AutismKB 2.0

Evidence Details for CACNA1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CACNA1A ( APCA,CACNL1A4,CAV2.1,EA2,FHM,HPCA,MHP,MHP1,SCA6 )
Gene Full Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Band: 19p13.13
Quick LinksEntrez ID:773; OMIM: 601011; Uniprot ID:CAC1A_HUMAN; ENSEMBL ID: ENSG00000141837; HGNC ID: 1388
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CACNA1A|773|nucleotide
ATGGCCCGCTTCGGAGACGAGATGCCGGCCCGCTACGGGGGAGGAGGCTCCGGGGCAGCCGCCGGGGTGGTCGTGGGCAGCGGAGGCGGGCGAGGAGCCGGGGGC
AGCCGGCAGGGCGGGCAGCCCGGGGCGCAAAGGATGTACAAGCAGTCAATGGCGCAGAGAGCGCGGACCATGGCACTCTACAACCCCATCCCCGTCCGACAGAAC
TGCCTCACGGTTAACCGGTCTCTCTTCCTCTTCAGCGAAGACAACGTGGTGAGAAAATACGCCAAAAAGATCACCGAATGGCCTCCCTTTGAATATATGATTTTA
GCCACCATCATAGCGAATTGCATCGTCCTCGCACTGGAGCAGCATCTGCCTGATGATGACAAGACCCCGATGTCTGAACGGCTGGATGACACAGAACCATACTTC
ATTGGAATTTTTTGTTTCGAGGCTGGAATTAAAATCATTGCCCTTGGGTTTGCCTTCCACAAAGGCTCCTACTTGAGGAATGGCTGGAATGTCATGGACTTTGTG
GTGGTGCTAACGGGCATCTTGGCGACAGTTGGGACGGAGTTTGACCTACGGACGCTGAGGGCAGTTCGAGTGCTGCGGCCGCTCAAGCTGGTGTCTGGAATCCCA
AGTTTACAAGTCGTCCTGAAGTCGATCATGAAGGCGATGATCCCTTTGCTGCAGATCGGCCTCCTCCTATTTTTTGCAATCCTTATTTTTGCAATCATAGGGTTA
GAATTTTATATGGGAAAATTTCATACCACCTGCTTTGAAGAGGGGACAGATGACATTCAGGGTGAGTCTCCGGCTCCATGTGGGACAGAAGAGCCCGCCCGCACC
TGCCCCAATGGGACCAAATGTCAGCCCTACTGGGAAGGGCCCAACAACGGGATCACTCAGTTCGACAACATCCTGTTTGCAGTGCTGACTGTTTTCCAGTGCATA
ACCATGGAAGGGTGGACTGATCTCCTCTACAATAGCAACGATGCCTCAGGGAACACTTGGAACTGGTTGTACTTCATCCCCCTCATCATCATCGGCTCCTTTTTT
ATGCTGAACCTTGTGCTGGGTGTGCTGTCAGGGGAGTTTGCCAAAGAAAGGGAACGGGTGGAGAACCGGCGGGCTTTTCTGAAGCTGAGGCGGCAACAACAGATT
Show »

>CACNA1A|773|protein
MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMIL
ATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIP
SLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCI
TMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGA
LRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFI
Show »

Evidence summary Top

Click 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) No 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top