Evidence Details for CACNA1F
Basic Information Top
| Gene Symbol: | CACNA1F ( AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,JM8,JMC8,OA2 ) |
|---|---|
| Gene Full Name: | calcium channel, voltage-dependent, L type, alpha 1F subunit |
| Band: | Xp11.23 |
| Quick Links | Entrez ID:778; OMIM: 300110; Uniprot ID:CAC1F_HUMAN; ENSEMBL ID: ENSG00000102001; HGNC ID: 1393 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CACNA1F|778|nucleotide
ATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTG
GAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGG
GCACTCTTCTGCCTCACCCTGGCCAATCCTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAAC
TGCGTGGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTG
GAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTG
TTCAGCGTTCTGCTGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTG
CTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATTCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTC
TTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACCCA
TCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTTTGACAAC
TTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTG
TACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTGGCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGC
Show »
ATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCAGGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTG
GAAGGTGAAAGCAGTGGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTGGCAGTGGCCAGTGCCCAGCGGTCACCTCGG
GCACTCTTCTGCCTCACCCTGGCCAATCCTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTGACCATCTTTGCCAAC
TGCGTGGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCCAACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTG
GAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGCAATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTG
TTCAGCGTTCTGCTGGAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTCGATGTGAAGGCATTGAGGGCGTTTCGGGTG
CTGCGGCCACTGAGGCTGGTGTCTGGGGTCCCGAGCCTGCACATAGTGCTCAATTCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATTGCACTGCTCGTGCTC
TTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTTGGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACCCA
TCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGCGGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTTTGACAAC
TTCTTCTTCGCCATGCTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAAGATGCCATGGGGTATGAACTGCCCTGGGTG
TACTTTGTGAGCCTTGTCATCTTTGGGTCCTTCTTCGTCCTCAACCTTGTGCTTGGCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAGAAAGCGAAAGCTCGC
Show »
>CACNA1F|778|protein
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFAN
CVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGFDVKALRAFRV
LRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECRGRWPGPNGGITNFDN
FFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRA
Show »
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFAN
CVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGFDVKALRAFRV
LRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECRGRWPGPNGGITNFDN
FFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRA
Show »
Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 0 (0) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Night blindness, congenital stationary, X-linked, type 2A (300071) |
| Description | X-linked incomplete congenital stationary night blindness, severe form |
| Reference(s) | 15897456; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Edens, 2011 | Austria | FISH, aCGH |  | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Chung, 2011 | - | SNP microarray | | | ASD | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.