AutismKB 2.0

Evidence Details for PLIN4


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Basic Information Top
Gene Symbol:PLIN4 ( KIAA1881,S3-12 )
Gene Full Name: perilipin 4
Band: 19p13.3
Quick LinksEntrez ID:729359; OMIM: 613247; Uniprot ID:PLIN4_HUMAN; ENSEMBL ID: ENSG00000167676; HGNC ID: 29393
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLIN4|729359|nucleotide
ATGCAGACCCTGGGCAGCTTCTTTGGGTCCCTGCCTGGCTTCAGCTCTGCCCGGAACCTGGTGGCCAACGCACATAGCTCGGCGAGAGCCCGGCCGGCCGCTGAC
CCCACAGGAGCGCCTGCTGCCGAGGCTGCCCAACCACAGGCTCAGGTGGCTGCCCACCCAGAGCAGACGGCCCCATGGACGGAGAAGGAGCTGCAACCTTCGGAA
AAGCAGATGGTGTCCGGGGCCAAAGACCTGGTGTGTTCCAAGATGTCCAGGGCCAAGGATGCCGTGTCCTCCGGGGTGGCCAGCGTGGTGGACGTGGCTAAGGGA
GTGGTCCAGGGAGGCCTGGACACCACTCGGTCTGCACTTACGGGCACCAAGGAGGTGGTGTCCAGCGGGGTCACAGGGGCCATGGACATGGCTAAGGGGGCCGTC
CAAGGGGGTCTGGACACCTCGAAGGCTGTCCTCACCGGCACCAAGGACACGGTGTCCACTGGGCTCACGGGGGCAGTGAATGTGGCCAAAGGGACCGTACAGGCC
GGTGTGGACACCACCAAGACTGTGCTGACCGGCACCAAAGACACAGTGACTACTGGGGTCATGGGGGCAGTGAACTTGGCCAAAGGGACTGTCCAGACTGGCGTG
GAAACCTCCAAGGCTGTGCTGACCGGCACCAAAGATGCTGTGTCCACTGGGCTCACAGGGGCAGTGAATGTGGCCAGAGGAAGCATTCAGACCGGTGTGGACACC
AGTAAGACTGTCCTAACAGGTACCAAGGACACCGTCTGTAGTGGGGTGACTGGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCGGCGTGGACACCAGTAAG
ACTGTCCTAACAGGTACCAAGGACACCGTCTGTAGTGGGGTGACTGGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCGGCGTGGACACCAGTAAGACTGTC
CTAACAGGTACCAAGGACACCGTCTGTAGTGGGGTGACTGGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCGGCGTGGACACCACCAAGACTGTCCTAACT
GGCACCAAGAACACTGTCTGCAGTGGGGTGACCGGTGCCGTGAACTTGGCCAAAGAGGCCATCCAGGGGGGCCTGGATACCACCAAGTCTATGGTCATGGGTACG
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>PLIN4|729359|protein
MQTLGSFFGSLPGFSSARNLVANAHSSARARPAADPTGAPAAEAAQPQAQVAAHPEQTAPWTEKELQPSEKQMVSGAKDLVCSKMSRAKDAVSSGVASVVDVAKG
VVQGGLDTTRSALTGTKEVVSSGVTGAMDMAKGAVQGGLDTSKAVLTGTKDTVSTGLTGAVNVAKGTVQAGVDTTKTVLTGTKDTVTTGVMGAVNLAKGTVQTGV
ETSKAVLTGTKDAVSTGLTGAVNVARGSIQTGVDTSKTVLTGTKDTVCSGVTGAMNVAKGTIQTGVDTSKTVLTGTKDTVCSGVTGAMNVAKGTIQTGVDTSKTV
LTGTKDTVCSGVTGAMNVAKGTIQTGVDTTKTVLTGTKNTVCSGVTGAVNLAKEAIQGGLDTTKSMVMGTKDTMSTGLTGAANVAKGAMQTGLNTTQNIATGTKD
TVCSGVTGAMNLARGTIQTGVDTTKIVLTGTKDTVCSGVTGAANVAKGAVQGGLDTTKSVLTGTKDAVSTGLTGAVNVAKGTVQTGVDTTKTVLTGTKDTVCSGV
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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) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top