Detailed information for CYP4V2
Basic information
| Official symbol | DFNB31 |
|---|---|
| Official full name | deafness, autosomal recessive 31 |
| Location | 9q32 |
| Gene type | protein-coding |
| Synonyms | CIP98|PDZD7B|USH2D|WHRN|WI |
| Quick links | Entrez ID:25861; HGNC:16361; MIM:607928; Ensembl:ENSG00000095397; HPRD:09718; Vega:OTTHUMG00000020539 |
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: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:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| 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: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: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:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
| GO:0044463 | cell projection part | 639 | 42 | 6.97 | 6.03 | 2.11e-21 | 5.17e-20 |
| GO:0032391 | photoreceptor connecting cilium | 23 | 12 | 0.25 | 47.83 | 2.41e-18 | 4.72e-17 |
| GO:0001917 | photoreceptor inner segment | 20 | 10 | 0.22 | 45.84 | 3.14e-15 | 5.13e-14 |
| 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:0002139 | stereocilia coupling link | 4 | 3 | 0.04 | 68.76 | 5.07e-06 | 3.31e-05 |
| GO:0002141 | stereocilia ankle link | 4 | 3 | 0.04 | 68.76 | 5.07e-06 | 3.31e-05 |
| GO:0002142 | stereocilia ankle link complex | 4 | 3 | 0.04 | 68.76 | 5.07e-06 | 3.31e-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 |
|---|---|---|---|---|---|---|---|
| chr9 | 117163359 | 117266495 | 607084 | "Deafness, autosomal recessive 31" | 3 | 607928 | 9q32 |
| chr9 | 117163359 | 117266495 | 611383 | "Usher syndrome, type 2D" | 3 | 607928 | 9q32 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0001186 | pigmentation phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0003631 | nervous system phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005367 | renal/urinary system phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005370 | liver/biliary system phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005375 | adipose tissue phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005376 | homeostasis/metabolism phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005378 | growth/size phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005385 | cardiovascular system phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005386 | behavior/neurological phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005387 | immune system phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005389 | reproductive system phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005391 | vision/eye phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0005397 | hematopoietic system phenotype |
| chr9 | 117163359 | 117266495 | 25861 | Whrn | MGI:2682003 | MP:0010771 | integument phenotype |
Mutation spectrum
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Gene-disease network
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