AutismKB 2.0

Evidence Details for PNPLA7


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Basic Information Top
Gene Symbol:PNPLA7 ( C9orf111,FLJ31318,FLJ43070,FLJ44279,NTE-R1,NTEL1 )
Gene Full Name: patatin-like phospholipase domain containing 7
Band: 9q34.3
Quick LinksEntrez ID:375775; OMIM: 612122; Uniprot ID:PLPL7_HUMAN; ENSEMBL ID: ENSG00000130653; HGNC ID: 24768
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PNPLA7|375775|nucleotide
ATGGAGGAAGAGAAAGATGACAGCCCACAGGCTGACTTCTGCCTGGGCACCGCCCTGCACTCTTGGGGACTGTGGTTCACGGAGGAAGGTTCACCGTCCACCATG
CTGACGGGGATTGCAGTTGGAGCCCTCCTGGCCCTGGCCTTGGTTGGTGTCCTCATCCTTTTCATGTTCAGAAGGCTTAGACAATTTCGACAAGCACAGCCCACT
CCTCAGTACCGGTTCCGGAAGAGAGACAAAGTGATGTTTTACGGCCGGAAGATCATGAGGAAGGTGACCACACTCCCCAACACCCTTGTGGAGAACACTGCCCTG
CCCCGGCAGCGGGCCAGGAAGAGGACCAAGGTGCTGTCTTTGGCCAAGAGGATTCTGCGTTTCAAGAAGGAATACCCGGCCCTGCAGCCCAAGGAGCCCCCGCCC
TCCCTGCTGGAGGCCGACCTCACGGAGTTTGACGTGAAGAATTCTCACCTGCCATCGGAAGTTCTGTACATGCTGAAAAACGTTCGGGTCCTGGGCCACTTTGAG
AAGCCGCTGTTCCTGGAGCTTTGCAAACACATCGTCTTTGTGCAGCTGCAGGAAGGGGAGCACGTCTTCCAGCCCAGGGAGCCGGACCCCAGCATCTGTGTGGTG
CAGGACGGGCGGCTGGAGGTCTGCATCCAGGACACTGACGGCACCGAGGTGGTGGTGAAAGAGGTTCTGGCGGGAGACAGCGTCCACAGCCTGCTCAGCATCCTG
GACATCATCACCGGCCATGCTGCACCTTACAAAACGGTCTCCGTCCGCGCGGCCATCCCGTCCACCATCCTCCGGCTTCCAGCTGCGGCTTTTCATGGAGTTTTT
GAGAAATATCCGGAAACTCTGGTGAGGGTGGTGCAGATCATCATGGTGCGGCTGCAGAGGGTGACCTTTCTGGCTCTGCACAACTACCTCGGCCTGACCACAGAG
CTCTTCAACGCTGAGAGCCAGGCCATCCCTCTCGTGTCTGTAGCCAGTGTGGCTGCCGGGAAGGCCAAGAAGCAGGTGTTCTATGGCGAAGAAGAGCGGCTTAAA
AAGCCACCGCGGCTCCAGGAGTCCTGTGACTCAGATCACGGGGGCGGCCGCCCGGCAGCTGCTGGGCCCCTGCTGAAGAGGAGCCACTCCGTCCCCGCGCCTTCC
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>PNPLA7|375775|protein
MEEEKDDSPQADFCLGTALHSWGLWFTEEGSPSTMLTGIAVGALLALALVGVLILFMFRRLRQFRQAQPTPQYRFRKRDKVMFYGRKIMRKVTTLPNTLVENTAL
PRQRARKRTKVLSLAKRILRFKKEYPALQPKEPPPSLLEADLTEFDVKNSHLPSEVLYMLKNVRVLGHFEKPLFLELCKHIVFVQLQEGEHVFQPREPDPSICVV
QDGRLEVCIQDTDGTEVVVKEVLAGDSVHSLLSILDIITGHAAPYKTVSVRAAIPSTILRLPAAAFHGVFEKYPETLVRVVQIIMVRLQRVTFLALHNYLGLTTE
LFNAESQAIPLVSVASVAAGKAKKQVFYGEEERLKKPPRLQESCDSDHGGGRPAAAGPLLKRSHSVPAPSIRKQILEELEKPGAGDPDPSAPQGGPGSATSDLGM
ACDRARVFLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETLASRKSDAIFRAAKKDLLTLMKLEDSSLLDGRVALLHVPAGTVVSRQGDQDASILFVV
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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 (3) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (7)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top