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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 PDE6C

Basic information

Official symbol	PDE6C
Official full name	phosphodiesterase 6C, cGMP-specific, cone, alpha prime
Location	10q24
Gene type	protein-coding
Synonyms	ACHM5\|COD4\|PDEA2
Quick links	Entrez ID:5146; HGNC:8787; MIM:600827; Ensembl:ENSG00000095464; HPRD:02898; Vega:OTTHUMG00000018775

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:0009583	detection of light stimulus	47	24	0.58	41.05	4.99e-34	7.32e-32
GO:0007423	sensory organ development	436	48	5.42	8.85	3.27e-32	3.84e-30
GO:0009582	detection of abiotic stimulus	83	27	1.03	26.15	1.40e-31	1.49e-29
GO:0001654	eye development	276	39	3.43	11.36	3.01e-30	2.94e-28
GO:0009581	detection of external stimulus	100	27	1.24	21.70	4.42e-29	3.99e-27
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:0009584	detection of visible light	22	16	0.27	58.46	1.18e-26	7.70e-25
GO:0043010	camera-type eye development	237	33	2.95	11.19	2.13e-25	1.25e-23
GO:0007602	phototransduction	37	18	0.46	39.11	3.11e-25	1.74e-23
GO:0009416	response to light stimulus	203	29	2.53	11.48	1.06e-22	5.41e-21
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:0051606	detection of stimulus	202	27	2.51	10.74	2.10e-20	9.13e-19
GO:0044699	single-organism process	7682	152	95.57	1.59	9.26e-19	3.88e-17
GO:0009314	response to radiation	319	29	3.97	7.31	3.46e-17	1.35e-15
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:0007603	phototransduction, visible light	11	9	0.14	65.77	3.15e-16	1.03e-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:0030553	cGMP binding	12	6	0.13	44.95	1.52e-09	3.30e-07
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	10	5	0.11	44.95	3.87e-08	2.80e-06
GO:0030551	cyclic nucleotide binding	28	6	0.31	19.27	5.33e-07	2.89e-05
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	24	5	0.27	18.73	5.75e-06	0.0002
GO:0004112	cyclic-nucleotide phosphodiesterase activity	25	5	0.28	17.98	7.12e-06	0.0003
GO:0032561	guanyl ribonucleotide binding	392	13	4.36	2.98	0.0004	0.0079
GO:0019001	guanyl nucleotide binding	392	13	4.36	2.98	0.0004	0.0079
GO:0005488	binding	11955	150	132.97	1.13	0.0005	0.0090
GO:0008081	phosphoric diester hydrolase activity	95	5	1.06	4.73	0.0042	0.0304
GO:0043168	anion binding	2402	40	26.72	1.50	0.0048	0.0336

Pathway related

Term	Surce	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value
Visual signal transduction: Cones	Pathway commons	23	15	0.10	144.98	1.71e-30	8.81e-29
Purine metabolism	KEGG	162	7	0.73	9.61	9.46e-06	0.0001

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
chr10	95371344	95426429	613093	Cone dystrophy 4	3	600827	10q23.33

MGI related

chromosome	begin	end	gene ID	gene symbol of mouse	MGI	MP	phenotype description
chr10	95371344	95426429	5146	Pde6c	MGI:105956	MP:0003631	nervous system phenotype
chr10	95371344	95426429	5146	Pde6c	MGI:105956	MP:0005391	vision/eye phenotype

Mutation spectrum

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Gene-disease network

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