AutismKB 2.0

Evidence Details for XRCC6


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Basic Information Top
Gene Symbol:XRCC6 ( CTC75,CTCBF,G22P1,KU70,ML8,TLAA )
Gene Full Name: X-ray repair complementing defective repair in Chinese hamster cells 6
Band: 22q13.2
Quick LinksEntrez ID:2547; OMIM: 152690; Uniprot ID:XRCC6_HUMAN; ENSEMBL ID: ENSG00000196419; HGNC ID: 4055
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>XRCC6|2547|nucleotide
ATGTCAGGGTGGGAGTCATATTACAAAACCGAGGGCGATGAAGAAGCAGAGGAAGAACAAGAAGAGAACCTTGAAGCAAGTGGAGACTATAAATATTCAGGAAGA
GATAGTTTGATTTTTTTGGTTGATGCCTCCAAGGCTATGTTTGAATCTCAGAGTGAAGATGAGTTGACACCTTTTGACATGAGCATCCAGTGTATCCAAAGTGTG
TACATCAGTAAGATCATAAGCAGTGATCGAGATCTCTTGGCTGTGGTGTTCTATGGTACCGAGAAAGACAAAAATTCAGTGAATTTTAAAAATATTTACGTCTTA
CAGGAGCTGGATAATCCAGGTGCAAAACGAATTCTAGAGCTTGACCAGTTTAAGGGGCAGCAGGGACAAAAACGTTTCCAAGACATGATGGGCCACGGATCTGAC
TACTCACTCAGTGAAGTGCTGTGGGTCTGTGCCAACCTCTTTAGTGATGTCCAATTCAAGATGAGTCATAAGAGGATCATGCTGTTCACCAATGAAGACAACCCC
CATGGCAATGACAGTGCCAAAGCCAGCCGGGCCAGGACCAAAGCCGGTGATCTCCGAGATACAGGCATCTTCCTTGACTTGATGCACCTGAAGAAACCTGGGGGC
TTTGACATATCCTTGTTCTACAGAGATATCATCAGCATAGCAGAGGATGAGGACCTCAGGGTTCACTTTGAGGAATCCAGCAAGCTAGAAGACCTGTTGCGGAAG
GTTCGCGCCAAGGAGACCAGGAAGCGAGCACTCAGCAGGTTAAAGCTGAAGCTCAACAAAGATATAGTGATCTCTGTGGGCATTTATAATCTGGTCCAGAAGGCT
CTCAAGCCTCCTCCAATAAAGCTCTATCGGGAAACAAATGAACCAGTGAAAACCAAGACCCGGACCTTTAATACAAGTACAGGCGGTTTGCTTCTGCCTAGCGAT
ACCAAGAGGTCTCAGATCTATGGGAGTCGTCAGATTATACTGGAGAAAGAGGAAACAGAAGAGCTAAAACGGTTTGATGATCCAGGTTTGATGCTCATGGGTTTC
AAGCCGTTGGTACTGCTGAAGAAACACCATTACCTGAGGCCCTCCCTGTTCGTGTACCCAGAGGAGTCGCTGGTGATTGGGAGCTCAACCCTGTTCAGTGCTCTG
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>XRCC6|2547|protein
MSGWESYYKTEGDEEAEEEQEENLEASGDYKYSGRDSLIFLVDASKAMFESQSEDELTPFDMSIQCIQSVYISKIISSDRDLLAVVFYGTEKDKNSVNFKNIYVL
QELDNPGAKRILELDQFKGQQGQKRFQDMMGHGSDYSLSEVLWVCANLFSDVQFKMSHKRIMLFTNEDNPHGNDSAKASRARTKAGDLRDTGIFLDLMHLKKPGG
FDISLFYRDIISIAEDEDLRVHFEESSKLEDLLRKVRAKETRKRALSRLKLKLNKDIVISVGIYNLVQKALKPPPIKLYRETNEPVKTKTRTFNTSTGGLLLPSD
TKRSQIYGSRQIILEKEETEELKRFDDPGLMLMGFKPLVLLKKHHYLRPSLFVYPEESLVIGSSTLFSALLIKCLEKEVAALCRYTPRRNIPPYFVALVPQEEEL
DDQKIQVTPPGFQLVFLPFADDKRKMPFTEKIMATPEQVGKMKAIVEKLRFTYRSDSFENPVLQQHFRNLEALALDLMEPEQAVDLTLPKVEAMNKRLGSLVDEF
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top