AutismKB 2.0

Evidence Details for CACNA1S


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Basic Information Top
Gene Symbol:CACNA1S ( CACNL1A3,CCHL1A3,Cav1.1,HOKPP,HOKPP1,MHS5,TTPP1,hypoPP )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1S subunit
Band: 1q32.1
Quick LinksEntrez ID:779; OMIM: 114208; Uniprot ID:CAC1S_HUMAN; ENSEMBL ID: ENSG00000081248; HGNC ID: 1397
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CACNA1S|779|nucleotide
ATGGAGCCATCCTCACCCCAGGATGAAGGCCTGAGGAAGAAACAGCCCAAGAAGCCAGTTCCTGAGATTCTGCCAAGGCCACCCCGGGCCTTGTTCTGCCTGACC
CTGGAGAACCCCCTGAGGAAGGCCTGCATCAGCATTGTAGAATGGAAGCCCTTCGAGACGATCATCTTGCTCACCATCTTTGCCAATTGTGTGGCCCTGGCCGTG
TACCTGCCCATGCCGGAAGATGACAACAACTCTCTGAACCTCGGCCTGGAGAAGCTGGAGTATTTCTTCCTCATTGTCTTCTCGATTGAAGCCGCCATGAAGATC
ATTGCCTACGGCTTCTTATTCCACCAGGACGCTTACCTGCGCAGTGGCTGGAATGTGCTGGACTTCACCATTGTCTTCCTGGGGGTCTTCACCGTGATTCTGGAA
CAGGTTAACGTCATCCAAAGCCACACAGCCCCAATGAGCAGCAAAGGAGCCGGCTTGGATGTCAAGGCCCTCAGAGCCTTCCGAGTGCTCAGACCCCTCCGGCTG
GTGTCGGGGGTGCCTAGCCTGCAGGTGGTCCTGAACTCCATCTTCAAGGCCATGCTCCCCCTCTTTCACATCGCCCTGCTGGTCCTCTTTATGGTCATCATCTAT
GCCATCATCGGGCTGGAGCTCTTCAAGGGCAAGATGCACAAGACCTGCTACTTCATTGGTACAGATATCGTGGCCACGGTGGAGAATGAAGAGCCATCGCCCTGC
GCCAGGACGGGCTCAGGGCGCCGGTGCACCATCAATGGCAGTGAGTGCCGGGGCGGCTGGCCAGGGCCCAACCATGGCATCACCCACTTCGACAACTTCGGCTTC
TCCATGCTCACCGTGTACCAGTGCATTACCATGGAGGGATGGACTGACGTCCTTTACTGGGTCAATGATGCCATCGGGAATGAGTGGCCCTGGATCTATTTTGTC
ACCCTCATTTTGCTGGGATCCTTCTTCATCCTCAACCTGGTGCTGGGTGTCCTGAGTGGGGAATTCACCAAGGAGCGGGAGAAGGCCAAGTCCAGGGGAACCTTC
CAGAAGCTCCGGGAGAAGCAGCAACTAGATGAGGACCTTCGGGGCTACATGAGCTGGATCACGCAGGGCGAGGTCATGGATGTTGAGGACTTCAGAGAAGGAAAA
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>CACNA1S|779|protein
MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLTIFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKI
IAYGFLFHQDAYLRSGWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVPSLQVVLNSIFKAMLPLFHIALLVLFMVIIY
AIIGLELFKGKMHKTCYFIGTDIVATVENEEPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYWVNDAIGNEWPWIYFV
TLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLDEDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI
FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEMLMKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGIS
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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) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top