AutismKB 2.0

Evidence Details for PAPLN


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Basic Information Top
Gene Symbol:PAPLN ( DKFZp434F053,MGC50452 )
Gene Full Name: papilin, proteoglycan-like sulfated glycoprotein
Band: 14q24.2
Quick LinksEntrez ID:89932; OMIM: NA; Uniprot ID:PPN_HUMAN; ENSEMBL ID: ENSG00000100767; HGNC ID: 19262
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAPLN|89932|nucleotide
ATGCGGCTGCTCCTGCTCGTGCCGCTGCTGCTGGCTCCAGCGCCCGGGTCCTCGGCTCCCAAGGTGAGGCGGCAGAGTGACACCTGGGGACCCTGGAGCCAGTGG
AGCCCCTGCAGCCGGACCTGTGGAGGGGGTGTCAGCTTCCGGGAGCGCCCCTGCTACTCCCAGAGGAGAGATGGAGGCTCCAGCTGCGTGGGCCCCGCCCGGAGC
CACCGCTCTTGTCGCACGGAGAGCTGCCCCGACGGCGCCCGGGACTTCCGGGCCGAGCAGTGCGCGGAGTTCGACGGAGCGGAGTTCCAGGGGCGGCGGTATCGG
TGGCTGCCCTACTACAGCGCCCCAAACAAGTGTGAACTGAACTGCATTCCCAAGGGGGAGAACTTCTACTACAAGCACAGGGAGGCTGTGGTTGATGGGACGCCC
TGCGAGCCTGGCAAGAGGGATGTCTGTGTGGATGGCAGCTGCCGGGTTGTCGGCTGTGATCACGAGCTGGACTCGTCCAAGCAGGAGGACAAGTGTCTGCGGTGT
GGGGGTGACGGCACGACCTGCTACCCCGTCGCAGGCACCTTTGACGCTAATGACCTCAGCCGAGCTGTGAAGAATGTTCGTGGGGAATACTACCTCAATGGGCAC
TGGACCATCGAGGCGGCCCGGGCCCTGCCAGCAGCCAGCACCATCCTGCATTACGAGCGGGGTGCTGAGGGGGACCTGGCCCCTGAGCGACTCCATGCCCGGGGC
CCCACCTCGGAGCCCCTGGTCATCGAGCTCATCAGCCAGGAGCCCAACCCCGGTGTGCACTATGAGTACCACCTGCCCCTGCGCCGCCCCAGCCCCGGCTTCAGC
TGGAGCCACGGCTCATGGAGTGACTGCAGCGCGGAGTGTGGCGGAGGTCACCAGTCCCGCCTGGTGTTCTGCACCATCGACCATGAGGCCTACCCCGACCACATG
TGCCAGCGCCAGCCACGGCCAGCTGACCGGCGTTCCTGCAATCTTCACCCTTGCCCGGAGACCAAGCGCTGGAAGGCAGGGCCATGGGCACCCTGCTCAGCCTCC
TGTGGAGGAGGCTCCCAGTCCCGCTCCGTGTACTGCATCTCGTCTGACGGGGCCGGCATCCAGGAGGCCGTGGAGGAGGCTGAGTGTGCCGGGCTGCCTGGGAAG
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>PAPLN|89932|protein
MRLLLLVPLLLAPAPGSSAPKVRRQSDTWGPWSQWSPCSRTCGGGVSFRERPCYSQRRDGGSSCVGPARSHRSCRTESCPDGARDFRAEQCAEFDGAEFQGRRYR
WLPYYSAPNKCELNCIPKGENFYYKHREAVVDGTPCEPGKRDVCVDGSCRVVGCDHELDSSKQEDKCLRCGGDGTTCYPVAGTFDANDLSRAVKNVRGEYYLNGH
WTIEAARALPAASTILHYERGAEGDLAPERLHARGPTSEPLVIELISQEPNPGVHYEYHLPLRRPSPGFSWSHGSWSDCSAECGGGHQSRLVFCTIDHEAYPDHM
CQRQPRPADRRSCNLHPCPETKRWKAGPWAPCSASCGGGSQSRSVYCISSDGAGIQEAVEEAECAGLPGKPPAIQACNLQRCAAWSPEPWGECSVSCGVGVRKRS
VTCRGERGSLLHTAACSLEDRPPLTEPCVHEDCPLLSDQAWHVGTWGLCSKSCSSGTRRRQVICAIGPPSHCGSLQHSKPVDVEPCNTQPCHLPQEVPSMQDVHT
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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