AutismKB 2.0

Evidence Details for COPS2


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Basic Information Top
Gene Symbol:COPS2 ( ALIEN,CSN2,SGN2,TRIP15 )
Gene Full Name: COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)
Band: 15q21.2
Quick LinksEntrez ID:9318; OMIM: 604508; Uniprot ID:CSN2_HUMAN; ENSEMBL ID: ENSG00000166200; HGNC ID: 30747
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COPS2|9318|nucleotide
ATGTCTGACATGGAGGATGATTTCATGTGCGATGATGAGGAGGACTACGACCTGGAATACTCTGAAGATAGTAACTCCGAGCCAAATGTGGATTTGGAAAATCAG
TACTATAATTCCAAAGCATTAAAAGAAGATGACCCAAAAGCGGCATTAAGCAGTTTCCAAAAGGTTTTGGAACTTGAAGGTGAAAAAGGAGAATGGGGATTTAAA
GCACTGAAACAAATGATTAAGATTAACTTCAAGTTGACAAACTTTCCAGAAATGATGAATAGATATAAGCAGCTATTGACCTATATTCGGAGTGCAGTCACAAGA
AATTATTCTGAAAAATCCATTAATTCTATTCTTGATTATATCTCTACTTCTAAACAGAATTCTGATTTTTTATGTCAGATGGATTTACTGCAGGAATTCTATGAA
ACAACACTGGAAGCTTTGAAAGATGCTAAGAATGATAGACTGTGGTTTAAGACAAACACAAAGCTTGGAAAATTATATTTAGAACGAGAGGAATATGGAAAGCTT
CAAAAAATTTTACGCCAGTTACATCAGTCGTGCCAGACTGATGATGGAGAAGATGATCTGAAAAAAGGTACACAGTTATTAGAAATATATGCTTTGGAAATTCAA
ATGTACACAGCACAGAAAAATAACAAAAAACTTAAAGCACTCTATGAACAGTCACTTCACATCAAGTCTGCCATCCCTCATCCACTGATTATGGGAGTTATCAGA
GAATGTGGTGGTAAAATGCACTTGAGGGAAGGTGAATTTGAAAAGGCACACACTGATTTTTTTGAAGCCTTCAAGAATTATGATGAATCTGGAAGTCCAAGACGA
ACCACTTGCTTAAAATATTTGGTCTTAGCAAATATGCTTATGAAATCGGGAATAAATCCATTTGACTCACAGGAGGCCAAGCCGTACAAAAATGATCCAGAAATT
TTAGCAATGACGAATTTAGTAAGTGCCTATCAGAATAATGACATCACTGAATTTGAAAAGATTCTAAAAACAAATCACAGCAACATCATGGATGATCCTTTCATA
AGAGAACACATTGAAGAGCTTTTGCGAAACATCAGAACACAAGTGCTTATAAAATTAATTAAGCCTTACACAAGAATACATATTCCTTTTATTTCTAAGGAGTTA
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>COPS2|9318|protein
MSDMEDDFMCDDEEDYDLEYSEDSNSEPNVDLENQYYNSKALKEDDPKAALSSFQKVLELEGEKGEWGFKALKQMIKINFKLTNFPEMMNRYKQLLTYIRSAVTR
NYSEKSINSILDYISTSKQNSDFLCQMDLLQEFYETTLEALKDAKNDRLWFKTNTKLGKLYLEREEYGKLQKILRQLHQSCQTDDGEDDLKKGTQLLEIYALEIQ
MYTAQKNNKKLKALYEQSLHIKSAIPHPLIMGVIRECGGKMHLREGEFEKAHTDFFEAFKNYDESGSPRRTTCLKYLVLANMLMKSGINPFDSQEAKPYKNDPEI
LAMTNLVSAYQNNDITEFEKILKTNHSNIMDDPFIREHIEELLRNIRTQVLIKLIKPYTRIHIPFISKELNIDVADVESLLVQCILDNTIHGRIDQVNQLLELDH
QKRGGARYTALDKWTNQLNSLNQAVVSKLA
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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 (1) 1 (1) 0 (0) 0 (0) 2 (4) 0 (0) 0 (0) 0 (0) 24 (6)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top