AutismKB 2.0

Evidence Details for PSIP1


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Basic Information Top
Gene Symbol:PSIP1 ( DFS70,LEDGF,MGC74712,PAIP,PSIP2,p52,p75 )
Gene Full Name: PC4 and SFRS1 interacting protein 1
Band: 9p22.3
Quick LinksEntrez ID:11168; OMIM: 603620; Uniprot ID:PSIP1_HUMAN; ENSEMBL ID: ENSG00000164985; HGNC ID: 9527
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PSIP1|11168|nucleotide
ATGACTCGCGATTTCAAACCTGGAGACCTCATCTTCGCCAAGATGAAAGGTTATCCCCATTGGCCAGCTCGAGTAGACGAAGTTCCTGATGGAGCTGTAAAGCCA
CCCACAAACAAACTACCCATTTTCTTTTTTGGAACTCATGAGACTGCTTTTTTAGGACCAAAGGATATATTTCCTTACTCAGAAAATAAGGAAAAGTATGGCAAA
CCAAATAAAAGAAAAGGTTTTAATGAAGGTTTATGGGAGATAGATAACAATCCAAAAGTGAAATTTTCAAGTCAACAGGCAGCAACTAAACAATCAAATGCATCA
TCTGATGTTGAAGTTGAAGAAAAGGAAACTAGTGTTTCAAAGGAAGATACCGACCATGAAGAAAAAGCCAGCAATGAGGATGTGACTAAAGCAGTTGACATAACT
ACTCCAAAAGCTGCCAGAAGGGGGAGAAAGAGAAAGGCAGAAAAACAAGTAGAAACTGAGGAGGCAGGAGTAGTGACAACAGCAACAGCATCTGTTAATCTAAAA
GTGAGTCCTAAAAGAGGACGACCTGCAGCTACAGAAGTCAAGATTCCAAAACCAAGAGGCAGACCCAAAATGGTAAAACAGCCCTGTCCTTCAGAGAGTGACATC
ATTACTGAAGAGGACAAAAGTAAGAAAAAGGGGCAAGAGGAAAAACAACCTAAAAAGCAGCCTAAGAAGGATGAAGAGGGCCAGAAGGAAGAAGATAAGCCAAGA
AAAGAGCCGGATAAAAAAGAGGGGAAGAAAGAAGTTGAATCAAAAAGGAAAAATTTAGCTAAAACAGGGGTTACTTCAACCTCCGATTCTGAAGAAGAAGGAGAT
GATCAAGAAGGTGAAAAGAAGAGAAAAGGTGGGAGGAACTTTCAGACTGCTCACAGAAGGAATATGCTGAAAGGCCAACATGAGAAAGAAGCAGCAGATCGAAAA
CGCAAGCAAGAGGAACAAATGGAAACTGAGCAGCAGAATAAAGATGAAGGAAAGAAGCCAGAAGTTAAGAAAGTGGAGAAGAAGCGAGAAACATCAATGGATTCT
CGACTTCAAAGGATACATGCTGAGATTAAAAATTCACTCAAAATTGATAATCTTGATGTGAACAGATGCATTGAGGCCTTGGATGAACTTGCTTCACTTCAGGTC
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>PSIP1|11168|protein
MTRDFKPGDLIFAKMKGYPHWPARVDEVPDGAVKPPTNKLPIFFFGTHETAFLGPKDIFPYSENKEKYGKPNKRKGFNEGLWEIDNNPKVKFSSQQAATKQSNAS
SDVEVEEKETSVSKEDTDHEEKASNEDVTKAVDITTPKAARRGRKRKAEKQVETEEAGVVTTATASVNLKVSPKRGRPAATEVKIPKPRGRPKMVKQPCPSESDI
ITEEDKSKKKGQEEKQPKKQPKKDEEGQKEEDKPRKEPDKKEGKKEVESKRKNLAKTGVTSTSDSEEEGDDQEGEKKRKGGRNFQTAHRRNMLKGQHEKEAADRK
RKQEEQMETEQQNKDEGKKPEVKKVEKKRETSMDSRLQRIHAEIKNSLKIDNLDVNRCIEALDELASLQVTMQQAQKHTEMITTLKKIRRFKVSQVIMEKSTMLY
NKFKNMFLVGEGDSVITQVLNKSLAEQRQHEEANKTKDQGKKGPNKKLEKEQTGSKTLNGGSDAQDGNQPQHNGESNEDSKDNHEASTKKKPSSEERETEISLKD
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top