AutismKB 2.0

Evidence Details for PIWIL2


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Basic Information Top
Gene Symbol:PIWIL2 ( CT80,FLJ10351,HILI,MGC133049,PIWIL1L,mili )
Gene Full Name: piwi-like 2 (Drosophila)
Band: 8p21.3
Quick LinksEntrez ID:55124; OMIM: 610312; Uniprot ID:PIWL2_HUMAN; ENSEMBL ID: ENSG00000197181; HGNC ID: 17644
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PIWIL2|55124|nucleotide
ATGGATCCTTTCCGACCATCGTTCAGGGGCCAGTCTCCTATCCACCCATCCCAGTGCCAGGCTGTACGGATGCCAGGCTGTTGGCCACAAGCTTCTAAACCTTTG
GACCCAGCTCTGGGCAGGGGAGCACCTGCAGGCAGAGGCCATGTATTTGGAAAGCCAGAGGAACCAAGCACACAGAGGGGGCCAGCACAAAGGGAGTCTGTGGGT
TTGGTCTCCATGTTCCGAGGCCTGGGCATTGAAACAGTTTCTAAGACCCCTCTGAAACGGGAAATGCTTCCATCAGGTAGAGGCATTTTAGGTCGAGGCTTGTCT
GCTAATCTGGTACGCAAGGACAGGGAGGAACTCTCTCCCACTTTTTGGGATCCAAAAGTGTTGGCGGCTGGGGACAGCAAGATGGCAGAGACCTCCGTTGGTTGG
AGTAGGACGCTTGGAAGAGGGAGTTCAGATGCGTCTTTATTACCACTGGGAAGAGCAGCAGGTGGTATCAGCAGAGAAGTGGACAAGCCTCCCTGTACCTTCAGC
ACACCGTCCCGGGGTCCCCCGCAGCTGTCATCACCACCAGCTCTGCCCCAGTCTCCCCTGCACTCTCCAGATCGCCCTCTGGTCCTGACTGTGGAACACAAGGAA
AAAGAGCTTATTGTGAAGCAAGGATCAAAAGGAACACCTCAGTCTTTGGGACTGAACCTCGTCAAAATACAGTGTCATAATGAAGCAGTTTATCAATATCATGTG
ACTTTCAGCCCCAATGTGGAGTGCAAAAGCATGAGGTTCGGCATGTTGAAGGACCATCAAGCTGTCACCGGCAACGTCACTGCGTTTGATGGATCTATTCTCTAT
CTGCCTGTTAAGCTTCAACAAGTTCTTGAGTTAAAAAGTCAAAGGAAAACAGACAGTGCTGAAATCAGCATTAAGATTCAGATGACAAAGATCCTGGAGCCCTGC
TCTGACCTGTGCATTCCCTTCTACAATGTTGTTTTCCGTCGGGTAATGAAACTTTTAGATATGAAGCTTGTGGGGAGAAACTTTTATGACCCTACAAGTGCTATG
GTACTACAGCAACACAGATTGCAGATCTGGCCAGGCTATGCAGCTAGCATCCGAAGGACAGATGGAGGGCTCTTCCTGCTAGCTGATGTCTCCCATAAGGTCATT
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>PIWIL2|55124|protein
MDPFRPSFRGQSPIHPSQCQAVRMPGCWPQASKPLDPALGRGAPAGRGHVFGKPEEPSTQRGPAQRESVGLVSMFRGLGIETVSKTPLKREMLPSGRGILGRGLS
ANLVRKDREELSPTFWDPKVLAAGDSKMAETSVGWSRTLGRGSSDASLLPLGRAAGGISREVDKPPCTFSTPSRGPPQLSSPPALPQSPLHSPDRPLVLTVEHKE
KELIVKQGSKGTPQSLGLNLVKIQCHNEAVYQYHVTFSPNVECKSMRFGMLKDHQAVTGNVTAFDGSILYLPVKLQQVLELKSQRKTDSAEISIKIQMTKILEPC
SDLCIPFYNVVFRRVMKLLDMKLVGRNFYDPTSAMVLQQHRLQIWPGYAASIRRTDGGLFLLADVSHKVIRNDCVLDVMHAIYQQNKEHFQDECTKLLVGNIVIT
RYNNRTYRIDDVDWNKTPKDSFTMSDGKEITFLEYYSKNYGITVKEEDQPLLIHRPSERQDNHGMLLKGEILLLPELSFMTGIPEKMKKDFRAMKDLAQQINLSP
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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) 1 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (5)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top