AutismKB 2.0

Evidence Details for USP13


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Basic Information Top
Gene Symbol:USP13 ( ISOT3,IsoT-3 )
Gene Full Name: ubiquitin specific peptidase 13 (isopeptidase T-3)
Band: 3q26.33
Quick LinksEntrez ID:8975; OMIM: 603591; Uniprot ID:UBP13_HUMAN; ENSEMBL ID: ENSG00000058056; HGNC ID: 12611
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP13|8975|nucleotide
ATGCAGCGCCGGGGCGCCCTGTTCGGCATGCCGGGCGGCAGCGGAGGCAGGAAGATGGCTGCAGGAGACATCGGCGAGCTGCTAGTGCCCCACATGCCCACGATC
CGCGTGCCCAGGTCCGGCGACAGGGTCTACAAGAACGAGTGCGCCTTCTCCTACGACTCTCCCAATTCTGAAGGTGGACTCTATGTATGCATGAATACATTTTTG
GCCTTTGGAAGGGAACATGTTGAAAGACATTTTCGAAAAACTGGACAGAGTGTATACATGCACCTGAAAAGACATGTGCGAGAGAAGGTAAGAGGGGCGTCTGGT
GGAGCGTTACCAAAAAGGAGGAATTCCAAGATTTTTTTAGATCTAGATACTGATGACGATTTAAATAGCGACGATTATGAATATGAAGATGAAGCCAAACTTGTT
ATATTCCCAGATCACTATGAAATAGCACTACCAAATATTGAGGAGTTACCAGCCCTGGTAACAATTGCTTGTGATGCAGTTCTCAGCTCAAAATCTCCATACAGA
AAGCAGGACCCAGACACGTGGGAAAATGAATTGCCAGTATCTAAATATGCCAACAACCTCACCCAGCTGGACAATGGAGTCAGGATTCCTCCAAGTGGTTGGAAG
TGTGCCAGATGCGACCTGCGAGAAAACCTCTGGTTGAATCTGACTGACGGCTCTGTCCTGTGTGGAAAGTGGTTCTTTGACAGCTCTGGGGGCAACGGGCATGCG
CTGGAGCATTACAGAGACATGGGCTACCCACTAGCCGTGAAACTGGGAACCATCACTCCTGACGGGGCAGATGTTTATTCTTTTCAAGAAGAAGAACCTGTTTTG
GATCCTCATTTGGCCAAGCACTTAGCGCATTTTGGAATTGATATGCTTCATATGCATGGGACAGAGAATGGGCTCCAGGACAATGACATCAAGCTGAGGGTCAGT
GAGTGGGAAGTGATCCAGGAGTCGGGCACGAAACTGAAGCCAATGTATGGTCCTGGCTACACGGGTCTGAAGAACCTGGGCAACAGCTGCTATCTCAGCTCTGTC
ATGCAGGCCATCTTCAGCATCCCAGAATTCCAGAGAGCGTATGTAGGAAACCTTCCCAGAATATTTGACTACTCGCCTTTAGATCCAACACAAGATTTCAACACA
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>USP13|8975|protein
MQRRGALFGMPGGSGGRKMAAGDIGELLVPHMPTIRVPRSGDRVYKNECAFSYDSPNSEGGLYVCMNTFLAFGREHVERHFRKTGQSVYMHLKRHVREKVRGASG
GALPKRRNSKIFLDLDTDDDLNSDDYEYEDEAKLVIFPDHYEIALPNIEELPALVTIACDAVLSSKSPYRKQDPDTWENELPVSKYANNLTQLDNGVRIPPSGWK
CARCDLRENLWLNLTDGSVLCGKWFFDSSGGNGHALEHYRDMGYPLAVKLGTITPDGADVYSFQEEEPVLDPHLAKHLAHFGIDMLHMHGTENGLQDNDIKLRVS
EWEVIQESGTKLKPMYGPGYTGLKNLGNSCYLSSVMQAIFSIPEFQRAYVGNLPRIFDYSPLDPTQDFNTQMTKLGHGLLSGQYSKPPVKSELIEQVMKEEHKPQ
QNGISPRMFKAFVSKSHPEFSSNRQQDAQEFFLHLVNLVERNRIGSENPSDVFRFLVEERIQCCQTRKVRYTERVDYLMQLPVAMEAATNKDELIAYELTRREAE
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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 (1) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top