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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 AHI1

Basic information

Official symbol	AHI1
Official full name	Abelson helper integration site 1
Location	6q23.3
Gene type	protein-coding
Synonyms	AHI-1\|JBTS3\|ORF1\|dJ71N10.1
Quick links	Entrez ID:54806; HGNC:21575; MIM:608894; Ensembl:ENSG00000135541; HPRD:10597; Vega:OTTHUMG00000015631

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: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:0060271	cilium morphogenesis	97	25	1.21	20.72	2.04e-26	1.26e-24
GO:0043010	camera-type eye development	237	33	2.95	11.19	2.13e-25	1.25e-23
GO:0042384	cilium assembly	75	21	0.93	22.51	3.56e-23	1.90e-21
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:0010927	cellular component assembly involved in morphogenesis	137	22	1.70	12.91	1.49e-18	6.03e-17
GO:0048646	anatomical structure formation involved in morphogenesis	1594	62	19.83	3.13	4.32e-17	1.64e-15
GO:0030031	cell projection assembly	204	24	2.54	9.46	6.34e-17	2.33e-15
GO:0009653	anatomical structure morphogenesis	2055	70	25.56	2.74	1.99e-16	7.08e-15
GO:0030030	cell projection organization	934	46	11.62	3.96	2.85e-16	9.84e-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:0000902	cell morphogenesis	945	42	11.76	3.57	2.49e-13	7.69e-12
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:0005932	microtubule basal body	66	20	0.72	27.78	5.27e-24	1.48e-22
GO:0044463	cell projection part	639	42	6.97	6.03	2.11e-21	5.17e-20
GO:0005815	microtubule organizing center	486	31	5.30	5.85	1.61e-15	2.87e-14
GO:0015630	microtubule cytoskeleton	863	37	9.41	3.93	5.76e-13	8.68e-12
GO:0005813	centrosome	376	22	4.10	5.36	1.49e-10	1.83e-09
GO:0044430	cytoskeletal part	1287	39	14.04	2.78	3.99e-09	3.91e-08
GO:0005856	cytoskeleton	1790	47	19.52	2.41	7.23e-09	6.16e-08
GO:0035869	ciliary transition zone	16	5	0.17	28.65	5.80e-07	4.55e-06
GO:0044450	microtubule organizing center part	94	9	1.03	8.78	8.63e-07	6.51e-06
GO:0005814	centriole	59	7	0.64	10.88	3.47e-06	2.52e-05
GO:0036038	TCTN-B9D complex	12	4	0.13	30.56	6.33e-06	4.00e-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

OMIM related

chromosome	begin	end	disorder MIM number	disorder	phene mapping key	gene/locus MIM number	cytogenetic loaction
chr6	135604109	135819903	608629	Joubert syndrome-3	3	608894	6q23.3

MGI related

chromosome	begin	end	gene ID	gene symbol of mouse	MGI	MP	phenotype description
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0003631	nervous system phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0005367	renal/urinary system phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0005376	homeostasis/metabolism phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0005378	growth/size phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0005384	cellular phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0005386	behavior/neurological phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0005387	immune system phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0005391	vision/eye phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0005395	other phenotype
chr6	135604109	135819903	54806	Ahi1	MGI:87971	MP:0010768	mortality/aging

Mutation spectrum

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Gene-disease network

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