Detailed information for CACNA1F
Basic information
| Official symbol | CACNA1F |
|---|---|
| Official full name | calcium channel, voltage-dependent, L type, alpha 1F subunit |
| Location | Xp11.23 |
| Gene type | protein-coding |
| Synonyms | AIED|COD3|COD4|CORDX|CORDX3|CSNB2|CSNB2A|CSNBX2|Cav1.4|JM8|JMC8|OA2 |
| Quick links | Entrez ID:778; HGNC:1393; MIM:300110; Ensembl:ENSG00000102001; HPRD:02119; Vega:OTTHUMG00000022703 |
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:0007601 | visual perception | 204 | 99 | 2.54 | 39.01 | 7.39e-144 | 4.34e-141 |
| 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:0060041 | retina development in camera-type eye | 105 | 31 | 1.31 | 23.73 | 1.13e-34 | 1.90e-32 |
| GO:0009583 | detection of light stimulus | 47 | 24 | 0.58 | 41.05 | 4.99e-34 | 7.32e-32 |
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0009582 | detection of abiotic stimulus | 83 | 27 | 1.03 | 26.15 | 1.40e-31 | 1.49e-29 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| GO:0009581 | detection of external stimulus | 100 | 27 | 1.24 | 21.70 | 4.42e-29 | 3.99e-27 |
| 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:0009584 | detection of visible light | 22 | 16 | 0.27 | 58.46 | 1.18e-26 | 7.70e-25 |
| GO:0043010 | camera-type eye development | 237 | 33 | 2.95 | 11.19 | 2.13e-25 | 1.25e-23 |
| 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:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0009314 | response to radiation | 319 | 29 | 3.97 | 7.31 | 3.46e-17 | 1.35e-15 |
| GO:0048646 | anatomical structure formation involved in morphogenesis | 1594 | 62 | 19.83 | 3.13 | 4.32e-17 | 1.64e-15 |
| GO:0009653 | anatomical structure morphogenesis | 2055 | 70 | 25.56 | 2.74 | 1.99e-16 | 7.08e-15 |
| 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:0000902 | cell morphogenesis | 945 | 42 | 11.76 | 3.57 | 2.49e-13 | 7.69e-12 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0044459 | plasma membrane part | 1918 | 41 | 20.92 | 1.96 | 1.68e-05 | 9.98e-05 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | KEGG | 74 | 3 | 0.33 | 9.01 | 0.0046 | 0.0158 |
| Hypertrophic cardiomyopathy (HCM) | KEGG | 83 | 3 | 0.37 | 8.04 | 0.0063 | 0.0168 |
| Dilated cardiomyopathy | KEGG | 90 | 3 | 0.40 | 7.41 | 0.0079 | 0.0190 |
| Arrhythmogenic right ventricular cardiomyopathy | WIKI | 108 | 3 | 0.49 | 6.18 | 0.0130 | 0.0357 |
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 |
|---|---|---|---|---|---|---|---|
| chrX | 49060522 | 49090833 | 300600 | Aland Island eye disease | 3 | 300110 | Xp11.23 |
| chrX | 49060522 | 49090833 | 300476 | "Cone-rod dystropy, X-linked, 3" | 3 | 300110 | Xp11.23 |
| chrX | 49060522 | 49090833 | 300071 | "Night blindness, congenital stationary (incomplete), 2A, X-linked" | 3 | 300110 | Xp11.23 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chrX | 49060522 | 49090833 | 778 | Cacna1f | MGI:1859639 | MP:0003012 | no phenotypic analysis |
| chrX | 49060522 | 49090833 | 778 | Cacna1f | MGI:1859639 | MP:0003631 | nervous system phenotype |
| chrX | 49060522 | 49090833 | 778 | Cacna1f | MGI:1859639 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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