Quick Search:

Top 5 genes

Top 5 diseases

Data summary

Publications : 1001
Phenotypes : 178
Genes : 207
Mutations : 4631
SNVs : 3422
InDels : 1209
Last Update : 22/02/2019

Detailed information for RPGRIP1

Basic information

Official symbol	RPGRIP1
Official full name	retinitis pigmentosa GTPase regulator interacting protein 1
Location	14q11
Gene type	protein-coding
Synonyms	CORD13\|LCA6\|RGI1\|RGRIP\|RPGRIP\|RPGRIP1d
Quick links	Entrez ID:57096; HGNC:13436; MIM:605446; Ensembl:ENSG00000092200; HPRD:05673; Vega:OTTHUMG00000170758

GO related

GO term accession	GO term name	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-Value
GO:0050953	sensory perception of light stimulus	205	100	2.55	39.21	8.72e-146	1.02e-142
GO:0007601	visual perception	204	99	2.54	39.01	7.39e-144	4.34e-141
GO:0007600	sensory perception	495	103	6.16	16.73	4.54e-105	1.78e-102
GO:0050877	neurological system process	1237	106	15.39	6.89	1.82e-66	5.34e-64
GO:0003008	system process	1695	108	21.09	5.12	1.12e-54	2.63e-52
GO:0060041	retina development in camera-type eye	105	31	1.31	23.73	1.13e-34	1.90e-32
GO:0007423	sensory organ development	436	48	5.42	8.85	3.27e-32	3.84e-30
GO:0001654	eye development	276	39	3.43	11.36	3.01e-30	2.94e-28
GO:0044707	single-multicellular organism process	5612	143	69.81	2.05	9.21e-29	7.72e-27
GO:0032501	multicellular organismal process	5644	143	70.21	2.04	1.83e-28	1.43e-26
GO:0046530	photoreceptor cell differentiation	41	20	0.51	39.21	5.82e-28	4.27e-26
GO:0042461	photoreceptor cell development	30	18	0.37	48.23	1.64e-27	1.13e-25
GO:0043010	camera-type eye development	237	33	2.95	11.19	2.13e-25	1.25e-23
GO:0001754	eye photoreceptor cell differentiation	34	16	0.42	37.83	3.06e-22	1.50e-20
GO:0048592	eye morphogenesis	126	24	1.57	15.31	5.38e-22	2.53e-20
GO:0042462	eye photoreceptor cell development	25	14	0.31	45.02	5.07e-21	2.29e-19
GO:0044699	single-organism process	7682	152	95.57	1.59	9.26e-19	3.88e-17
GO:0048646	anatomical structure formation involved in morphogenesis	1594	62	19.83	3.13	4.32e-17	1.64e-15
GO:0009653	anatomical structure morphogenesis	2055	70	25.56	2.74	1.99e-16	7.08e-15
GO:0048856	anatomical structure development	4030	102	50.13	2.03	4.19e-16	1.33e-14
GO:0032502	developmental process	4572	104	56.88	1.83	3.53e-13	1.04e-11
GO:0005488	binding	11955	150	132.97	1.13	0.0005	0.0090
GO:0005515	protein binding	7337	102	81.61	1.25	0.0011	0.0149
GO:0005929	cilium	239	55	2.61	21.10	2.59e-58	5.08e-56
GO:0042995	cell projection	1230	67	13.42	4.99	5.15e-30	2.02e-28
GO:0044463	cell projection part	639	42	6.97	6.03	2.11e-21	5.17e-20
GO:0005930	axoneme	70	10	0.76	13.10	4.21e-09	3.93e-08

Pathway related

Term	Surce	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value

PPI related

ID	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value

OMIM related

chromosome	begin	end	disorder MIM number	disorder	phene mapping key	gene/locus MIM number	cytogenetic loaction
chr14	21755135	21820460	608194	Cone-rod dystrophy 13	3	605446	14q11.2
chr14	21755135	21820460	613826	Leber congenital amaurosis 6	3	605446	14q11.2

MGI related

chromosome	begin	end	gene ID	gene symbol of mouse	MGI	MP	phenotype description
chr14	21755135	21820460	57096	Rpgrip1	MGI:1932134	MP:0003631	nervous system phenotype
chr14	21755135	21820460	57096	Rpgrip1	MGI:1932134	MP:0005391	vision/eye phenotype

Mutation spectrum

If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.

Gene-disease network

If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.

Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.