AutismKB 2.0

Evidence Details for USP46


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:USP46 ( FLJ11850,FLJ12552,FLJ14283,FLJ39393 )
Gene Full Name: ubiquitin specific peptidase 46
Band: 4q12
Quick LinksEntrez ID:64854; OMIM: 612849; Uniprot ID:UBP46_HUMAN; ENSEMBL ID: ENSG00000109189; HGNC ID: 20075
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP46|64854|nucleotide
ATGAATTGTTTTCAGGGCACCAATGCCTCTGCTCTGGAAAAAGACATTGGTCCAGAGCAGTTTCCAATCAATGAACACTATTTCGGATTGGTCAATTTTGGAAAC
ACATGCTACTGTAACTCCGTGCTTCAGGCATTGTACTTCTGCCGTCCATTCCGGGAGAATGTGTTGGCATACAAGGCCCAGCAAAAGAAGAAGGAAAACTTGCTG
ACGTGCCTGGCGGACCTTTTCCACAGCATTGCCACACAGAAGAAGAAGGTTGGCGTCATCCCACCAAAGAAGTTCATTTCAAGGCTGAGAAAAGAGAATGATCTC
TTTGATAACTACATGCAGCAGGATGCTCATGAATTTTTAAATTATTTGCTAAACACTATTGCGGACATCCTTCAGGAGGAGAAGAAACAGGAAAAACAAAATGGA
AAATTAAAAAATGGCAACATGAACGAACCTGCGGAAAATAATAAACCAGAACTCACCTGGGTCCATGAGATTTTTCAGGGAACGCTTACCAATGAAACTCGATGC
TTGAACTGTGAAACTGTTAGTAGCAAAGATGAAGATTTTCTTGACCTTTCTGTTGATGTGGAGCAGAATACATCCATTACCCACTGTCTAAGAGACTTCAGCAAC
ACAGAAACACTGTGTAGTGAACAAAAATATTATTGTGAAACATGCTGCAGCAAACAAGAAGCCCAGAAAAGGATGAGGGTAAAAAAGCTGCCCATGATCTTGGCC
CTGCACCTAAAGCGGTTCAAGTACATGGAGCAGCTGCACAGATACACCAAGCTGTCTTACCGTGTGGTCTTCCCTCTGGAACTCCGGCTCTTCAACACCTCCAGT
GATGCAGTGAACCTGGACCGCATGTATGACTTGGTTGCGGTGGTCGTTCACTGTGGCAGTGGTCCTAATCGTGGGCATTATATCACTATTGTGAAAAGTCACGGC
TTCTGGCTTTTGTTTGATGATGACATTGTAGAGAAAATAGATGCTCAAGCTATTGAAGAATTCTATGGCCTGACGTCAGATATATCAAAAAATTCAGAATCTGGA
TATATTTTATTCTATCAGTCAAGAGAGTAA
Show »

>USP46|64854|protein
MNCFQGTNASALEKDIGPEQFPINEHYFGLVNFGNTCYCNSVLQALYFCRPFRENVLAYKAQQKKKENLLTCLADLFHSIATQKKKVGVIPPKKFISRLRKENDL
FDNYMQQDAHEFLNYLLNTIADILQEEKKQEKQNGKLKNGNMNEPAENNKPELTWVHEIFQGTLTNETRCLNCETVSSKDEDFLDLSVDVEQNTSITHCLRDFSN
TETLCSEQKYYCETCCSKQEAQKRMRVKKLPMILALHLKRFKYMEQLHRYTKLSYRVVFPLELRLFNTSSDAVNLDRMYDLVAVVVHCGSGPNRGHYITIVKSHG
FWLLFDDDIVEKIDAQAIEEFYGLTSDISKNSESGYILFYQSRE

Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top