AutismKB 2.0

Evidence Details for PABPC4L


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Basic Information Top
Gene Symbol:PABPC4L ( DKFZp686J06116 )
Gene Full Name: poly(A) binding protein, cytoplasmic 4-like
Band: 4q28.3
Quick LinksEntrez ID:132430; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000250177; HGNC ID: 31955
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PABPC4L|132430|nucleotide
ATGAGGGTGTTGCCTGAGCTGGGGGAGTCGTGTCTGAACTCCATTGCTTGGCCTTTGTGTGGTGATCCCGAGGCCTCCACACTTGAACCGGGCCAAAGCTGTGAC
CTAGTATCCCCCCACAGGGATTGCTCAAAGAACTCCAGGGGACAAACTCACAGTGGCAAGGACAAGGAGATGAATGTAGCAGCCAAGTACCGCATGGCCTCCCTG
TATGTGGGTGACTTACATGCAGATGTCACCGAGGACCTGCTGTTCAGGAAGTTCAGCACTGTGGGGCCTGTGCTGTCCATCCGCATTTGCAGGGACCAGGTCACC
CGCCGCTCTCTGGGCTATGCCTACGTGAACTTCTTGCAGCTGGCTGATGCCCAGAAGGCGCTGGACACAATGAACTTTGACATCATAAAAGGCAAATCCATCCGT
CTCATGTGGTCTCAGCGCGATGCCTACTTGAGGAGATCTGGAATTGGGAACGTATTCATCAAGAATCTGGACAAATCTATCGATAACAAAACCCTTTATGAACAT
TTTTCAGCTTTTGGAAAGATCCTTTCCTCCAAGGTGATGAGTGATGATCAAGGCTCCAAGGGCTATGCATTTGTGCACTTTCAGAACCAGAGTGCTGCAGACAGG
GCCATTGAGGAGATGAATGGAAAACTACTCAAGGGCTGCAAGGTGTTTGTTGGCAGATTCAAAAACCGAAAAGATCGTGAAGCTGAACTCAGAAGCAAAGCCAGT
GAATTCACCAATGTTTACATAAAAAACTTTGGAGGTGACATGGATGATGAGAGATTGAAGGACGTTTTCAGCAAATATGGCAAAACTCTGAGTGTTAAGGTGATG
ACAGATTCCAGTGGGAAATCCAAAGGCTTTGGCTTTGTGAGTTTTGATAGCCATGAGGCTGCCAAGAAAGCTGTTGAAGAAATGAATGGAAGGGACATAAATGGG
CAGCTGATTTTTGTAGGCCGGGCTCAAAAGAAAGTCGAGCGACAGGCTGAGTTAAAGCAAATGTTTGAGCAGCTGAAAAGGGAACGAATTCGTGGGTGCCAGGGG
GTAAAACTCTATATTAAGAACCTTGATGACACCATCGATGATGAAAAACTACGAAACGAATTTTCTTCATTTGGATCAATTAGCAGAGTTAAGGTAATGCAGGAA
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>PABPC4L|132430|protein
MRVLPELGESCLNSIAWPLCGDPEASTLEPGQSCDLVSPHRDCSKNSRGQTHSGKDKEMNVAAKYRMASLYVGDLHADVTEDLLFRKFSTVGPVLSIRICRDQVT
RRSLGYAYVNFLQLADAQKALDTMNFDIIKGKSIRLMWSQRDAYLRRSGIGNVFIKNLDKSIDNKTLYEHFSAFGKILSSKVMSDDQGSKGYAFVHFQNQSAADR
AIEEMNGKLLKGCKVFVGRFKNRKDREAELRSKASEFTNVYIKNFGGDMDDERLKDVFSKYGKTLSVKVMTDSSGKSKGFGFVSFDSHEAAKKAVEEMNGRDING
QLIFVGRAQKKVERQAELKQMFEQLKRERIRGCQGVKLYIKNLDDTIDDEKLRNEFSSFGSISRVKVMQEEGQSKGFGLICFSSPEDATKAMTEMNGRILGSKPL
SIALAQRH
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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 (2) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (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
Morrow, 2008 USA aCGH, SNP microarrayASD 104 79 25 - - - -
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top