EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr14	67111914	Silent	novel	D456D	0.79
BLCA	chr14	67058749	Missense_Mutation	novel	M336I	0.07
BLCA	chr14	67143424	Missense_Mutation	NA	S571L	0.15
BLCA	chr14	66824498	Missense_Mutation	NA	E76K	0.26
BLCA	chr14	66824482	Silent	novel	L70L	0.34
BLCA	chr14	67113169	Missense_Mutation	NA	E509K	0.09
BLCA	chr14	67089014	Silent	rs200461676	V359V	0.11
BLCA	chr14	66922786	Missense_Mutation	novel	L193V	0.44
BRCA	chr14	66924262	Intron	novel		0.1
BRCA	chr14	66916057	Silent	novel	K148K	0.08
BRCA	chr14	66681130	Missense_Mutation	NA	L30I	0.18
BRCA	chr14	66776510	Nonsense_Mutation	NA	E64*	0.25
BRCA	chr14	67180836	Missense_Mutation	NA	R704C	0.56
CESC	chr14	66508036	5'UTR	novel		0.33
CESC	chr14	66824498	Missense_Mutation	NA	E76K	0.57
CESC	chr14	67181569	3'UTR	novel		0.15
CESC	chr14	66508561	Missense_Mutation	novel	D12N	0.41
CESC	chr14	67110202	Silent	novel	C419C	0.47
CESC	chr14	66507927	5'UTR	novel		0.23
CESC	chr14	66508067	5'UTR	novel		0.15
CESC	chr14	66508460	5'UTR	novel		0.32
CESC	chr14	66508221	5'UTR	novel		0.43
CHOL	chr14	66965246	Frame_Shift_Del	novel	*L263Sfs61**	0.2
COAD	chr14	66924244	Intron	NA		0.26
COAD	chr14	67143445	Missense_Mutation	NA	E578G	0.41
COAD	chr14	67165213	Missense_Mutation	novel	I621M	0.21
COAD	chr14	67111882	Nonsense_Mutation	rs778591008	R446*	0.4
COAD	chr14	66879961	Missense_Mutation	NA	R106Q	0.3
COAD	chr14	66924281	Intron	NA		0.33
COAD	chr14	66916000	Splice_Region	NA		0.31
COAD	chr14	67113043	Frame_Shift_Del	NA	*E468Nfs21**	0.39
COAD	chr14	66922780	Frame_Shift_Del	NA	*P192Lfs44**	0.2
COAD	chr14	67122295	Nonsense_Mutation	NA	R523*	0.34
COAD	chr14	67168933	Missense_Mutation	NA	G626V	0.2
COAD	chr14	66776513	Nonsense_Mutation	novel	E65*	0.08
COAD	chr14	67168945	Missense_Mutation	NA	S630L	0.09
COAD	chr14	66824474	Nonsense_Mutation	NA	E68*	0.38
COAD	chr14	66922791	Silent	NA	S194S	0.21
DLBC	chr14	66681112	Missense_Mutation	novel	D24Y	0.16
DLBC	chr14	66776465	Missense_Mutation	novel	L49V	0.3
ESCA	chr14	66507998	5'UTR	novel		0.06
ESCA	chr14	66824515	Missense_Mutation	novel	L81F	0.21
ESCA	chr14	67181518	3'UTR	novel		0.2
GBM	chr14	66508506	5'UTR	novel		0.66
GBM	chr14	67122360	Silent	novel	L544L	0.12
GBM	chr14	67100861	Missense_Mutation	novel	D382H	0.07
GBM	chr14	67143426	Missense_Mutation	novel	G572R	0.57
GBM	chr14	67058824	Intron	novel		0.07
HNSC	chr14	66508447	5'UTR	novel		0.06
HNSC	chr14	66922870	Missense_Mutation	novel	D221H	0.56
HNSC	chr14	67058890	Intron	novel		0.12
HNSC	chr14	67058892	Intron	novel		0.04
HNSC	chr14	67122322	Missense_Mutation	novel	A532T	0.19
HNSC	chr14	66924239	Intron	novel		0.18
HNSC	chr14	67180818	Missense_Mutation	NA	S698C	0.56
KIRC	chr14	66681168	Silent	rs751833125	L42L	0.46
KIRC	chr14	66924225	Intron	novel		0.32
KIRP	chr14	66922684	Silent	novel	L159L	0.08
KIRP	chr14	67180822	Missense_Mutation	rs756728918	R699H	0.47
KIRP	chr14	66824500	Missense_Mutation	NA	E76D	0.28
KIRP	chr14	67179656	Missense_Mutation	novel	P687T	0.53
KIRP	chr14	66922708	Missense_Mutation	NA	D167H	0.29
LAML	chr14	67110243	Missense_Mutation	novel	I433T	0.03
LGG	chr14	66916030	Silent	rs763888545	T139T	0.29
LGG	chr14	67058863	Intron	novel		0.46
LGG	chr14	67113072	Silent	rs750109574	H476H	0.54
LGG	chr14	67179596	Missense_Mutation	novel	L667F	0.34
LIHC	chr14	67179649	Missense_Mutation	NA	E684D	0.46
LIHC	chr14	66879998	Silent	NA	G118G	0.69
LIHC	chr14	66681143	Missense_Mutation	rs530173903	R34H	0.53
LIHC	chr14	66824535	Frame_Shift_Del	novel	*T88Kfs16**	0.24
LIHC	chr14	67122301	Missense_Mutation	novel	S525C	0.18
LIHC	chr14	67122358	Silent	novel	L544L	0.37
LIHC	chr14	67180849	Missense_Mutation	NA	G708A	0.18
LIHC	chr14	66922753	Nonsense_Mutation	NA	E182*	0.65
LIHC	chr14	67058761	Silent	rs766338596	L340L	0.33
LIHC	chr14	66916049	Missense_Mutation	NA	G146R	0.23
LUAD	chr14	66508447	5'UTR	novel		0.22
LUAD	chr14	67122307	Missense_Mutation	NA	R527C	0.65
LUAD	chr14	66965271	Silent	novel	S270S	0.5
LUAD	chr14	66879997	Missense_Mutation	novel	G118E	0.3
LUAD	chr14	67113112	Missense_Mutation	NA	V490F	0.24
LUAD	chr14	66922863	Missense_Mutation	novel	E218D	0.07
LUAD	chr14	66924218	Intron	novel		0.28
LUAD	chr14	66508426	5'UTR	NA		0.32
LUAD	chr14	67110141	Missense_Mutation	novel	P399R	0.11
LUAD	chr14	67058681	Missense_Mutation	novel	R314G	0.39
LUSC	chr14	67143396	Missense_Mutation	novel	I562V	0.43
LUSC	chr14	67159461	Missense_Mutation	novel	H595L	0.33
LUSC	chr14	67089026	Silent	NA	D363D	0.28
LUSC	chr14	67100864	Frame_Shift_Del	novel	*G383Afs21**	0.36
LUSC	chr14	67100865	Missense_Mutation	novel	G383D	0.35
LUSC	chr14	67058862	Intron	novel		0.13
LUSC	chr14	66916045	Frame_Shift_Del	novel	*P145Qfs30**	0.14
LUSC	chr14	67113088	Missense_Mutation	novel	I482V	0.21
LUSC	chr14	66922799	Missense_Mutation	novel	P197L	0.62
LUSC	chr14	67058784	Missense_Mutation	rs200511259	R348Q	0.13
LUSC	chr14	66916030	Silent	rs763888545	T139T	0.09
LUSC	chr14	66924239	Intron	novel		0.2
LUSC	chr14	67058675	Missense_Mutation	novel	V312L	0.53
LUSC	chr14	66508591	Missense_Mutation	novel	V22M	0.13
OV	chr14	67058772	Missense_Mutation	NA	I344N	0.45
OV	chr14	67169011	Missense_Mutation	NA	P652L	0.35
PRAD	chr14	67089045	Missense_Mutation	novel	A370T	0.34
PRAD	chr14	67111882	Nonsense_Mutation	rs778591008	R446*	0.4
READ	chr14	67058752	Frame_Shift_Ins	NA	*V339Gfs44**	0.18
READ	chr14	66922745	Missense_Mutation	NA	V179A	0.13
READ	chr14	67179593	Missense_Mutation	NA	K666Q	0.22
READ	chr14	66776510	Missense_Mutation	NA	E64K	0.18
READ	chr14	66922708	Missense_Mutation	NA	D167Y	0.14
SARC	chr14	67180883	Silent	novel	Y719Y	0.13
SKCM	chr14	67179605	Missense_Mutation	novel	R670C	0.32
SKCM	chr14	66965234	Missense_Mutation	rs774716332	R258Q	0.34
SKCM	chr14	67113164	Missense_Mutation	NA	G507E	0.28
SKCM	chr14	67143416	Silent	NA	I568I	0.43
SKCM	chr14	66965251	Missense_Mutation	novel	S264C	0.35
SKCM	chr14	66916024	Silent	novel	G137G	0.55
SKCM	chr14	67058890	Intron	novel		0.29
SKCM	chr14	67180951	3'UTR	novel		0.14
SKCM	chr14	66965194	Missense_Mutation	NA	P245S	0.09
SKCM	chr14	67168965	Missense_Mutation	novel	L637F	0.05
SKCM	chr14	66924250	Intron	novel		0.73
SKCM	chr14	67100876	Missense_Mutation	NA	R387C	0.78
SKCM	chr14	67023661	Missense_Mutation	NA	N298S	0.23
SKCM	chr14	67181012	3'UTR	novel		0.25
SKCM	chr14	67122336	Silent	NA	E536E	0.33
SKCM	chr14	66880020	Missense_Mutation	novel	G126S	0.09
SKCM	chr14	66922675	Nonsense_Mutation	NA	Q156*	0.09
SKCM	chr14	66922782	Silent	novel	P191P	0.14
SKCM	chr14	66681179	Missense_Mutation	novel	P46L	0.65
SKCM	chr14	67122351	Silent	rs774161949	T541T	0.32
SKCM	chr14	67122307	Missense_Mutation	NA	R527C	0.49
SKCM	chr14	67159470	Missense_Mutation	novel	R598K	0.24
SKCM	chr14	67180834	Missense_Mutation	NA	M703K	0.28
SKCM	chr14	67100889	Missense_Mutation	NA	G391E	0.35
SKCM	chr14	66681168	Silent	rs751833125	L42L	0.18
SKCM	chr14	67113094	Missense_Mutation	NA	L484F	0.36
SKCM	chr14	67058740	Silent	NA	V333V	0.22
SKCM	chr14	67180869	Missense_Mutation	novel	K715E	0.38
SKCM	chr14	66880006	Missense_Mutation	novel	N121I	0.51
SKCM	chr14	67179644	Nonsense_Mutation	novel	Q683*	0.54
SKCM	chr14	67058882	Intron	novel		0.71
STAD	chr14	66965270	Missense_Mutation	NA	S270L	0.16
STAD	chr14	67110210	Missense_Mutation	NA	D422G	0.19
STAD	chr14	66965236	Missense_Mutation	novel	D259H	0.06
STAD	chr14	66508556	Missense_Mutation	NA	N10S	0.04
STAD	chr14	67111900	Missense_Mutation	NA	R452W	0.31
STAD	chr14	66924291	Intron	NA		0.4
STAD	chr14	67110235	Silent	rs773577927	T430T	0.17
STAD	chr14	67122286	Missense_Mutation	NA	G520W	0.27
STAD	chr14	67180836	Missense_Mutation	NA	R704C	0.33
STAD	chr14	67180883	Silent	novel	Y719Y	0.22
STAD	chr14	66681143	Missense_Mutation	rs530173903	R34H	0.33
STAD	chr14	67143444	Missense_Mutation	NA	E578K	0.52
STAD	chr14	66508552	Missense_Mutation	NA	T9A	0.42
STAD	chr14	67111900	Missense_Mutation	NA	R452W	0.2
STAD	chr14	66508479	5'UTR	novel		0.12
STAD	chr14	67110213	Missense_Mutation	NA	A423V	0.34
STAD	chr14	66922724	Missense_Mutation	NA	A172V	0.17
THYM	chr14	66508171	5'UTR	novel		0.28
UCEC	chr14	66508555	Missense_Mutation	rs121908539	N10Y	0.28
UCEC	chr14	66965210	Missense_Mutation	NA	S250F	0.38
UCEC	chr14	67100876	Missense_Mutation	NA	R387C	0.34
UCEC	chr14	67159452	Missense_Mutation	NA	A592V	0.3
UCEC	chr14	67179620	Missense_Mutation	NA	R675W	0.37
UCEC	chr14	67058697	Missense_Mutation	NA	S319Y	0.24
UCEC	chr14	67165213	Silent	rs750415918	I621I	0.33
UCEC	chr14	67180901	Silent	NA	G725G	0.26
UCEC	chr14	67110158	Missense_Mutation	novel	P405S	0.07
UCEC	chr14	67111882	Nonsense_Mutation	rs778591008	R446*	0.11
UCEC	chr14	67122295	Nonsense_Mutation	NA	R523*	0.34
UCEC	chr14	66824507	Missense_Mutation	novel	L79F	0.14
UCEC	chr14	66965212	Missense_Mutation	rs773829426	R251C	0.32
UCEC	chr14	67058754	Missense_Mutation	rs749278127	P338L	0.48
UCEC	chr14	67110168	Missense_Mutation	novel	V408A	0.36
UCEC	chr14	67181279	3'UTR	novel		0.33
UCEC	chr14	67181694	3'UTR	novel		0.3
UCEC	chr14	67113027	Silent	NA	G461G	0.18
UCEC	chr14	67143434	Silent	novel	V574V	0.38
UCEC	chr14	67058811	Intron	novel		0.04
UCEC	chr14	67111882	Nonsense_Mutation	rs778591008	R446*	0.35
UCEC	chr14	66922860	In_Frame_Ins	novel	E217_E218insKKI	0.09
UCEC	chr14	66924290	Intron	rs777009433		0.19
UCEC	chr14	67058732	Missense_Mutation	NA	I331V	0.12
UCEC	chr14	67181089	3'UTR	novel		0.12
UCEC	chr14	67181276	3'UTR	novel		0.52
UCEC	chr14	66916018	Missense_Mutation	NA	I135M	0.42
UCEC	chr14	66916022	Missense_Mutation	novel	G137W	0.35
UCEC	chr14	66508582	Missense_Mutation	novel	V19F	0.14
UCEC	chr14	67168945	Missense_Mutation	NA	S630L	0.45
UCEC	chr14	67181132	3'UTR	novel		0.08
UCEC	chr14	67181058	3'UTR	novel		0.25
UCEC	chr14	66924219	Intron	NA		0.25
UCEC	chr14	66824479	Silent	novel	T69T	0.35
UCEC	chr14	67023666	Missense_Mutation	novel	L300F	0.18
UCEC	chr14	67122297	Silent	novel	R523R	0.28
UCEC	chr14	67089037	Missense_Mutation	novel	P367L	0.5
UCEC	chr14	67110202	Silent	novel	C419C	0.35
UCEC	chr14	67181002	3'UTR	novel		0.45
UCEC	chr14	66508389	5'UTR	novel		0.67
UCEC	chr14	66824535	Missense_Mutation	novel	T88R	0.18
UCEC	chr14	67180833	Missense_Mutation	rs773187265	M703V	0.09
UCEC	chr14	67088994	Nonsense_Mutation	NA	R353*	0.38
UCEC	chr14	67058825	Intron	novel		0.42
UCEC	chr14	67181547	3'UTR	novel		0.34
UCEC	chr14	67181515	3'UTR	rs7154827		0.53
UCEC	chr14	67179584	Missense_Mutation	NA	C663R	0.26
UCEC	chr14	67100876	Missense_Mutation	NA	R387C	0.51
UCEC	chr14	67181134	3'UTR	novel		0.38
UCEC	chr14	66965261	Missense_Mutation	novel	P267L	0.44
UCEC	chr14	66922786	Missense_Mutation	novel	L193I	0.15
UCEC	chr14	67058833	Intron	novel		0.44
UCEC	chr14	67110202	Silent	novel	C419C	0.3
UCEC	chr14	67181516	3'UTR	rs747158197		0.43
UCEC	chr14	67058740	Silent	novel	V333V	0.43
UCEC	chr14	66507927	5'UTR	novel		0.12
UCEC	chr14	67113158	Nonsense_Mutation	novel	S505*	0.25
UCEC	chr14	66965272	Missense_Mutation	novel	P271S	0.25
UCEC	chr14	67058780	Missense_Mutation	novel	Y347H	0.07
UCEC	chr14	67181545	3'UTR	novel		0.53
UCEC	chr14	67181648	3'UTR	novel		0.41
UCEC	chr14	66507761	5'UTR	novel		0.28
UCEC	chr14	66508069	5'UTR	novel		0.48
UCEC	chr14	67181648	3'UTR	novel		0.47
UCEC	chr14	67100876	Missense_Mutation	NA	R387C	0.34
UCEC	chr14	66922696	Missense_Mutation	novel	P163S	0.19
UCEC	chr14	67159412	Splice_Region	novel		0.38
UCEC	chr14	67169027	Silent	novel	I657I	0.14
UCEC	chr14	67181320	3'UTR	novel		0.48
UCEC	chr14	67165187	Missense_Mutation	NA	D613N	0.27
UCEC	chr14	67169032	Missense_Mutation	NA	A659V	0.14
UCEC	chr14	67180929	Missense_Mutation	rs780146563	R735W	0.25
UCEC	chr14	66507947	5'UTR	novel		0.41
UCEC	chr14	66965313	Silent	novel	C284C	0.35
UCEC	chr14	67180836	Missense_Mutation	NA	R704C	0.36
UCEC	chr14	66507845	5'UTR	novel		0.39
UCEC	chr14	66922825	Missense_Mutation	novel	E206K	0.19
UCEC	chr14	67058824	Intron	novel		0.31
UCEC	chr14	67181023	3'UTR	novel		0.39
UCEC	chr14	66965211	Silent	novel	S250S	0.36
UCEC	chr14	67180960	3'UTR	novel		0.29

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
ACC	DEL	0.1333	0.19769
BRCA	DEL	0.2676	6.1292e-10
CHOL	DEL	0.5556	0.00040262
COAD	DEL	0.3016	0.050084
ESCA	DEL	0.2391	0.1651
GBM	DEL	0.2773	5.7274e-07
KIRC	DEL	0.3788	0.0074281
KIRP	DEL	0.1667	0.085174
LGG	DEL	0.2086	1.1681e-13
LIHC	DEL	0.3243	9.195e-08
MESO	DEL	0.4138	0.088547
OV	DEL	0.4905	6.0694e-08
PAAD	DEL	0.0652	0.11332
READ	DEL	0.3697	0.189
SARC	DEL	0.2879	0.0013077
SKCM	DEL	0.2916	0.046369
STAD	DEL	0.2404	0.00031723

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.0001	Kaplan-Meier Survival Analysis
SARC	0.003	Kaplan-Meier Survival Analysis
ACC	0.05	Kaplan-Meier Survival Analysis
HNSC	0.034	Kaplan-Meier Survival Analysis
PRAD	0.035	Kaplan-Meier Survival Analysis
KIRP	0.0085	Kaplan-Meier Survival Analysis
PCPG	0.017	Kaplan-Meier Survival Analysis
BLCA	0.00018	Kaplan-Meier Survival Analysis
CESC	0.033	Kaplan-Meier Survival Analysis
LAML	0.00025	Kaplan-Meier Survival Analysis
LGG	0.0039	Kaplan-Meier Survival Analysis
CHOL	0.049	Kaplan-Meier Survival Analysis

Drugs

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Expression

Transcripts

Gene Model

Pathway

Phenotype

GWAS

PPI

Ortholog

Gene Ontology

Description

Ensembl ID: ENSG00000171723 (Gene tree)
Gene ID: 10243
Gene Symbol: GPHN
Alias: KIAA1385
Full Name: gephyrin
Gene Type: protein_coding
Specie: Homo_sapiens
Strand: Plus strand
Length: 674,402 bases
Position: chr14:66,507,407-67,181,808
Accession: 15465
Summary: This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000555456	GPHN-207	841	-	ENSP00000450706	280 (aa)	-	H0YJ30
ENST00000556240	GPHN-212	404	-	ENSP00000450442	60 (aa)	-	H0YIY4
ENST00000557654	GPHN-215	503	-	ENSP00000451790	49 (aa)	-	G3V4R0
ENST00000478722	GPHN-203	4297	XM_011536342	ENSP00000417901	769 (aa)	XP_011534644	Q9NQX3
ENST00000459628	GPHN-202	1723	XM_017020925	ENSP00000452220	380 (aa)	XP_016876414	G3V582
ENST00000315266	GPHN-201	4193	XM_005267254	ENSP00000312771	736 (aa)	XP_005267311	Q9NQX3
ENST00000543237	GPHN-204	2459	XM_011536340	ENSP00000438404	782 (aa)	XP_011534642	F5H039
ENST00000557678	GPHN-216	592	-	-	- (aa)	-	-
ENST00000555527	GPHN-209	493	-	-	- (aa)	-	-
ENST00000544752	GPHN-205	2514	-	-	- (aa)	-	-
ENST00000555668	GPHN-210	550	-	ENSP00000451935	49 (aa)	-	G3V4R0
ENST00000556633	GPHN-214	512	-	ENSP00000451056	50 (aa)	-	G3V355
ENST00000555503	GPHN-208	655	-	ENSP00000452009	201 (aa)	-	H0YJR5
ENST00000556020	GPHN-211	562	-	-	- (aa)	-	-
ENST00000553936	GPHN-206	574	-	ENSP00000451725	39 (aa)	-	G3V4D2
ENST00000556501	GPHN-213	435	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000171723's gene model file

Pathway

Pathway ID	Pathway Name	Source
hsa00790	Folate biosynthesis	KEGG
hsa01100	Metabolic pathways	KEGG
hsa04727	GABAergic synapse	KEGG

Phenotype

ensgID	Trait	pValue	Pubmed ID
ENSG00000171723	Blood Pressure	1.82739188185899E-5	17903302
ENSG00000171723	Blood Pressure	6.69140255928902E-5	17903302
ENSG00000171723	Echocardiography	4.90727159327964E-5	17903301
ENSG00000171723	Echocardiography	8.60119811645355E-5	17903301
ENSG00000171723	Body Height	9.9290000E-005	-
ENSG00000171723	Platelet Function Tests	4.4408920E-016	-
ENSG00000171723	Breast Neoplasms	8.1450000E-006	-
ENSG00000171723	Breast Neoplasms	2.6510000E-005	-
ENSG00000171723	Breast Neoplasms	6.5970000E-005	-
ENSG00000171723	Breast Neoplasms	3.0460000E-005	-
ENSG00000171723	Breast Neoplasms	4.0670000E-006	-
ENSG00000171723	Gait	2E-7	26219847
ENSG00000171723	Depressive Disorder	3E-6	23290196

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000171723	rs146647518	14	67062903	A	Tandem gait	26219847	[5.12-11.24] unit increase	8.183	EFO_0007680
ENSG00000171723	rs8020095	14	66987141	A	Depression (quantitative trait)	23290196			EFO_0003761
ENSG00000171723	rs17103572	14	66519254	?	Adolescent idiopathic scoliosis	30019117			EFO_0005423

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000171723's network

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Paralog	Gene Symbol	Coverage	Identiy	Species
ENSG00000171723	GPHN	100	98.446	ENSMUSG00000047454	Gphn	100	98.446	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0005515	protein binding	21094642.26613940.27173435.	IPI	Function
GO:0005524	ATP binding	-	IEA	Function
GO:0005737	cytoplasm	21873635.	IBA	Component
GO:0005829	cytosol	21873635.	IBA	Component
GO:0005856	cytoskeleton	-	IEA	Component
GO:0005886	plasma membrane	-	TAS	Component
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	21873635.	IBA	Process
GO:0007529	establishment of synaptic specificity at neuromuscular junction	21873635.	IBA	Process
GO:0008940	nitrate reductase activity	9990024.	IMP	Function
GO:0010038	response to metal ion	9990024.	IMP	Process
GO:0014069	postsynaptic density	-	ISS	Component
GO:0018315	molybdenum incorporation into molybdenum-molybdopterin complex	21873635.	IBA	Process
GO:0030054	cell junction	-	IEA	Component
GO:0030425	dendrite	21873635.	IBA	Component
GO:0030425	dendrite	26613940.	IDA	Component
GO:0032324	molybdopterin cofactor biosynthetic process	21873635.	IBA	Process
GO:0032324	molybdopterin cofactor biosynthetic process	26613940.	IDA	Process
GO:0032324	molybdopterin cofactor biosynthetic process	9990024.	IMP	Process
GO:0032324	molybdopterin cofactor biosynthetic process	-	TAS	Process
GO:0043546	molybdopterin cofactor binding	9990024.	IDA	Function
GO:0045211	postsynaptic membrane	21873635.	IBA	Component
GO:0045211	postsynaptic membrane	26613940.	IDA	Component
GO:0046872	metal ion binding	-	IEA	Function
GO:0055114	oxidation-reduction process	-	IEA	Process
GO:0061598	molybdopterin adenylyltransferase activity	21873635.	IBA	Function
GO:0061599	molybdopterin molybdotransferase activity	21873635.	IBA	Function
GO:0072579	glycine receptor clustering	21873635.	IBA	Process
GO:0097112	gamma-aminobutyric acid receptor clustering	21873635.	IBA	Process
GO:0097112	gamma-aminobutyric acid receptor clustering	26613940.	IDA	Process
GO:0098970	postsynaptic neurotransmitter receptor diffusion trapping	21873635.	IBA	Process
GO:0099572	postsynaptic specialization	21873635.	IBA	Component
GO:0099634	postsynaptic specialization membrane	-	IEA	Component

EuRBPDB

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Description

RBPome

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GWAS

PPI

Ortholog

Gene Ontology

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