AutismKB 2.0

Evidence Details for RAD52


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Basic Information Top
Gene Symbol:RAD52 ( - )
Gene Full Name: RAD52 homolog (S. cerevisiae)
Band: 12p13.33
Quick LinksEntrez ID:5893; OMIM: 600392; Uniprot ID:RAD52_HUMAN; ENSEMBL ID: ENSG00000002016; HGNC ID: 9824
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAD52|5893|nucleotide
ATGTCTGGGACTGAGGAAGCAATTCTTGGAGGACGTGACAGCCATCCTGCTGCTGGCGGCGGCTCAGTGTTATGCTTTGGACAGTGCCAGTACACAGCAGAAGAG
TACCAGGCCATCCAGAAGGCCCTGAGGCAGAGGCTGGGCCCAGAATACATAAGTAGCCGCATGGCTGGCGGAGGCCAGAAGGTGTGCTACATTGAGGGTCATCGG
GTAATTAATCTGGCCAATGAGATGTTTGGTTACAATGGCTGGGCACACTCCATCACGCAGCAGAATGTGGATTTTGTTGACCTCAACAATGGCAAGTTCTACGTG
GGAGTCTGTGCATTTGTGAGGGTCCAGCTGAAGGATGGTTCATATCATGAAGATGTTGGTTATGGTGTTAGTGAGGGCCTCAAGTCCAAGGCTTTATCTTTGGAG
AAGGCAAGGAAGGAGGCGGTGACAGACGGGCTGAAGCGAGCCCTCAGGAGTTTTGGGAATGCACTTGGAAACTGTATTCTGGACAAAGACTACCTGAGATCACTA
AATAAGCTTCCACGCCAGTTGCCTCTTGAAGTGGATTTAACTAAAGCGAAGAGACAAGATCTTGAACCGTCTGTGGAGGAGGCAAGATACAACAGCTGCCGACCG
AACATGGCCCTGGGACACCCACAGCTGCAGCAGGTGACCTCCCCTTCCAGACCCAGCCATGCTGTGATACCGGCGGACCAGGACTGCAGCTCCCGAAGCCTGAGC
TCATCCGCCGTGGAGAGCGAGGCCACGCACCAGCGGAAGCTCCGGCAGAAGCAGCTGCAGCAGCAGTTCCGGGAGCGGATGGAGAAGCAGCAGGTTCGAGTCTCC
ACGCCGTCAGCTGAGAAGAGTGAGGCAGCGCCTCCGGCCCCTCCTGTGACGCACAGCACTCCTGTAACTGTCTCAGAACCACTCCTGGAGAAAGACTTCCTTGCA
GGAGTGACTCAAGAATTAATCAAGACTCTTGAAGACAACTCTGAAAAGTGGGCTGTGACTCCCGATGCAGGGGATGGTGTGGTCAAGCCCTCGTCTAGAGCAGAC
CCAGCCCAGACCTCTGACACATTAGCCTTGAACAACCAGATGGTGACCCAGAACAGGACTCCACACAGCGTTTGCCACCAGAAACCACAAGCAAAATCTGGATCT
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>RAD52|5893|protein
MSGTEEAILGGRDSHPAAGGGSVLCFGQCQYTAEEYQAIQKALRQRLGPEYISSRMAGGGQKVCYIEGHRVINLANEMFGYNGWAHSITQQNVDFVDLNNGKFYV
GVCAFVRVQLKDGSYHEDVGYGVSEGLKSKALSLEKARKEAVTDGLKRALRSFGNALGNCILDKDYLRSLNKLPRQLPLEVDLTKAKRQDLEPSVEEARYNSCRP
NMALGHPQLQQVTSPSRPSHAVIPADQDCSSRSLSSSAVESEATHQRKLRQKQLQQQFRERMEKQQVRVSTPSAEKSEAAPPAPPVTHSTPVTVSEPLLEKDFLA
GVTQELIKTLEDNSEKWAVTPDAGDGVVKPSSRADPAQTSDTLALNNQMVTQNRTPHSVCHQKPQAKSGSWDLQTYSADQRTTGNWESHRKSQDMKKRKYDPS

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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) 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
Silva IM, 2014 - aCGH;FISHASD - - - - 1 - 1
Linkage Studies Top