AutismKB 2.0

Evidence Details for PION


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Basic Information Top
Gene Symbol:PION ( DKFZp667B242,MGC126548 )
Gene Full Name: pigeon homolog (Drosophila)
Band: 7q11.23
Quick LinksEntrez ID:54103; OMIM: 613552; Uniprot ID:GSAP_HUMAN; ENSEMBL ID: ENSG00000186088; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PION|54103|nucleotide
ATGGCTCTTCGCCTGGTCGCCGACTTCGACCTCGGGAAGGACGTGCTCCCGTGGTTGCGGGCGCAGCGGGCAGTGTCGGAGGCCAGCGGGGCCGGAAGCGGCGGC
GCAGATGTTTTAGAAAACGATTATGAGAGCTTACATGTATTAAATGTTGAAAGAAATGGAAATATTATTTATACCTATAAGGATGATAAGGGAAATGTCGTCTTT
GGATTATATGATTGTCAAACCAGACAAAATGAGCTTCTATATACCTTTGAGAAAGACTTGCAAGTTTTCAGTTGCTCTGTCAACAGTGAAAGGACTTTGCTTGCT
GCAAGTTTAGTTCAGTCTACTAAAGAAGGAAAAAGGAACGAACTTCAACCAGGATCAAAGTGCTTGACTTTGTTGGTTGAAATCCACCCTGTTAACAATGTGAAG
GTTCTAAAGGCTGTGGATAGCTATATTTGGGTTCAGTTTCTCTACCCACATATTGAAAGTCATCCTCTTCCAGAGAACCATCTGTTACTGATTTCAGAAGAGAAA
TATATTGAACAATTTCGTATCCATGTCGCCCAAGAAGATGGAAATAGAGTGGTGATTAAAAATTCTGGCCATCTCCCAAGAGACAGAATAGCTGAGGATTTCGTT
TGGGCTCAGTGGGATATGTCAGAACAGAGATTATATTACATTGACCTGAAGAAATCAAGGAGTATCTTAAAATGTATCCAGTTTTATGCTGATGAGAGCTATAAC
TTAATGTTTGAAGTACCCTTGGACATATCATTAAGCAACTCAGGATTTAAACTTGTCAACTTTGGATGTGATTATCATCAATACCGAGATAAATTTTCCAAACAC
CTGACTCTGTGTGTTTTTACCAACCATACAGGAAGTTTGTGTGTATGTTACAGCCCGAAGTGTGCCTCTTGGGGACAAATCACATATTCAGTGTTTTACATTCAT
AAAGGACACAGCAAGACCTTCACCACTTCTCTTGAGAATGTTGGGTCACACATGACAAAGGGCATTACTTTTCTCAACCTTGACTATTATGTGGCTGTTTACTTA
CCTGGTCATTTCTTCCACCTACTTAATGTTCAACATCCAGACCTGATCTGCCACAATCTCTTTCTGACAGGAAATAATGAAATGATTGATATGCTACCTCATTGC
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>PION|54103|protein
MALRLVADFDLGKDVLPWLRAQRAVSEASGAGSGGADVLENDYESLHVLNVERNGNIIYTYKDDKGNVVFGLYDCQTRQNELLYTFEKDLQVFSCSVNSERTLLA
ASLVQSTKEGKRNELQPGSKCLTLLVEIHPVNNVKVLKAVDSYIWVQFLYPHIESHPLPENHLLLISEEKYIEQFRIHVAQEDGNRVVIKNSGHLPRDRIAEDFV
WAQWDMSEQRLYYIDLKKSRSILKCIQFYADESYNLMFEVPLDISLSNSGFKLVNFGCDYHQYRDKFSKHLTLCVFTNHTGSLCVCYSPKCASWGQITYSVFYIH
KGHSKTFTTSLENVGSHMTKGITFLNLDYYVAVYLPGHFFHLLNVQHPDLICHNLFLTGNNEMIDMLPHCPLQSLSGSLVLDCCSGKLYRALLSQSSLLQLLQNT
CLDCEKMAALHCALYCGQGAQFLEAQIIQWISENVSACHSFDLIQEFIIASSYWSVYSETSNMDKLLPHSSVLTWNTEIPGITLVTEDIALPLMKVLSFKGYWEK
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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) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top