Detailed information for BBS12
Basic information
| Official symbol | BBS12 |
|---|---|
| Official full name | Bardet-Biedl syndrome 12 |
| Location | 4q27 |
| Gene type | protein-coding |
| Synonyms | C4orf24 |
| Quick links | Entrez ID:166379; HGNC:26648; MIM:610683; Ensembl:ENSG00000181004; HPRD:08759; Vega:OTTHUMG00000133070 |
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: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: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 |
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_43 | 17 | 11 | 0.17 | 63.01 | 1.13e-18 | 5.88e-17 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr4 | 123652856 | 123667098 | 209900 | Bardet-Biedl syndrome 12 | 3 | 610683 | 4q27 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0003631 | nervous system phenotype |
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0005367 | renal/urinary system phenotype |
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0005375 | adipose tissue phenotype |
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0005376 | homeostasis/metabolism phenotype |
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0005378 | growth/size phenotype |
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0005386 | behavior/neurological phenotype |
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0005387 | immune system phenotype |
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0005390 | skeleton phenotype |
| chr4 | 123652856 | 123667098 | 166379 | Bbs12 | MGI:2686651 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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