AutismKB 2.0

Evidence Details for CCT8L2


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Basic Information Top
Gene Symbol:CCT8L2 ( CESK1,MGC118839,MGC118840 )
Gene Full Name: chaperonin containing TCP1, subunit 8 (theta)-like 2
Band: 22q11.1
Quick LinksEntrez ID:150160; OMIM: NA; Uniprot ID:TCPQM_HUMAN; ENSEMBL ID: ENSG00000198445; HGNC ID: 15553
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCT8L2|150160|nucleotide
ATGGACAGCACAGTCCCTTCAGCCCTGGAGCTGCCCCAGCGGCTGGCACTGAACCCAAGGGAGAGCCCGAGGAGTCCAGAAGAGGAGGAGCCCCACCTGCTGAGC
AGCTTGGCTGCAGTCCAGACCCTGGCCAGTGTCATCCGGCCTTGCTATGGCCCCCACGGCCGGCAGAAGTTCCTGGTGACCATGAAAGGAGAAACAGTGTGCACG
GGGTGTGCCACTGCCATCCTCAGGGCCCTGGAGCTGGAGCACCCAGCAGCATGGCTCCTCCGGGAAGCAGGACAAACCCAGGCAGAGAATAGTGGGGACGGCACA
GCCTTCGTGGTTCTGCTGACGGAAGCCTTGCTGGAACAGGCAGAGCAGCTGCTGAAGGCTGGCCTGCCTCGCCCGCAGCTCCGGGAGGCCTACGCCACGGCCACT
GCAGAGGTCCTGGCCACACTGCCCTCCCTGGCCATCCAATCTCTGGGGCCTTTGGAAGATCCATCCTGGGCCCTCCATTCTGTGATGAATACCCACACCCTGTCC
CCCATGGACCACTTGACCAAGCTGGTGGCCCACGCCTGCTGGGCTATCAAGGAACTAGACGGCAGCTTCAAGCCTGAGCGTGTTGGGGTGTGCGCGCTGCCCGGG
GGGACACTGGAGGATTCCTGCCTCCTCCCGGGGTTAGCAATATCTGGGAAGCTCTGTGGGCAAATGGCCACAGTGTTAAGTGGTGCCAGGGTGGCTCTCTTTGCT
TGCCCCTTTGGTCCTGCCCATCCAAATGCACCAGCAACGGCCCGTCTTTCTAGTCCTGCTGATCTAGCTCAATTTAGTAAAGGAAGCGATCAATTACTAGAAAAG
CAAGTAGGCCAGCTAGCAGCTGCAGGAATTAATGTGGCAGTGGTGTTGGGGGAGGTCGACGAGGAGACCCTCACACTGGCGGACAAGTATGGCATCGTGGTGATT
CAAGCTAGGTCTTGGATGGAGATCATTTACCTGAGTGAGGTGTTGGACACACCTCTGCTGCCTCGTCTGCTCCCTCCCCAGAGGCCAGGCAAGTGCCAGAGGGTT
TACAGGCAGGAGCTGGGAGATGGTTTGGCTGTGGTATTTGAATGGGAATGTACAGGCACACCTGCCCTCACTGTGGTTCTCAGGGGAGCCACCACCCAGGGGCTG
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>CCT8L2|150160|protein
MDSTVPSALELPQRLALNPRESPRSPEEEEPHLLSSLAAVQTLASVIRPCYGPHGRQKFLVTMKGETVCTGCATAILRALELEHPAAWLLREAGQTQAENSGDGT
AFVVLLTEALLEQAEQLLKAGLPRPQLREAYATATAEVLATLPSLAIQSLGPLEDPSWALHSVMNTHTLSPMDHLTKLVAHACWAIKELDGSFKPERVGVCALPG
GTLEDSCLLPGLAISGKLCGQMATVLSGARVALFACPFGPAHPNAPATARLSSPADLAQFSKGSDQLLEKQVGQLAAAGINVAVVLGEVDEETLTLADKYGIVVI
QARSWMEIIYLSEVLDTPLLPRLLPPQRPGKCQRVYRQELGDGLAVVFEWECTGTPALTVVLRGATTQGLRSAEQAVYHGIDAYFQLCQDPRLIPGAGATEMALA
KMLSDKGSRLEGPSGPAFLAFAWALKYLPKTLAENAGLAVSDVMAEMSGVHQGGNLLMGVGTEGIINVAQEGVWDTLIVKAQGFRAVAEVVLQLVTVDEIVVAKK
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Linkage Studies Top