AutismKB 2.0

Evidence Details for CACNB1


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Basic Information Top
Gene Symbol:CACNB1 ( CAB1,CACNLB1,CCHLB1,MGC41896 )
Gene Full Name: calcium channel, voltage-dependent, beta 1 subunit
Band: 17q12
Quick LinksEntrez ID:782; OMIM: 114207; Uniprot ID:CACB1_HUMAN; ENSEMBL ID: ENSG00000067191; HGNC ID: 1401
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CACNB1|782|nucleotide
ATGGTCCAGAAGACCAGCATGTCCCGGGGCCCTTACCCACCCTCCCAGGAGATCCCCATGGAGGTCTTCGACCCCAGCCCGCAGGGCAAATACAGCAAGAGGAAA
GGGCGATTCAAACGGTCAGATGGGAGCACGTCCTCGGATACCACATCCAACAGCTTTGTCCGCCAGGGCTCAGCGGAGTCCTACACCAGCCGTCCATCAGACTCT
GATGTATCTCTGGAGGAGGACCGGGAAGCCTTAAGGAAGGAAGCAGAGCGCCAGGCATTAGCGCAGCTCGAGAAGGCCAAGACCAAGCCAGTGGCATTTGCTGTG
CGGACAAATGTTGGCTACAATCCGTCTCCAGGGGATGAGGTGCCTGTGCAGGGAGTGGCCATCACCTTCGAGCCCAAAGACTTCCTGCACATCAAGGAGAAATAC
AATAATGACTGGTGGATCGGGCGGCTGGTGAAGGAGGGCTGTGAGGTTGGCTTCATTCCCAGCCCCGTCAAACTGGACAGCCTTCGCCTGCTGCAGGAACAGAAG
CTGCGCCAGAACCGCCTCGGCTCCAGCAAATCAGGCGATAACTCCAGTTCCAGTCTGGGAGATGTGGTGACTGGCACCCGCCGCCCCACACCCCCTGCCAGTGCC
AAACAGAAGCAGAAGTCGACAGAGCATGTGCCCCCCTATGACGTGGTGCCTTCCATGAGGCCCATCATCCTGGTGGGACCGTCGCTCAAGGGCTACGAGGTTACA
GACATGATGCAGAAAGCTTTATTTGACTTCTTGAAGCATCGGTTTGATGGCAGGATCTCCATCACTCGTGTGACGGCAGATATTTCCCTGGCTAAGCGCTCAGTT
CTCAACAACCCCAGCAAACACATCATCATTGAGCGCTCCAACACACGCTCCAGCCTGGCTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACC
CTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCTGAAATGTTT
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>CACNB1|782|protein
MVQKTSMSRGPYPPSQEIPMEVFDPSPQGKYSKRKGRFKRSDGSTSSDTTSNSFVRQGSAESYTSRPSDSDVSLEEDREALRKEAERQALAQLEKAKTKPVAFAV
RTNVGYNPSPGDEVPVQGVAITFEPKDFLHIKEKYNNDWWIGRLVKEGCEVGFIPSPVKLDSLRLLQEQKLRQNRLGSSKSGDNSSSSLGDVVTGTRRPTPPASA
KQKQKSTEHVPPYDVVPSMRPIILVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKHIIIERSNTRSSLAEVQSEIERIFELART
LQLVALDADTINHPAQLSKTSLAPIIVYIKITSPKVLQRLIKSRGKSQSKHLNVQIAASEKLAQCPPEMFDIILDENQLEDACEHLAEYLEAYWKATHPPSSTPP
NPLLNRTMATAALAASPAPVSNLQGPYLASGDQPLERATGEHASMHEYPGELGQPPGLYPSSHPPGRAGTLRALSRQDTFDADTPGSRNSAYTELGDSCVDMETD
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top