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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 OFD1

Basic information

Official symbol	OFD1
Official full name	oral-facial-digital syndrome 1
Location	Xp22
Gene type	protein-coding
Synonyms	71-7A\|CXorf5\|JBTS10\|RP23\|SGBS2
Quick links	Entrez ID:8481; HGNC:2567; MIM:300170; Ensembl:ENSG00000046651; HPRD:02162; Vega:OTTHUMG00000021159

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: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:0060271	cilium morphogenesis	97	25	1.21	20.72	2.04e-26	1.26e-24
GO:0042384	cilium assembly	75	21	0.93	22.51	3.56e-23	1.90e-21
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: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: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: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

Pathway related

Term	Surce	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value
Loss of Nlp from mitotic centrosomes	Pathway commons	61	6	0.27	21.87	3.47e-07	6.56e-06
Golgi Cisternae Pericentriolar Stack Reorganization	Pathway commons	62	6	0.28	21.51	3.82e-07	6.56e-06
Loss of proteins required for interphase microtubule organizationÃ from the centrosome	Pathway commons	61	6	0.27	21.87	3.47e-07	6.56e-06
Mitotic Prophase	Pathway commons	62	6	0.28	21.51	3.82e-07	6.56e-06
Centrosome maturation	Pathway commons	70	6	0.31	19.05	7.91e-07	1.02e-05
Recruitment of mitotic centrosome proteins and complexes	Pathway commons	70	6	0.31	19.05	7.91e-07	1.02e-05
G2/M Transition	Pathway commons	96	6	0.43	13.89	5.08e-06	5.23e-05
Mitotic G2-G2/M phases	Pathway commons	99	6	0.45	13.47	6.07e-06	5.68e-05
M Phase	Pathway commons	158	6	0.71	8.44	8.54e-05	0.0007
DNA Replication	Pathway commons	261	7	1.17	5.96	0.0002	0.0015
Cell Cycle, Mitotic	Pathway commons	318	7	1.43	4.89	0.0006	0.0041
Mitotic M-M/G1 phases	Pathway commons	242	6	1.09	5.51	0.0008	0.0052

PPI related

ID	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value
Hsapiens_Module_240	55	6	0.56	10.62	2.05e-05	0.0004

OMIM related

chromosome	begin	end	disorder MIM number	disorder	phene mapping key	gene/locus MIM number	cytogenetic loaction
chrX	13751831	13788480	300804	Joubert syndrome 10	3	300170	Xp22.2
chrX	13751831	13788480	311200	Oral-facial-digital syndrome 1	3	300170	Xp22.2
chrX	13751831	13788480	300209	"Simpson-Golabi-Behmel syndrome, type 2"	3	300170	Xp22.2

MGI related

chromosome	begin	end	gene ID	gene symbol of mouse	MGI	MP	phenotype description
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0003631	nervous system phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005367	renal/urinary system phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005371	limbs/digits/tail phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005378	growth/size phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005380	embryogenesis phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005381	digestive/alimentary phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005382	craniofacial phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005384	cellular phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005385	cardiovascular system phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005388	respiratory system phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0005390	skeleton phenotype
chrX	13751831	13788480	8481	Ofd1	MGI:1350328	MP:0010768	mortality/aging

Mutation spectrum

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Gene-disease network

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