AutismKB 2.0

Evidence Details for CACNA1F


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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 LinksEntrez 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
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>CACNA1F|778|protein
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFAN
CVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGFDVKALRAFRV
LRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECRGRWPGPNGGITNFDN
FFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRA
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Evidence summary Top

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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 Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMNight blindness, congenital stationary, X-linked, type 2A (300071)
DescriptionX-linked incomplete congenital stationary night blindness, severe form
Reference(s)15897456;
LevelLevel 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) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top