Detailed information for OPA1
Basic information
| Official symbol | OPA1 |
|---|---|
| Official full name | optic atrophy 1 (autosomal dominant) |
| Location | 3q28-q29 |
| Gene type | protein-coding |
| Synonyms | MGM1|NPG|NTG|largeG |
| Quick links | Entrez ID:4976; HGNC:8140; MIM:605290; Ensembl:ENSG00000198836; HPRD:05596; Vega:OTTHUMG00000149897 |
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: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: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: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:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0043168 | anion binding | 2402 | 40 | 26.72 | 1.50 | 0.0048 | 0.0336 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
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 |
|---|---|---|---|---|---|---|---|
| chr3 | 193309932 | 193416600 | 165500 | Optic atrophy 1 | 3 | 605290 | 3q29 |
| chr3 | 193309932 | 193416600 | 125250 | "Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" | 3 | 605290 | 3q29 |
| chr3 | 193309932 | 193416600 | 606657 | "{Glaucoma, normal tension, susceptibility to}" | 3 | 605290 | 3q29 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0003631 | nervous system phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005369 | muscle phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005375 | adipose tissue phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005376 | homeostasis/metabolism phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005378 | growth/size phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005380 | embryogenesis phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005382 | craniofacial phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005384 | cellular phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005385 | cardiovascular system phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005386 | behavior/neurological phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005389 | reproductive system phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0005391 | vision/eye phenotype |
| chr3 | 193309932 | 193416600 | 4976 | Opa1 | MGI:1921393 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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