AutismKB 2.0

Evidence Details for ABCA12


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Basic Information Top
Gene Symbol:ABCA12 ( DKFZp434G232,FLJ41584,ICR2B,LI2 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 12
Band: 2q35
Quick LinksEntrez ID:26154; OMIM: 607800; Uniprot ID:ABCAC_HUMAN; ENSEMBL ID: ENSG00000144452; HGNC ID: 14637
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABCA12|26154|nucleotide
ATGTTTACCTATATAAAAATTATTACTTCAGGTGACTCCGATAATATAACGCATGTGTGGAATGAGGATGATGGACAGACCTTATCTCCAAGCAGTCTGGCTGCA
CAGCTCCTAATTCTGGAAAACTTTGAAGATGCCCTCTTAAATATATCAGCAAATAGTCCTTATATTCCTTACTTGGCATGTGTGAGAAATGTGACTGACAGTTTG
GCCAGAGGTTCACCAGAAAATCTAAGACTCCTGCAGTCCACAATACGATTTAAAAAATCTTTTCTTCGCAATGGTTCCTATGAAGATTACTTTCCTCCAGTTCCT
GAAGTCCTAAAATCAAAACTGTCTCAACTTCGAAACTTGACCGAACTTCTTTGTGAATCTGAAACTTTCAGTTTGATAGAGAAGTCATGCCAGCTCTCTGATATG
AGCTTTGGGAGCCTGTGTGAAGAAAGTGAGTTTGATCTGCAACTCCTCGAAGCGGCAGAGCTGGGCACCGAAATAGCAGCCAGCTTACTGTACCATGACAATGTC
ATATCTAAAAAAGTGAGAGATTTGCTGACTGGAGATCCAAGCAAAATTAATTTAAATATGGATCAGTTTCTAGAACAGGCACTGCAAATGAATTACTTGGAAAAT
ATCACTCAGTTAATACCGATCATAGAAGCCATGCTGCATGTCAATAACAGTGCAGATGCTTCTGAAAAGCCAGGTCAGTTACTAGAAATGTTTAAAAATGTTGAA
GAGCTGAAAGAAGATTTAAGGAGAACAACAGGAATGTCCAACAGGACTATTGACAAGTTGCTGGCCATTCCCATCCCTGATAATAGAGCTGAGATTATTTCTCAG
GTGTTCTGGCTGCATTCCTGTGATACTAATATCACCACTCCCAAACTAGAAGATGCAATGAAAGAATTCTGCAACCTGTCTCTTTCAGAGAGATCCCGGCAGTCT
TACCTCATCGGACTCACCCTTCTGCACTACTTAAACATTTACAACTTCACATACAAGGTGTTTTTCCCGAGGAAAGATCAAAAGCCAGTAGAAAAGATGATGGAG
CTCTTCATAAGACTAAAAGAGATTCTCAATCAGATGGCTTCTGGCACACATCCGCTGCTAGACAAAATGAGATCCCTGAAGCAAATGCATCTGCCCAGAAGTGTT
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>ABCA12|26154|protein
MFTYIKIITSGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVP
EVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLEN
ITQLIPIIEAMLHVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNLSLSERSRQS
YLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEY
LTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQEWM
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (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
Pescucci, 2003 - STS mappingautism - - - - 1 - 1
Linkage Studies Top