AutismKB 2.0

Evidence Details for ACBD3


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Basic Information Top
Gene Symbol:ACBD3 ( GCP60,GOCAP1,GOLPH1,PAP7 )
Gene Full Name: acyl-CoA binding domain containing 3
Band: 1q42.12
Quick LinksEntrez ID:64746; OMIM: 606809; Uniprot ID:GCP60_HUMAN; ENSEMBL ID: ENSG00000182827; HGNC ID: 15453
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACBD3|64746|nucleotide
ATGGCGGCGGTGCTGAACGCAGAGCGACTCGAGGTGTCCGTCGACGGCCTCACGCTCAGCCCGGACCCGGAGGAGCGGCCTGGGGCGGAGGGCGCCCCGCTGCTG
CCGCCACCGCTGCCACCGCCCTCGCCACCTGGATCCGGTCGCGGCCCGGGCGCCTCAGGGGAGCAGCCCGAGCCCGGGGAGGCGGCGGCTGGGGGCGCGGCGGAG
GAGGCGCGGCGGCTGGAGCAGCGCTGGGGTTTCGGCCTGGAGGAGTTGTACGGCCTGGCACTGCGCTTCTTCAAAGAAAAAGATGGCAAAGCATTTCATCCAACT
TATGAAGAAAAATTGAAGCTTGTGGCACTGCATAAGCAAGTTCTTATGGGCCCATATAATCCAGACACTTGTCCTGAGGTTGGATTCTTTGATGTGTTGGGGAAT
GACAGGAGGAGAGAATGGGCAGCCCTGGGAAACATGTCTAAAGAGGATGCCATGGTGGAGTTTGTCAAGCTCTTAAATAGGTGTTGCCATCTCTTTTCAACATAT
GTTGCGTCCCACAAAATAGAGAAGGAAGAGCAAGAAAAAAAAAGGAAGGAGGAAGAGGAGCGAAGGCGGCGTGAAGAGGAAGAAAGAGAACGTCTGCAAAAGGAG
GAAGAGAAACGTAGGAGAGAAGAAGAGGAAAGGCTTCGACGGGAGGAAGAGGAAAGGAGACGGATAGAAGAAGAAAGGCTTCGGTTGGAGCAGCAAAAGCAGCAG
ATAATGGCAGCTTTAAACTCCCAGACTGCCGTGCAGTTCCAGCAGTATGCAGCCCAACAGTATCCAGGGAACTACGAACAGCAGCAAATTCTCATCCGCCAGTTG
CAGGAGCAACACTATCAGCAGTACATGCAGCAGTTGTATCAAGTCCAGCTTGCACAGCAACAGGCAGCATTACAGAAACAACAGGAAGTAGTAGTGGCTGGGTCT
TCCTTGCCTACATCATCAAAAGTGAATGCAACTGTACCAAGTAATATGATGTCAGTTAATGGACAGGCCAAAACACACACTGACAGCTCCGAAAAAGAACTGGAA
CCAGAAGCTGCAGAAGAAGCCCTGGAGAATGGACCAAAAGAATCTCTTCCAGTAATAGCAGCTCCATCCATGTGGACACGACCTCAGATCAAAGACTTCAAAGAG
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>ACBD3|64746|protein
MAAVLNAERLEVSVDGLTLSPDPEERPGAEGAPLLPPPLPPPSPPGSGRGPGASGEQPEPGEAAAGGAAEEARRLEQRWGFGLEELYGLALRFFKEKDGKAFHPT
YEEKLKLVALHKQVLMGPYNPDTCPEVGFFDVLGNDRRREWAALGNMSKEDAMVEFVKLLNRCCHLFSTYVASHKIEKEEQEKKRKEEEERRRREEEERERLQKE
EEKRRREEEERLRREEEERRRIEEERLRLEQQKQQIMAALNSQTAVQFQQYAAQQYPGNYEQQQILIRQLQEQHYQQYMQQLYQVQLAQQQAALQKQQEVVVAGS
SLPTSSKVNATVPSNMMSVNGQAKTHTDSSEKELEPEAAEEALENGPKESLPVIAAPSMWTRPQIKDFKEKIQQDADSVITVGRGEVVTVRVPTHEEGSYLFWEF
ATDNYDIGFGVYFEWTDSPNTAVSVHVSESSDDDEEEEENIGCEEKAKKNANKPLLDEIVPVYRRDCHEEVYAGSHQYPGRGVYLLKFDNSYSLWRSKSVYYRVY
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top