AutismKB 2.0

Evidence Details for CACNA2D3


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Basic Information Top
Gene Symbol:CACNA2D3 ( HSA272268 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 3
Band: 3p21.1-p14.3
Quick LinksEntrez ID:55799; OMIM: 606399; Uniprot ID:CA2D3_HUMAN; ENSEMBL ID: ENSG00000157445; HGNC ID: 15460
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CACNA2D3|55799|nucleotide
ATGGCCGGGCCGGGCTCGCCGCGCCGCGCGTCCCGGGGGGCCTCGGCGCTTCTCGCTGCCGCGCTTCTCTACGCCGCGCTGGGGGACGTGGTGCGCTCGGAGCAG
CAGATACCGCTCTCCGTGGTGAAGCTCTGGGCCTCGGCTTTTGGTGGGGAGATAAAATCCATTGCTGCTAAGTACTCCGGTTCCCAGCTTCTGCAAAAGAAATAC
AAAGAGTATGAGAAAGACGTTGCCATAGAAGAAATCGATGGCCTCCAACTGGTAAAGAAGCTGGCAAAGAACATGGAAGAGATGTTTCACAAGAAGTCTGAGGCC
GTCAGGCGTCTGGTGGAGGCTGCAGAAGAAGCACACCTGAAACATGAATTTGATGCAGACTTACAGTATGAATACTTCAATGCTGTGCTGATAAATGAAAGGGAC
AAAGACGGGAATTTTTTGGAGCTGGGAAAGGAATTCATCTTAGCCCCAAATGACCATTTTAATAATTTGCCTGTGAACATCAGTCTAAGTGACGTCCAAGTACCA
ACGAACATGTACAACAAAGACCCTGCAATTGTCAATGGGGTTTATTGGTCTGAATCTCTAAACAAAGTTTTTGTAGATAACTTTGACCGTGACCCATCTCTCATA
TGGCAGTACTTTGGAAGTGCAAAGGGCTTTTTTAGGCAGTATCCGGGGATTAAATGGGAACCAGATGAGAATGGAGTCATTGCCTTCGACTGCAGGAACCGAAAA
TGGTACATCCAGGCAGCAACTTCTCCGAAAGACGTGGTCATTTTAGTTGACGTCAGTGGCAGCATGAAAGGACTCCGTCTGACTATCGCGAAGCAAACAGTCTCA
TCCATTTTGGATACACTTGGGGATGATGACTTCTTCAACATAATTGCTTATAATGAGGAGCTTCACTATGTGGAACCTTGCCTGAATGGAACTTTGGTGCAAGCC
GACAGGACAAACAAAGAGCACTTCAGGGAGCATCTGGACAAACTTTTCGCCAAAGGAATTGGAATGTTGGATATAGCTCTGAATGAGGCCTTCAACATTCTGAGT
GATTTCAACCACACGGGACAAGGAAGTATCTGCAGTCAGGCCATCATGCTCATAACTGATGGGGCGGTGGACACCTATGATACAATCTTTGCAAAATACAATTGG
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>CACNA2D3|55799|protein
MAGPGSPRRASRGASALLAAALLYAALGDVVRSEQQIPLSVVKLWASAFGGEIKSIAAKYSGSQLLQKKYKEYEKDVAIEEIDGLQLVKKLAKNMEEMFHKKSEA
VRRLVEAAEEAHLKHEFDADLQYEYFNAVLINERDKDGNFLELGKEFILAPNDHFNNLPVNISLSDVQVPTNMYNKDPAIVNGVYWSESLNKVFVDNFDRDPSLI
WQYFGSAKGFFRQYPGIKWEPDENGVIAFDCRNRKWYIQAATSPKDVVILVDVSGSMKGLRLTIAKQTVSSILDTLGDDDFFNIIAYNEELHYVEPCLNGTLVQA
DRTNKEHFREHLDKLFAKGIGMLDIALNEAFNILSDFNHTGQGSICSQAIMLITDGAVDTYDTIFAKYNWPDRKVRIFTYLIGREAAFADNLKWMACANKGFFTQ
ISTLADVQENVMEYLHVLSRPKVIDQEHDVVWTEAYIDSTLPQAQKLTDDQGPVLMTTVAMPVFSKQNETRSKGILLGVVGTDVPVKELLKTIPKYKLGIHGYAF
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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) 1 (1) 0 (3) 0 (0) 0 (0) 0 (0) 1 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top