TOPMed
rs779487954	p.Ala242Val	missense variant	-	NC_000023.11:g.68840338C>T	ExAC,gnomAD
rs201249059	p.Ala243Thr	missense variant	-	NC_000023.11:g.68840340G>A	gnomAD
rs768333182	p.Val244Gly	missense variant	-	NC_000023.11:g.68840344T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala246Val	missense variant	-	chrX:g.68840350C>T	NCI-TCGA
NCI-TCGA novel	p.Gly247Ser	missense variant	-	chrX:g.68840352G>A	NCI-TCGA
rs1415919196	p.Gly247Ser	missense variant	-	NC_000023.11:g.68840352G>A	gnomAD
rs1463282981	p.Cys248Arg	missense variant	-	NC_000023.11:g.68840355T>C	TOPMed
rs369662868	p.Val249Leu	missense variant	-	NC_000023.11:g.68840358G>C	ESP,ExAC,gnomAD
rs369662868	p.Val249Ile	missense variant	-	NC_000023.11:g.68840358G>A	ESP,ExAC,gnomAD
rs369662868	p.Val249Phe	missense variant	-	NC_000023.11:g.68840358G>T	ESP,ExAC,gnomAD
RCV000785111	p.Ile250Ser	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68840362T>G	ClinVar
rs1389189354	p.Ile250Val	missense variant	-	NC_000023.11:g.68840361A>G	TOPMed,gnomAD
rs1305787789	p.Ile250Met	missense variant	-	NC_000023.11:g.68840363C>G	gnomAD
NCI-TCGA novel	p.Leu252Val	insertion	-	chrX:g.68840369_68840370insGTT	NCI-TCGA
NCI-TCGA novel	p.Leu253His	missense variant	-	chrX:g.68840371T>A	NCI-TCGA
rs752991896	p.Ile254Met	missense variant	-	NC_000023.11:g.68840375C>G	ExAC,TOPMed,gnomAD
rs765607277	p.Ile254Val	missense variant	-	NC_000023.11:g.68840373A>G	ExAC,gnomAD
rs1211427569	p.Ile254Thr	missense variant	-	NC_000023.11:g.68840374T>C	TOPMed,gnomAD
rs1463319199	p.Phe257Leu	missense variant	-	NC_000023.11:g.68840382T>C	TOPMed
COSM1124297	p.Thr259Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840389C>T	NCI-TCGA Cosmic
rs1251392015	p.Thr259Met	missense variant	-	NC_000023.11:g.68840389C>T	gnomAD
NCI-TCGA novel	p.Val260Phe	missense variant	-	chrX:g.68840391G>T	NCI-TCGA
rs752091564	p.Leu263Pro	missense variant	-	NC_000023.11:g.68840401T>C	ExAC,TOPMed,gnomAD
COSM1497352	p.Lys264Ter	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.68840403A>T	NCI-TCGA Cosmic
rs779503158	p.Lys264Arg	missense variant	-	NC_000023.11:g.68840404A>G	ExAC,gnomAD
rs754504608	p.Arg266Cys	missense variant	-	chrX:g.68840409C>T	NCI-TCGA,NCI-TCGA Cosmic
rs754504608	p.Arg266Cys	missense variant	-	NC_000023.11:g.68840409C>T	ExAC,TOPMed,gnomAD
rs1459990098	p.Arg266His	missense variant	-	NC_000023.11:g.68840410G>A	TOPMed,gnomAD
rs778499542	p.Arg268Trp	missense variant	-	NC_000023.11:g.68840415C>T	ExAC,gnomAD
rs747763749	p.Arg268Gln	missense variant	-	NC_000023.11:g.68840416G>A	ExAC,TOPMed,gnomAD
rs771846578	p.His269Tyr	missense variant	-	NC_000023.11:g.68840418C>T	ExAC,gnomAD
rs777491240	p.Arg270Cys	missense variant	-	NC_000023.11:g.68840421C>T	ExAC,gnomAD
rs1234782645	p.Arg270His	missense variant	-	NC_000023.11:g.68840422G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg270His	missense variant	-	chrX:g.68840422G>A	NCI-TCGA
rs1282336664	p.Lys271Thr	missense variant	-	NC_000023.11:g.68840425A>C	gnomAD
rs770815723	p.Thr273Arg	missense variant	-	NC_000023.11:g.68840431C>G	ExAC,gnomAD
rs1481695723	p.Gln274Arg	missense variant	-	NC_000023.11:g.68840434A>G	gnomAD
rs139877825	p.Arg276Gln	missense variant	-	NC_000023.11:g.68840440G>A	ESP,ExAC,TOPMed,gnomAD
rs1013245198	p.Arg276Trp	missense variant	-	NC_000023.11:g.68840439C>T	TOPMed,gnomAD
rs758554867	p.Ala277Val	missense variant	-	chrX:g.68840443C>T	NCI-TCGA
rs758554867	p.Ala277Val	missense variant	-	NC_000023.11:g.68840443C>T	1000Genomes,ExAC,gnomAD
rs1171813858	p.Ser281Leu	missense variant	-	NC_000023.11:g.68840455C>T	gnomAD
rs1375281574	p.Ser287Asn	missense variant	-	NC_000023.11:g.68840473G>A	TOPMed
COSM3562908	p.Pro288Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840476C>T	NCI-TCGA Cosmic
rs778402835	p.Gly290Arg	missense variant	-	NC_000023.11:g.68840481G>A	ExAC,TOPMed,gnomAD
COSM1469020	p.Gly291AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.68840480G>-	NCI-TCGA Cosmic
rs1305180253	p.Gly291Asp	missense variant	-	NC_000023.11:g.68840485G>A	gnomAD
rs1447065742	p.Gly291Ser	missense variant	-	NC_000023.11:g.68840484G>A	TOPMed
COSM1181095	p.Ser292GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.68840479_68840480insG	NCI-TCGA Cosmic
rs1376430043	p.Ser292Asn	missense variant	-	NC_000023.11:g.68840488G>A	TOPMed,gnomAD
rs1393321263	p.Thr294Arg	missense variant	-	NC_000023.11:g.68840494C>G	TOPMed,gnomAD
rs376456176	p.Thr294Ala	missense variant	-	NC_000023.11:g.68840493A>G	ESP,ExAC,TOPMed,gnomAD
rs1393321263	p.Thr294Ile	missense variant	-	NC_000023.11:g.68840494C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala295Thr	missense variant	-	chrX:g.68840496G>A	NCI-TCGA
rs369967894	p.Ala295Val	missense variant	-	NC_000023.11:g.68840497C>T	ESP,ExAC,TOPMed,gnomAD
rs1252934182	p.Thr297Ile	missense variant	-	NC_000023.11:g.68840503C>T	TOPMed
NCI-TCGA novel	p.Glu298Lys	missense variant	-	chrX:g.68840505G>A	NCI-TCGA
rs1296210840	p.Ser300Gly	missense variant	-	NC_000023.11:g.68840511A>G	TOPMed,gnomAD
rs1211924515	p.Ile303Val	missense variant	-	NC_000023.11:g.68840520A>G	gnomAD
rs1272736137	p.Ile304Val	missense variant	-	NC_000023.11:g.68840523A>G	gnomAD
COSM1469021	p.Arg307Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840533G>A	NCI-TCGA Cosmic
COSM1124299	p.Thr308Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840536C>T	NCI-TCGA Cosmic
rs1214594126	p.Asn312Lys	missense variant	-	NC_000023.11:g.68840549C>A	gnomAD
rs777593766	p.Cys314Tyr	missense variant	-	NC_000023.11:g.68840554G>A	ExAC,gnomAD
rs746829979	p.Pro315Leu	missense variant	-	NC_000023.11:g.68840557C>T	ExAC
rs757141230	p.His316Tyr	missense variant	-	NC_000023.11:g.68840559C>T	ExAC,gnomAD
rs781238120	p.His316Arg	missense variant	-	NC_000023.11:g.68840560A>G	ExAC
NCI-TCGA novel	p.Glu318Gly	missense variant	-	chrX:g.68840566A>G	NCI-TCGA
rs1323390789	p.LysValSerGly319LysValSerGlyTerValUnk	stop gained	-	NC_000023.11:g.68840579_68840580insTGAGTGGG	TOPMed
NCI-TCGA novel	p.Val320Met	missense variant	-	chrX:g.68840571G>A	NCI-TCGA
NCI-TCGA novel	p.Ser321Cys	missense variant	-	chrX:g.68840574A>T	NCI-TCGA
rs1422303104	p.Gly322Glu	missense variant	-	NC_000023.11:g.68840578G>A	gnomAD
rs372510064	p.His326Gln	missense variant	-	NC_000023.11:g.68840591C>A	ESP,ExAC,TOPMed,gnomAD
rs1162137787	p.His326Asn	missense variant	-	NC_000023.11:g.68840589C>A	gnomAD
rs749494191	p.Ile330Val	missense variant	-	NC_000023.11:g.68840601A>G	ExAC,gnomAD
rs376262683	p.Val331Phe	missense variant	-	NC_000023.11:g.68840604G>T	ESP,ExAC,TOPMed,gnomAD
rs376262683	p.Val331Ile	missense variant	-	NC_000023.11:g.68840604G>A	ESP,ExAC,TOPMed,gnomAD
rs1389059847	p.Gln332Arg	missense variant	-	NC_000023.11:g.68840608A>G	TOPMed
rs370690590	p.Pro335Leu	missense variant	-	chrX:g.68840617C>T	NCI-TCGA,NCI-TCGA Cosmic
rs370690590	p.Pro335Leu	missense variant	-	NC_000023.11:g.68840617C>T	ESP,ExAC,TOPMed,gnomAD
rs1342326823	p.Pro339Leu	missense variant	-	NC_000023.11:g.68840629C>T	TOPMed,gnomAD
rs761232213	p.Ala340Val	missense variant	-	chrX:g.68840632C>T	NCI-TCGA
rs761232213	p.Ala340Val	missense variant	-	NC_000023.11:g.68840632C>T	ExAC,gnomAD
rs752189120	p.Ile342Val	missense variant	-	NC_000023.11:g.68840637A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE;LHGDN
C0004114	Astrocytoma	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010278	Craniosynostosis	disease	BEFREE;CTD_human;GENOMICS_ENGLAND;HPO
C0010417	Cryptorchidism	disease	HPO
C0015310	Exotropia	disease	HPO
C0017636	Glioblastoma	disease	BEFREE
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0019284	Diaphragmatic Hernia	phenotype	BEFREE
C0019322	Umbilical hernia	phenotype	HPO
C0020534	Orbital separation excessive	phenotype	CTD_human;HPO
C0021368	Inflammation	phenotype	CTD_human
C0023418	leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE;HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0028738	Nystagmus	disease	HPO
C0028754	Obesity	disease	CTD_human
C0029463	Osteosarcoma	disease	LHGDN
C0030044	Acrocephaly	disease	CTD_human
C0037932	Curvature of spine	phenotype	HPO
C0038356	Stomach Neoplasms	group	LHGDN
C0086437	Joint laxity	phenotype	HPO
C0151846	Periosteal Disorder	disease	BEFREE
C0152438	Sprengel deformity	disease	HPO
C0158646	Cleft palate with cleft lip	disease	HPO
C0158733	Hand polydactyly	disease	HPO
C0162359	Christ-Siemens-Touraine syndrome	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0220767	Craniofrontonasal dysplasia	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0221352	Syndactyly of fingers	disease	HPO
C0221354	Frontal bossing	disease	HPO
C0221356	Brachycephaly	disease	CTD_human;HPO
C0221357	Brachydactyly	disease	HPO
C0235833	Congenital diaphragmatic hernia	disease	BEFREE;HPO
C0235942	Abnormality of the skull	phenotype	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0262444	Abnormality of the dentition	phenotype	HPO
C0263530	Longitudinal split nail	phenotype	HPO
C0265529	Plagiocephaly	disease	HPO
C0265534	Scaphycephaly	disease	CTD_human
C0265535	Trigonocephaly	disease	CTD_human
C0265660	Syndactyly of the toes	disease	HPO
C0267111	Gastric dysplasia	disease	BEFREE
C0343073	Wooly hair	phenotype	HPO
C0344482	Hypoplasia of corpus callosum	disease	HPO
C0349588	Short stature	phenotype	HPO
C0376634	Craniofacial Abnormalities	group	BEFREE
C0409348	Flexion contracture of proximal interphalangeal joint	phenotype	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423113	Telecanthus	phenotype	HPO
C0423820	Ridged nails	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424605	Developmental delay (disorder)	disease	BEFREE
C0424688	Small head	phenotype	HPO
C0426428	Bifid nasal tip	phenotype	HPO
C0426806	Bipartite clavicle	phenotype	HPO
C0426811	Pseudoarthrosis of clavicle	phenotype	HPO
C0432106	Midline facial cleft - Tessier cleft 0	disease	BEFREE
C0521525	Short neck	phenotype	HPO
C0557874	Global developmental delay	disease	BEFREE;HPO
C0576962	Tooth problem	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0795801	trisomy 2	disease	BEFREE
C0848558	Hypospadias	group	HPO
C0917816	Mental deficiency	disease	HPO
C1306710	Facial asymmetry	phenotype	HPO
C1450010	Plagiocephaly, Nonsynostotic	phenotype	HPO
C1516061	Astler-Coller B1 Rectal Carcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1691215	Penile hypospadias	disease	HPO
C1706004	Anhydrotic Ectodermal Dysplasias	disease	BEFREE
C1833340	Synostotic Posterior Plagiocephaly	disease	CTD_human
C1836940	Thickened nuchal skin fold	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840069	Sandal gap	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1844722	Unilateral breast hypoplasia	phenotype	HPO
C1844731	Hypoplastic nasal tip	phenotype	HPO
C1844734	Hemihypotrophy of lower limb	phenotype	HPO
C1844738	Axillary pterygia	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1849392	Ridged fingernail	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1853486	Widow's peak	disease	HPO
C1855728	Low posterior hairline	phenotype	HPO
C1856266	Coronal craniosynostosis	disease	HPO
C1856872	Down-sloping shoulders	phenotype	HPO
C1856963	Fragile nails	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1858539	Shawl scrotum	phenotype	HPO
C1860819	Metopic synostosis	disease	CTD_human
C1864897	Cognitive delay	phenotype	HPO
C1867131	Broad hallux	phenotype	HPO
C1876203	Frontonasal dysplasia	disease	BEFREE;CTD_human
C2051831	Pectus excavatum	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2931150	Synostotic Anterior Plagiocephaly	disease	CTD_human
C2981150	Uranostaphyloschisis	disease	HPO
C3553764	Joint hyperflexibility	phenotype	HPO
C3642346	Luminal B Breast Carcinoma	disease	BEFREE
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020890	Notched nasal tip	phenotype	HPO
C4021343	Broad hallux phalanx	phenotype	HPO
C4021813	Oral cleft	disease	HPO
C4025411	Midline defect of the nose	phenotype	HPO
C4025763	Abnormality of the rib cage	phenotype	HPO
C4072823	Broad cranium shape	phenotype	HPO
C4072824	Wide skull shape	phenotype	HPO
C4072830	Asymmetry of the posterior cranium	phenotype	HPO
C4072835	Kinky hair texture	phenotype	HPO
C4072836	Nappy hair texture	phenotype	HPO
C4073292	Afro-textured hair	phenotype	HPO
C4280496	Hypotrophic nasal tip	phenotype	HPO
C4280497	Aplasia of nasal tip	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280539	Central cleft of nose	phenotype	HPO
C4280597	Rhomboid shaped head	phenotype	HPO
C4280598	Flattening of head	phenotype	HPO
C4280807	Flattening of cranial vault	phenotype	HPO
C4476527	Flat head	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0046875	ephrin receptor binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001755	neural crest cell migration	IEA
GO:0007155	cell adhesion	TAS
GO:0007267	cell-cell signaling	TAS
GO:0007411	axon guidance	IBA
GO:0009880	embryonic pattern specification	IEA
GO:0031295	T cell costimulation	IEA
GO:0042102	positive regulation of T cell proliferation	IEA
GO:0048013	ephrin receptor signaling pathway	IBA
GO:0048013	ephrin receptor signaling pathway	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IEA
GO:0005737	cytoplasm	IEA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0045121	membrane raft	IEA
GO:0045202	synapse	ISS
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1266738	Developmental Biology	IEA
R-HSA-2682334	EPH-Ephrin signaling	TAS
R-HSA-2682334	EPH-Ephrin signaling	IEA
R-HSA-3928662	EPHB-mediated forward signaling	TAS
R-HSA-3928662	EPHB-mediated forward signaling	IEA
R-HSA-3928664	Ephrin signaling	IEA
R-HSA-3928664	Ephrin signaling	TAS
R-HSA-3928665	EPH-ephrin mediated repulsion of cells	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-422475	Axon guidance	IEA

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 bisphenol A] results in increased expression of EFNB1 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 EFNB1 mRNA	28628672
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of EFNB1 mRNA	23196670
C496492	abrine	abrine results in increased expression of EFNB1 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of EFNB1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of EFNB1 mRNA	21641981; 22100608;
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of EFNB1 mRNA	21298039
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of EFNB1 mRNA	16483693
D001151	Arsenic	Arsenic results in increased expression of EFNB1 mRNA	24019935
D001280	Atrazine	Atrazine results in increased expression of EFNB1 mRNA	22378314
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of EFNB1 mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of EFNB1 mRNA	22316170
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of EFNB1 mRNA	27858113
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of EFNB1 mRNA	27858113
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of EFNB1 mRNA	26377693
C006780	bisphenol A	bisphenol A affects the expression of EFNB1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of EFNB1 mRNA	22194820
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 EFNB1 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of EFNB1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of EFNB1 mRNA	30816183
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 EFNB1 mRNA	28628672
D002104	Cadmium	Cadmium results in decreased expression of EFNB1 mRNA	24067728
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of EFNB1 mRNA	26472689
D002220	Carbamazepine	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in increased expression of EFNB1 mRNA	22701549
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of EFNB1 mRNA	20350560
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of EFNB1 mRNA	27858113
C031180	chrysene	chrysene results in decreased expression of EFNB1 mRNA	26377693
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of EFNB1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of EFNB1 mRNA	27392435; 27594783;
D003042	Cocaine	Cocaine results in increased expression of EFNB1 mRNA	15691709; 17898221;
D003300	Copper	Copper results in decreased expression of EFNB1 mRNA	26293553
D003471	Cuprizone	Cuprizone results in increased expression of EFNB1 mRNA	26577399
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of EFNB1 mRNA]	27941970
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 EFNB1 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 EFNB1 mRNA	28628672
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of EFNB1 mRNA	21266533
D004221	Disulfiram	Disulfiram results in decreased expression of EFNB1 mRNA	20530235
C012301	domoic acid	domoic acid results in increased expression of EFNB1 mRNA	18936300
D004317	Doxorubicin	Doxorubicin results in increased expression of EFNB1 mRNA	29803840
D060766	Drinking Water	Drinking Water results in increased expression of EFNB1 mRNA	19444861
D004726	Endosulfan	Endosulfan results in decreased expression of EFNB1 mRNA	29391264
D004958	Estradiol	Estradiol affects the expression of EFNB1 mRNA	15598610
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of EFNB1 mRNA	17555576
D005473	Fluoxetine	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in increased expression of EFNB1 mRNA	22701549
C039281	furan	furan results in increased methylation of EFNB1 gene	22079235
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of EFNB1 mRNA	29432896
D005839	Gentamicins	Gentamicins results in decreased expression of EFNB1 mRNA	22061828
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 EFNB1 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 EFNB1 mRNA	28628672
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of EFNB1 mRNA	29432896
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of EFNB1 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of EFNB1 mRNA	27432991
D000077339	Leflunomide	Leflunomide results in decreased expression of EFNB1 mRNA	28988120
D008344	Maneb	[LRRK2 protein mutant form co-treated with Maneb co-treated with Paraquat] results in decreased expression of EFNB1 mRNA	23017109
D008628	Mercury	Mercury results in increased expression of EFNB1 mRNA	16823088
D008694	Methamphetamine	Methamphetamine results in increased expression of EFNB1 mRNA	19564919
D008727	Methotrexate	Methotrexate affects the expression of EFNB1 mRNA	18502557
D008748	Methylcholanthrene	Methylcholanthrene results in increased expression of EFNB1 mRNA	20713471
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of EFNB1 mRNA	26011545
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of EFNB1 mRNA	25511174
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of EFNB1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of EFNB1 mRNA	25554681
D010269	Paraquat	[LRRK2 protein mutant form co-treated with Maneb co-treated with Paraquat] results in decreased expression of EFNB1 mRNA	23017109
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of EFNB1 mRNA	29432896
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of EFNB1 mRNA	23892564
D010634	Phenobarbital	Phenobarbital affects the expression of EFNB1 mRNA	19159669
D010634	Phenobarbital	Phenobarbital affects the expression of EFNB1 mRNA	23091169
C006253	pirinixic acid	pirinixic acid results in increased expression of EFNB1 mRNA	18301758
D010938	Plant Oils	Plant Oils results in increased expression of EFNB1 mRNA	23370395
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of EFNB1 mRNA	29432896
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of EFNB1 protein	23718831
C045950	propiconazole	propiconazole results in decreased expression of EFNB1 mRNA	21278054
D011441	Propylthiouracil	Propylthiouracil results in increased expression of EFNB1 mRNA	24780913
C534628	SCH 23390	SCH 23390 results in increased expression of EFNB1 mRNA	19564919
C017947	sodium arsenite	sodium arsenite results in decreased expression of EFNB1 mRNA	16014739
D012999	Soman	Soman results in increased expression of EFNB1 mRNA	19281266
D013605	T-2 Toxin	T-2 Toxin results in increased expression of EFNB1 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of EFNB1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to and results in increased activity of AHR protein] which results in decreased expression of EFNB1 mRNA	21602191
D013893	Thiram	Thiram results in decreased expression of EFNB1 mRNA	20530235
C016151	tinuvin	tinuvin analog results in decreased expression of EFNB1 mRNA	30315675
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of EFNB1 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of EFNB1 mRNA	20133372
D014118	Toxins, Biological	Toxins, Biological affects the expression of EFNB1 mRNA	19682533
D014212	Tretinoin	Tretinoin results in decreased expression of EFNB1 mRNA	23724009
D014212	Tretinoin	Tretinoin results in increased expression of EFNB1 mRNA	16604517
D014241	Trichloroethylene	Trichloroethylene results in increased expression of EFNB1 mRNA	15363585
D014520	Urethane	Urethane results in increased expression of EFNB1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in increased methylation of EFNB1 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of EFNB1 mRNA	17292431
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of EFNB1 gene	25560391
D000069470	Venlafaxine Hydrochloride	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in increased expression of EFNB1 mRNA	22701549
C025643	vinclozolin	vinclozolin results in decreased expression of EFNB1 mRNA	18042343

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1003	Cell membrane
KW-0989	Craniosynostosis
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0524	Neurogenesis
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR008972	Cupredoxin
IPR031328	Ephrin
IPR034255	Ephrin-B_Ecto
IPR019765	Ephrin_CS
IPR001799	Ephrin_RBD

PROSITE

PROSITE ID	PROSITE Term
PS01299	EPHRIN_RBD_1
PS51551	EPHRIN_RBD_2

Pfam

Pfam ID	Pfam Term
PF00812	Ephrin

Gene: EFNB1

Basic information

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