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Data summary

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

Detailed information for PROM1

Basic information

Official symbol	PROM1
Official full name	prominin 1
Location	4p15.32
Gene type	protein-coding
Synonyms	AC133\|CD133\|CORD12\|MCDR2\|PROML1\|RP41\|STGD4
Quick links	Entrez ID:8842; HGNC:9454; MIM:604365; Ensembl:ENSG00000007062; HPRD:05079; Vega:OTTHUMG00000160180

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:0045494	photoreceptor cell maintenance	25	22	0.31	70.74	7.36e-40	1.44e-37
GO:0060041	retina development in camera-type eye	105	31	1.31	23.73	1.13e-34	1.90e-32
GO:0043954	cellular component maintenance	38	22	0.47	46.54	6.20e-33	8.09e-31
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: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: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:0060042	retina morphogenesis in camera-type eye	37	13	0.46	28.24	3.05e-16	1.02e-14
GO:0048856	anatomical structure development	4030	102	50.13	2.03	4.19e-16	1.33e-14
GO:0048593	camera-type eye morphogenesis	90	15	1.12	13.40	3.00e-13	9.03e-12
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:0031513	nonmotile primary cilium	80	32	0.87	36.67	1.40e-42	1.37e-40
GO:0072372	primary cilium	96	33	1.05	31.52	2.93e-41	1.91e-39
GO:0044441	cilium part	110	29	1.20	24.17	1.90e-32	9.31e-31
GO:0042995	cell projection	1230	67	13.42	4.99	5.15e-30	2.02e-28
GO:0001750	photoreceptor outer segment	37	19	0.40	47.08	3.03e-28	9.90e-27
GO:0044463	cell projection part	639	42	6.97	6.03	2.11e-21	5.17e-20
GO:0042622	photoreceptor outer segment membrane	8	6	0.09	68.76	4.27e-11	5.98e-10
GO:0032420	stereocilium	23	8	0.25	31.89	7.34e-11	9.59e-10
GO:0032421	stereocilium bundle	27	8	0.29	27.17	3.20e-10	3.48e-09
GO:0005902	microvillus	68	10	0.74	13.48	3.14e-09	3.24e-08
GO:0031253	cell projection membrane	187	11	2.04	5.39	6.65e-06	4.07e-05
GO:0044459	plasma membrane part	1918	41	20.92	1.96	1.68e-05	9.98e-05

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
Hsapiens_Module_213	17	3	0.17	17.18	0.0007	0.0046

OMIM related

chromosome	begin	end	disorder MIM number	disorder	phene mapping key	gene/locus MIM number	cytogenetic loaction
chr4	15968848	16078741	612657	Cone-rod dystrophy 12	3	604365	4p15.32
chr4	15968848	16078741	608051	"Macular dystrophy, retinal, 2"	3	604365	4p15.32
chr4	15968848	16078741	612095	Retinitis pigmentosa 41	3	604365	4p15.32
chr4	15968848	16078741	603786	Stargardt disease 4	3	604365	4p15.32

MGI related

chromosome	begin	end	gene ID	gene symbol of mouse	MGI	MP	phenotype description
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0001186	pigmentation phenotype
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0002006	tumorigenesis
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0002873	normal phenotype
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0003012	no phenotypic analysis
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0003631	nervous system phenotype
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0005378	growth/size phenotype
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0005384	cellular phenotype
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0005385	cardiovascular system phenotype
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0005386	behavior/neurological phenotype
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0005391	vision/eye phenotype
chr4	15968848	16078741	8842	Prom1	MGI:1100886	MP:0010768	mortality/aging

Mutation spectrum

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Gene-disease network

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