AutismKB 2.0

Evidence Details for PABPC1L


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Basic Information Top
Gene Symbol:PABPC1L ( C20orf119,FLJ11840,FLJ30809,FLJ42053,PABPC1L1,dJ1069P2.3,ePAB )
Gene Full Name: poly(A) binding protein, cytoplasmic 1-like
Band: 20q13.12
Quick LinksEntrez ID:80336; OMIM: NA; Uniprot ID:PAP1L_HUMAN; ENSEMBL ID: ENSG00000101104; HGNC ID: 15797
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PABPC1L|80336|nucleotide
ATGAACGCCAGCGGTTCTGGCTACCCGCTTGCCTCGCTTTACGTGGGCGATCTGCACCCCGACGTGACCGAGGCCATGCTCTATGAGAAGTTCTCTCCCGCCGGC
CCCATCCTGTCCATCCGCGTGTGCCGCGATGTAGCCACCCGGCGCTCGCTGGGCTACGCCTACATCAACTTCCAGCAGCCCGCGGACGCGGAGCGGGCACTGGAC
ACAATGAACTTTGAGATGCTCAAAGGCCAGCCTATTCGCATCATGTGGTCCCAGCGAGACCCAGGACTTCGCAAGTCAGGTGTGGGCAACATCTTCATCAAGAAC
CTGGAGGACTCCATTGACAACAAGGCTTTATATGATACCTTCTCCACCTTTGGGAACATCCTCTCTTGCAAGGTGGCGTGTGACGAGCATGGCTCCCGGGGTTTC
GGCTTTGTCCATTTTGAGACCCATGAGGCCGCACAGCAGGCCATCAACACCATGAATGGGATGCTGCTGAATGACCGCAAAGTCTTTGTGGGTCACTTCAAGTCT
CGACGGGAGCGGGAGGCGGAGCTGGGGGCGCGGGCCCTGGAGTTCACCAACATCTACGTGAAGAACCTCCCGGTGGATGTGGACGAGCAAGGCCTGCAGGACCTC
TTCTCCCAGTTTGGGAAAATGCTGAGTGTGAAGGTGATGAGGGACAACAGCGGCCACTCGCGGTGCTTTGGCTTTGTCAACTTTGAGAAGCATGAGGAAGCCCAG
AAGGCCGTGGTCCATATGAACGGGAAGGAGGTGAGCGGGCGGCTGCTGTACGCGGGCCGGGCCCAAAAGCGCGTGGAGCGGCAGAATGAACTGAAGCGCAGGTTT
GAGCAGATGAAGCAGGACCGGCTGAGGCGTTACCAGGGTGTGAACTTGTATGTGAAGAATCTGGACGACTCCATTGATGACGACAAACTGAGGAAAGAGTTCTCT
CCCTATGGAGTAATTACCAGTGCGAAGGTGATGACAGAGGGTGGCCACAGCAAGGGGTTTGGCTTTGTGTGTTTTTCCTCCCCAGAAGAGGCGACAAAGGCCGTG
ACAGAGATGAACGGGCGCATCGTGGGCACCAAGCCACTCTACGTGGCACTGGCCCAGCGCAAAGAGGAGCGGAAGGCCATCTTGACCAACCAGTACATGCAGCGC
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>PABPC1L|80336|protein
MNASGSGYPLASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCRDVATRRSLGYAYINFQQPADAERALDTMNFEMLKGQPIRIMWSQRDPGLRKSGVGNIFIKN
LEDSIDNKALYDTFSTFGNILSCKVACDEHGSRGFGFVHFETHEAAQQAINTMNGMLLNDRKVFVGHFKSRREREAELGARALEFTNIYVKNLPVDVDEQGLQDL
FSQFGKMLSVKVMRDNSGHSRCFGFVNFEKHEEAQKAVVHMNGKEVSGRLLYAGRAQKRVERQNELKRRFEQMKQDRLRRYQGVNLYVKNLDDSIDDDKLRKEFS
PYGVITSAKVMTEGGHSKGFGFVCFSSPEEATKAVTEMNGRIVGTKPLYVALAQRKEERKAILTNQYMQRLSTMRTLSNPLLGSFQQPSSYFLPAMPQPPAQAAY
YGCGPVTPTQPAPRWTSQPPRPSCASMVRPPVVPRRPPAHISSVRQASTQVPRTVPHTQRVANIGTQTTGPSGVGCCTPGRPLLPCKCSSAAHSTYRVQEPAVHI
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top