Detailed information for ELOVL4
Basic information
| Official symbol | ELOVL4 |
|---|---|
| Official full name | ELOVL fatty acid elongase 4 |
| Location | 6q14 |
| Gene type | protein-coding |
| Synonyms | ADMD|CT118|ISQMR|STGD2|STGD3 |
| Quick links | Entrez ID:6785; HGNC:14415; MIM:605512; Ensembl:ENSG00000118402; HPRD:05697; Vega:OTTHUMG00000015087 |
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:0009583 | detection of light stimulus | 47 | 24 | 0.58 | 41.05 | 4.99e-34 | 7.32e-32 |
| GO:0009582 | detection of abiotic stimulus | 83 | 27 | 1.03 | 26.15 | 1.40e-31 | 1.49e-29 |
| GO:0009581 | detection of external stimulus | 100 | 27 | 1.24 | 21.70 | 4.42e-29 | 3.99e-27 |
| GO:0009584 | detection of visible light | 22 | 16 | 0.27 | 58.46 | 1.18e-26 | 7.70e-25 |
| GO:0009416 | response to light stimulus | 203 | 29 | 2.53 | 11.48 | 1.06e-22 | 5.41e-21 |
| GO:0051606 | detection of stimulus | 202 | 27 | 2.51 | 10.74 | 2.10e-20 | 9.13e-19 |
| GO:0009314 | response to radiation | 319 | 29 | 3.97 | 7.31 | 3.46e-17 | 1.35e-15 |
| GO:0009881 | photoreceptor activity | 15 | 6 | 0.17 | 35.96 | 7.98e-09 | 8.66e-07 |
| GO:0008020 | G-protein coupled photoreceptor activity | 6 | 3 | 0.07 | 44.95 | 2.64e-05 | 0.0008 |
| 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 |
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 |
|---|---|---|---|---|---|---|---|
| chr6 | 80623528 | 80658315 | 614457 | "Ichthyosis, spastic quadriplegia, and mental retardation" | 3 | 605512 | 6q14.1 |
| chr6 | 80623528 | 80658315 | 600110 | "Macular dystrophy, autosomal dominant, chromosome 6-linked" | 3 | 605512 | 6q14.1 |
| chr6 | 80623528 | 80658315 | 600110 | Stargardt disease 3 | 3 | 605512 | 6q14.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0001186 | pigmentation phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0003631 | nervous system phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0005371 | limbs/digits/tail phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0005376 | homeostasis/metabolism phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0005378 | growth/size phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0005386 | behavior/neurological phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0005389 | reproductive system phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0005391 | vision/eye phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0005397 | hematopoietic system phenotype |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0010768 | mortality/aging |
| chr6 | 80623528 | 80658315 | 6785 | Elovl4 | MGI:1933331 | MP:0010771 | integument phenotype |
Mutation spectrum
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Gene-disease network
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