Detailed information for CEP290
Basic information
| Official symbol | CERKL |
|---|---|
| Official full name | ceramide kinase-like |
| Location | 2q31.3 |
| Gene type | protein-coding |
| Synonyms | RP26 |
| Quick links | Entrez ID:375298; HGNC:21699; MIM:608381; Ensembl:ENSG00000188452; HPRD:09757; Vega:OTTHUMG00000154315 |
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: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 |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr2 | 182400400 | 182522834 | 608380 | Retinitis pigmentosa 26 | 3 | 608381 | 2q31.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr2 | 182400400 | 182522834 | 375298 | Cerkl | MGI:3037816 | MP:0005384 | cellular phenotype |
| chr2 | 182400400 | 182522834 | 375298 | Cerkl | MGI:3037816 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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