Detailed information for OPA3
Basic information
| Official symbol | OPA3 |
|---|---|
| Official full name | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
| Location | 19q13.32 |
| Gene type | protein-coding |
| Synonyms | MGA3 |
| Quick links | Entrez ID:80207; HGNC:8142; MIM:606580; Ensembl:ENSG00000125741; HPRD:05956; Vega:OTTHUMG00000182125 |
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 |
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_26 | 697 | 16 | 7.16 | 2.24 | 0.0022 | 0.0114 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr19 | 46030024 | 46089122 | 258501 | "3-methylglutaconic aciduria, type III" | 3 | 606580 | 19q13.32 |
| chr19 | 46030024 | 46089122 | 165300 | Optic atrophy 3 with cataract | 3 | 606580 | 19q13.32 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0003631 | nervous system phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005369 | muscle phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005370 | liver/biliary system phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005375 | adipose tissue phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005376 | homeostasis/metabolism phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005378 | growth/size phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005382 | craniofacial phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005384 | cellular phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005385 | cardiovascular system phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005386 | behavior/neurological phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005390 | skeleton phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0005391 | vision/eye phenotype |
| chr19 | 46030024 | 46089122 | 80207 | Opa3 | MGI:2686271 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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