AutismKB 2.0

Evidence Details for ACTC1


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Basic Information Top
Gene Symbol:ACTC1 ( ACTC,ASD5,CMD1R,CMH11,LVNC4 )
Gene Full Name: actin, alpha, cardiac muscle 1
Band: 15q14
Quick LinksEntrez ID:70; OMIM: 102540; Uniprot ID:ACTC_HUMAN; ENSEMBL ID: ENSG00000159251; HGNC ID: 143
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACTC1|70|nucleotide
ATGTGTGACGACGAGGAGACCACCGCCCTGGTGTGCGACAACGGCTCTGGGCTGGTGAAGGCCGGCTTTGCGGGCGATGACGCGCCCCGCGCTGTCTTCCCGTCC
ATCGTGGGCCGCCCGCGGCACCAGGGAGTTATGGTGGGTATGGGTCAGAAGGACTCCTACGTAGGTGATGAAGCCCAGAGCAAGAGAGGCATCCTGACCCTGAAG
TATCCCATCGAGCATGGTATCATCACCAACTGGGACGACATGGAGAAGATCTGGCACCACACCTTCTACAATGAGCTCCGTGTGGCTCCCGAGGAGCACCCCACC
CTGCTCACAGAGGCCCCGCTGAACCCCAAGGCCAACCGGGAGAAGATGACTCAGATCATGTTTGAGACCTTCAATGTCCCTGCCATGTACGTGGCCATCCAGGCA
GTGCTATCCCTGTATGCTTCTGGCCGTACCACAGGCATTGTTCTGGACTCTGGGGATGGTGTAACTCACAATGTCCCCATCTATGAGGGCTACGCTTTGCCCCAT
GCCATCATGCGTCTGGATCTGGCTGGTCGGGACCTCACTGACTACCTCATGAAGATCCTCACTGAGCGTGGCTACTCCTTTGTCACCACTGCTGAACGTGAAATT
GTCCGTGACATTAAAGAGAAGCTGTGCTATGTCGCCCTGGATTTTGAGAATGAGATGGCCACAGCTGCCTCTTCCTCCTCCCTGGAGAAGAGCTATGAACTGCCT
GATGGCCAAGTCATCACTATTGGCAATGAGCGCTTCCGCTGTCCTGAGACACTCTTCCAGCCCTCCTTCATTGGTATGGAATCTGCTGGCATCCATGAAACAACT
TACAATAGCATCATGAAGTGTGACATTGATATCCGCAAGGACCTGTATGCCAACAATGTCTTATCTGGAGGCACCACTATGTACCCTGGTATTGCTGATCGTATG
CAGAAGGAAATCACTGCTCTGGCTCCTAGCACCATGAAGATTAAGATTATTGCTCCCCCTGAGCGTAAATACTCTGTCTGGATTGGGGGCTCCATCCTGGCCTCT
CTGTCCACCTTCCAGCAAATGTGGATTAGCAAGCAAGAGTACGATGAGGCAGGCCCATCCATTGTCCACCGCAAATGCTTCTAA
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>ACTC1|70|protein
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPT
LLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREI
VRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRM
QKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF

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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 (1) 1 (3) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 3 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top