Detailed information for PDZD7
Basic information
| Official symbol | PDZD7 |
|---|---|
| Official full name | PDZ domain containing 7 |
| Location | 10q24.31 |
| Gene type | protein-coding |
| Synonyms | PDZK7 |
| Quick links | Entrez ID:79955; HGNC:26257; MIM:612971; Ensembl:ENSG00000186862; HPRD:15114; Vega:OTTHUMG00000018916 |
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: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 |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr10 | 102776088 | 102791914 | 605472 | "Usher syndrome, type IIC, GPR98/PDZD7 digenic" | 3 | 612971 | 10q24.31 |
| chr10 | 102776088 | 102791914 | 276901 | "{Retinal disease in Usher syndrome type IIA, modifier of}" | 3 | 612971 | 10q24.31 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr10 | 102776088 | 102791914 | 79955 | Pdzd7 | MGI:3608325 | - | - |
Mutation spectrum
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Gene-disease network
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