AutismKB 2.0

Evidence Details for PDS5A


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Basic Information Top
Gene Symbol:PDS5A ( DKFZp686B19246,FLJ41012,KIAA0648,MGC131948,MGC161503,SCC-112 )
Gene Full Name: PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)
Band: 4p14
Quick LinksEntrez ID:23244; OMIM: 613200; Uniprot ID:PDS5A_HUMAN; ENSEMBL ID: ENSG00000121892; HGNC ID: 29088
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDS5A|23244|nucleotide
ATGGACTTCACCGCGCAGCCCAAGCCTGCCACTGCCCTCTGTGGCGTCGTGAGTGCCGACGGGAAGATCGCTTACCCTCCGGGGGTAAAAGAGATCACCGACAAG
ATCACCACGGACGAGATGATCAAACGCCTGAAGATGGTAGTGAAAACCTTTATGGATATGGATCAGGACTCAGAAGATGAAAAACAGCAGTATCTCCCACTAGCC
TTGCATCTTGCATCTGAATTCTTCCTCAGGAACCCCAATAAAGATGTGCGTCTCCTTGTAGCATGTTGTTTGGCTGATATCTTTCGTATCTATGCCCCAGAAGCT
CCATATACTTCCCATGATAAACTTAAGGACATATTTTTGTTTATTACCAGACAATTAAAAGGTTTGGAGGATACAAAGAGTCCACAGTTTAATAGATACTTTTAT
TTATTAGAGAATTTAGCTTGGGTTAAATCATATAACATCTGCTTTGAATTGGAAGATTGCAATGAAATTTTTATTCAGCTTTTTAGAACTCTCTTCTCAGTGATC
AACAATAGCCACAATAAGAAGGTACAAATGCACATGCTAGATTTGATGAGTTCTATCATCATGGAAGGTGATGGAGTTACTCAAGAATTATTGGACTCCATTCTT
ATTAACCTCATTCCTGCACATAAGAACTTAAATAAACAGTCCTTTGACCTTGCAAAAGTGCTATTGAAAAGAACAGTCCAGACTATTGAGGCATGCATTGCTAAT
TTTTTCAATCAAGTCCTGGTGCTGGGAAGATCATCAGTAAGTGATTTGTCAGAACATGTATTTGATCTGATTCAGGAACTTTTTGCTATAGATCCTCATTTATTA
TTATCCGTCATGCCACAGCTTGAATTCAAACTAAAGAGCAATGATGGAGAAGAGCGATTAGCTGTTGTTCGACTTCTAGCTAAATTGTTTGGCTCCAAAGATTCT
GATTTGGCAACACAGAATCGTCCTCTTTGGCAATGTTTTCTTGGACGATTTAATGATATTCATGTTCCTGTGAGATTAGAAAGTGTGAAATTTGCCAGTCATTGT
TTAATGAATCACCCAGATTTAGCGAAGGATCTCACAGAATATTTAAAGGTTAGATCACATGATCCAGAAGAAGCTATTCGTCATGATGTCATTGTTACTATAATA
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>PDS5A|23244|protein
MDFTAQPKPATALCGVVSADGKIAYPPGVKEITDKITTDEMIKRLKMVVKTFMDMDQDSEDEKQQYLPLALHLASEFFLRNPNKDVRLLVACCLADIFRIYAPEA
PYTSHDKLKDIFLFITRQLKGLEDTKSPQFNRYFYLLENLAWVKSYNICFELEDCNEIFIQLFRTLFSVINNSHNKKVQMHMLDLMSSIIMEGDGVTQELLDSIL
INLIPAHKNLNKQSFDLAKVLLKRTVQTIEACIANFFNQVLVLGRSSVSDLSEHVFDLIQELFAIDPHLLLSVMPQLEFKLKSNDGEERLAVVRLLAKLFGSKDS
DLATQNRPLWQCFLGRFNDIHVPVRLESVKFASHCLMNHPDLAKDLTEYLKVRSHDPEEAIRHDVIVTIITAAKRDLALVNDQLLGFVRERTLDKRWRVRKEAMM
GLAQLYKKYCLHGEAGKEAAEKVSWIKDKLLHIYYQNSIDDKLLVEKIFAQYLVPHNLETEERMKCLYYLYASLDPNAVKALNEMWKCQNMLRSHVRELLDLHKQ
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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 (0) 0 (0) 0 (1) 0 (0) 0 (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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top