AutismKB 2.0

Evidence Details for PLIN2


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Basic Information Top
Gene Symbol:PLIN2 ( ADFP,ADRP,MGC10598 )
Gene Full Name: perilipin 2
Band: 9p22.1
Quick LinksEntrez ID:123; OMIM: 103195; Uniprot ID:PLIN2_HUMAN; ENSEMBL ID: ENSG00000147872; HGNC ID: 248
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLIN2|123|nucleotide
ATGGCATCCGTTGCAGTTGATCCACAACCGAGTGTGGTGACTCGGGTGGTCAACCTGCCCTTGGTGAGCTCCACGTATGACCTCATGTCCTCAGCCTATCTCAGT
ACAAAGGACCAGTATCCCTACCTGAAGTCTGTGTGTGAGATGGCAGAGAACGGTGTGAAGACCATCACCTCCGTGGCCATGACCAGTGCTCTGCCCATCATCCAG
AAGCTAGAGCCGCAAATTGCAGTTGCCAATACCTATGCCTGTAAGGGGCTAGACAGGATTGAGGAGAGACTGCCTATTCTGAATCAGCCATCAACTCAGATTGTT
GCCAATGCCAAAGGCGCTGTGACTGGGGCAAAAGATGCTGTGACGACTACTGTGACTGGGGCCAAGGATTCTGTGGCCAGCACGATCACAGGGGTGATGGACAAG
ACCAAAGGGGCAGTGACTGGCAGTGTGGAGAAGACCAAGTCTGTGGTCAGTGGCAGCATTAACACAGTCTTGGGGAGTCGGATGATGCAGCTCGTGAGCAGTGGC
GTAGAAAATGCACTCACCAAATCAGAGCTGTTGGTAGAACAGTACCTCCCTCTCACTGAGGAAGAACTAGAAAAAGAAGCAAAAAAAGTTGAAGGATTTGATCTG
GTTCAGAAGCCAAGTTATTATGTTAGACTGGGATCCCTGTCTACCAAGCTTCACTCCCGTGCCTACCAGCAGGCTCTCAGCAGGGTTAAAGAAGCTAAGCAAAAA
AGCCAACAGACCATTTCTCAGCTCCATTCTACTGTTCACCTGATTGAATTTGCCAGGAAGAATGTGTATAGTGCCAATCAGAAAATTCAGGATGCTCAGGATAAG
CTCTACCTCTCATGGGTAGAGTGGAAAAGGAGCATTGGATATGATGATACTGATGAGTCCCACTGTGCTGAGCACATTGAGTCACGTACTCTTGCAATTGCCCGC
AACCTGACTCAGCAGCTCCAGACCACGTGCCACACCCTCCTGTCCAACATCCAAGGTGTACCACAGAACATCCAAGATCAAGCCAAGCACATGGGGGTGATGGCA
GGCGACATCTACTCAGTGTTCCGCAATGCTGCCTCCTTTAAAGAAGTGTCTGACAGCCTCCTCACTTCTAGCAAGGGGCAGCTGCAGAAAATGAAGGAATCTTTA
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>PLIN2|123|protein
MASVAVDPQPSVVTRVVNLPLVSSTYDLMSSAYLSTKDQYPYLKSVCEMAENGVKTITSVAMTSALPIIQKLEPQIAVANTYACKGLDRIEERLPILNQPSTQIV
ANAKGAVTGAKDAVTTTVTGAKDSVASTITGVMDKTKGAVTGSVEKTKSVVSGSINTVLGSRMMQLVSSGVENALTKSELLVEQYLPLTEEELEKEAKKVEGFDL
VQKPSYYVRLGSLSTKLHSRAYQQALSRVKEAKQKSQQTISQLHSTVHLIEFARKNVYSANQKIQDAQDKLYLSWVEWKRSIGYDDTDESHCAEHIESRTLAIAR
NLTQQLQTTCHTLLSNIQGVPQNIQDQAKHMGVMAGDIYSVFRNAASFKEVSDSLLTSSKGQLQKMKESLDDVMDYLVNNTPLNWLVGPFYPQLTESQNAQDQGA
EMDKSSQETQRSEHKTH
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top