AutismKB 2.0

Evidence Details for PNPLA8


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Basic Information Top
Gene Symbol:PNPLA8 ( IPLA2(GAMMA),IPLA2-2,IPLA2G )
Gene Full Name: patatin-like phospholipase domain containing 8
Band: 7q31.1
Quick LinksEntrez ID:50640; OMIM: 612123; Uniprot ID:PLPL8_HUMAN; ENSEMBL ID: ENSG00000135241; HGNC ID: 28900
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PNPLA8|50640|nucleotide
ATGTCTATTAATCTGACTGTAGATATATATATTTACCTCCTTAGTAATGCAAGAAGTGTTTGTGGGAAGCAGAGAAGCAAGCAACTGTATTTCTTGTTCTCACCT
AAGCATTACTGGAGGATAAGCCACATCAGTCTACAAAGAGGTTTTCATACAAACATAATAAGATGTAAATGGACCAAAAGTGAAGCACATTCTTGCAGTAAGCAC
TGTTACTCTCCAAGCAACCATGGTTTACATATTGGGATTTTGAAACTTAGCACTTCTGCTCCCAAGGGACTTACAAAAGTGAACATTTGTATGTCCCGTATTAAA
AGTACTTTGAACTCTGTTTCAAAGGCTGTTTTTGGCAATCAAAATGAAATGATTTCACGTTTAGCTCAATTTAAGCCAAGTTCCCAAATTTTAAGAAAAGTATCG
GATAGTGGCTGGTTAAAACAGAAAAACATCAAACAAGCCATCAAATCTCTGAAAAAATATAGTGACAAATCAGCAGAAAAGAGTCCTTTTCCAGAAGAGAAAAGT
CACATTATAGACAAAGAAGAAGATATAGGTAAACGCAGTCTTTTTCATTACACAAGTTCTATAACCACAAAATTTGGAGACTCATTCTACTTTTTATCAAATCAT
ATTAATTCATATTTCAAACGTAAGGAAAAAATGTCTCAACAAAAGGAAAATGAACATTTCCGGGACAAATCAGAACTTGAAGATAAAAAGGTAGAAGAGGGGAAA
TTAAGATCTCCAGATCCTGGCATCCTGGCTTATAAGCCAGGCTCAGAATCTGTACATACGGTGGACAAGCCTACAAGTCCTTCTGCGATACCTGATGTTCTTCAA
GTTTCAACTAAACAAAGTATTGCTAACTTTCTTTCTCGTCCCACGGAAGGTGTACAAGCTTTAGTAGGTGGTTATATTGGTGGACTTGTCCCCAAATTAAAGTAT
GATTCAAAGAGTCAGTCAGAAGAACAGGAAGAGCCTGCTAAAACTGATCAGGCTGTCAGCAAAGACAGAAATGCAGAGGAGAAAAAGCGTTTATCTCTTCAGCGA
GAAAAGATTATCGCAAGGGTGAGTATTGATAACAGGACCCGGGCATTAGTTCAGGCATTAAGAAGAACAACTGACCCAAAGCTCTGCATTACTAGGGTTGAAGAA
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>PNPLA8|50640|protein
MSINLTVDIYIYLLSNARSVCGKQRSKQLYFLFSPKHYWRISHISLQRGFHTNIIRCKWTKSEAHSCSKHCYSPSNHGLHIGILKLSTSAPKGLTKVNICMSRIK
STLNSVSKAVFGNQNEMISRLAQFKPSSQILRKVSDSGWLKQKNIKQAIKSLKKYSDKSAEKSPFPEEKSHIIDKEEDIGKRSLFHYTSSITTKFGDSFYFLSNH
INSYFKRKEKMSQQKENEHFRDKSELEDKKVEEGKLRSPDPGILAYKPGSESVHTVDKPTSPSAIPDVLQVSTKQSIANFLSRPTEGVQALVGGYIGGLVPKLKY
DSKSQSEEQEEPAKTDQAVSKDRNAEEKKRLSLQREKIIARVSIDNRTRALVQALRRTTDPKLCITRVEELTFHLLEFPEGKGVAVKERIIPYLLRLRQIKDETL
QAAVREILALIGYVDPVKGRGIRILSIDGGGTRGVVALQTLRKLVELTQKPVHQLFDYICGVSTGAILAFMLGLFHMPLDECEELYRKLGSDVFSQNVIVGTVKM
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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 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top