AutismKB 2.0

Evidence Details for OTUD5


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Basic Information Top
Gene Symbol:OTUD5 ( DKFZp761A052,DUBA,MGC104871 )
Gene Full Name: OTU domain containing 5
Band: Xp11.23
Quick LinksEntrez ID:55593; OMIM: 300713; Uniprot ID:OTUD5_HUMAN; ENSEMBL ID: ENSG00000068308; HGNC ID: 25402
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OTUD5|55593|nucleotide
ATGACTATACTCCCCAAAAAGAAGCCGCCGCCTCCCGACGCCGACCCCGCCAACGAGCCGCCGCCGCCCGGGCCGATGCCCCCGGCGCCGCGGCGCGGCGGAGGT
GTGGGCGTGGGCGGCGGCGGCACGGGCGTGGGCGGCGGCGATCGCGACCGTGACTCCGGCGTCGTGGGGGCCCGTCCGCGAGCTTCGCCACCGCCTCAAGGCCCG
CTACCAGGACCGCCGGGCGCTCTTCATCGCTGGGCGCTGGCCGTGCCGCCTGGTGCAGTGGCGGGTCCCCGGCCACAACAGGCTTCTCCACCTCCTTGCGGGGGC
CCAGGTGGTCCCGGCGGCGGTCCCGGCGACGCGCTGGGCGCAGCGGCGGCGGGTGTGGGTGCCGCGGGCGTGGTGGTGGGTGTGGGTGGTGCCGTAGGCGTGGGC
GGCTGCTGCTCCGGGCCTGGGCACAGCAAGCGGCGACGTCAAGCTCCCGGGGTTGGCGCGGTTGGCGGGGGCAGTCCCGAGCGTGAGGAGGTCGGCGCAGGCTAC
AACAGTGAGGACGAGTATGAGGCGGCTGCAGCACGCATCGAGGCTATGGACCCTGCCACTGTCGAGCAGCAGGAGCATTGGTTTGAAAAGGCCCTACGAGACAAG
AAGGGCTTCATCATCAAGCAGATGAAGGAGGATGGCGCCTGTCTCTTCCGGGCTGTAGCTGACCAGGTGTATGGAGACCAGGACATGCATGAGGTTGTGCGAAAG
CATTGCATGGACTATCTGATGAAGAATGCCGACTACTTCTCCAACTATGTCACAGAGGACTTTACCACCTACATTAACAGGAAGCGGAAAAACAATTGCCATGGC
AACCACATTGAGATGCAGGCCATGGCAGAGATGTACAACCGTCCTGTGGAGGTGTACCAGTACAGCACAGAACCCATCAACACATTCCATGGGATACATCAAAAC
GAGGACGAACCCATTCGTGTTAGCTACCATCGGAATATCCACTATAATTCAGTGGTGAATCCTAACAAGGCCACCATTGGTGTGGGGCTGGGCCTGCCATCATTC
AAACCAGGGTTTGCAGAGCAGTCTCTGATGAAGAATGCCATAAAAACATCGGAGGAGTCATGGATTGAACAGCAGATGCTAGAAGACAAGAAACGGGCCACAGAC
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>OTUD5|55593|protein
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHRWALAVPPGAVAGPRPQQASPPPCGG
PGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGAVGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDK
KGFIIKQMKEDGACLFRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQN
EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVARESYLQWLRDQEKQARQVRGPS
QPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSA
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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 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top