AutismKB 2.0

Evidence Details for ACSBG1


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Basic Information Top
Gene Symbol:ACSBG1 ( BG1,BGM,FLJ30320,GR-LACS,KIAA0631,MGC14352,hBG1,hsBG )
Gene Full Name: acyl-CoA synthetase bubblegum family member 1
Band: 15q25.1
Quick LinksEntrez ID:23205; OMIM: NA; Uniprot ID:ACBG1_HUMAN; ENSEMBL ID: ENSG00000103740; HGNC ID: 29567
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACSBG1|23205|nucleotide
ATGCCACGCAATTCTGGAGCTGGATACGGCTGCCCACACGGGGACCCCAGCATGCTGGACAGCAGAGAGACCCCACAGGAGAGCCGGCAGGACATGATTGTGAGG
ACCACCCAAGAAAAATTGAAAACCAGCTCACTGACTGACAGGCAGCCACTCTCCAAAGAGTCCCTGAACCATGCTCTCGAGCTCTCAGTGCCAGAGAAGGTGAAT
AATGCCCAGTGGGATGCTCCAGAGGAGGCGCTGTGGACGACTCGGGCCGATGGGCGGGTGCGCCTGCGCATAGACCCCAGCTGCCCACAGCTTCCCTACACTGTG
CATCGGATGTTCTACGAGGCCCTGGATAAGTATGGGGACCTCATCGCTTTGGGCTTCAAGCGCCAGGACAAGTGGGAACACATCTCCTACTCCCAATACTACCTG
CTCGCCCGCAGAGCCGCCAAGGGCTTCCTGAAGCAGGCCCACAGTGTGGCCATCCTCGGCTTCAACTCCCCGGAGTGGTTCTTCTCGGCAGTGGGCACAGTATTT
GCAGGTGGCATCGTCACTGGCATCTACACCACCAGCTCCCCAGAGGCCTGCCAGTACATCGCTTATGACTGCTGCGCCAATGTCATCATGGTCGACACGCAGAAG
CAGCTGGAAAAGATCCTGAAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGATG
GAGGAATTCATGGAGCTGGGGAATGAAGTGCCTGAGGAAGCCCTGGACGCCATCATTGACACCCAGCAGCCCAACCAGTGCTGTGTGCTAGTCTACACTTCCGGC
ACCACTGGGAACCCCAAGGGCGTGATGCTGAGTCAAGACAATATCACGTGGACGGCACGGTACGGCAGCCAGGCCGGTGACATCCGGCCGGCAGAAGTCCAGCAG
GAGGTGGTAGTCAGCTACCTGCCCCTCAGCCATATTGCCGCCCAGATCTACGACCTGTGGACAGGCATCCAGTGGGGGGCCCAGGTTTGCTTTGCCGAACCCGAC
GCCCTGAAGGGGAGCCTGGTGAACACGCTGCGGGAGGTGGAGCCCACATCACACATGGGGGTGCCCCGGGTATGGGAGAAGATCATGGAGCGCATCCAGGAGGTG
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>ACSBG1|23205|protein
MPRNSGAGYGCPHGDPSMLDSRETPQESRQDMIVRTTQEKLKTSSLTDRQPLSKESLNHALELSVPEKVNNAQWDAPEEALWTTRADGRVRLRIDPSCPQLPYTV
HRMFYEALDKYGDLIALGFKRQDKWEHISYSQYYLLARRAAKGFLKQAHSVAILGFNSPEWFFSAVGTVFAGGIVTGIYTTSSPEACQYIAYDCCANVIMVDTQK
QLEKILKIWKQLPHLKAVVIYKEPPPNKMANVYTMEEFMELGNEVPEEALDAIIDTQQPNQCCVLVYTSGTTGNPKGVMLSQDNITWTARYGSQAGDIRPAEVQQ
EVVVSYLPLSHIAAQIYDLWTGIQWGAQVCFAEPDALKGSLVNTLREVEPTSHMGVPRVWEKIMERIQEVAAQSGFIRRKMLLWAMSVTLEQNLTCPGSDLKPFT
TRLADYLVLAKVRQALGFAKCQKNFYGAAPMMAETQHFFLGLNIRLYAGYGLSETSGPHFMSSPYNYRLYSSGKLVPGCRVKLVNQDAEGIGEICLWGRTIFMGY
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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) 1 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top