AutismKB 2.0

Evidence Details for DDIT3


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Basic Information Top
Gene Symbol:DDIT3 ( CEBPZ,CHOP,CHOP-10,CHOP10,GADD153,MGC4154 )
Gene Full Name: DNA-damage-inducible transcript 3
Band: 12q13.3
Quick LinksEntrez ID:1649; OMIM: 126337; Uniprot ID:DDIT3_HUMAN; ENSEMBL ID: ENSG00000175197; HGNC ID: 2726
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDIT3|1649|nucleotide
ATGGAGCTTGTTCCAGCCACTCCCCATTATCCTGCAGATGTGCTTTTCCAGACTGATCCAACTGCAGAGATGGCAGCTGAGTCATTGCCTTTCTCCTTCGGGACA
CTGTCCAGCTGGGAGCTGGAAGCCTGGTATGAGGACCTGCAAGAGGTCCTGTCTTCAGATGAAAATGGGGGTACCTATGTTTCACCTCCTGGAAATGAAGAGGAA
GAATCAAAAATCTTCACCACTCTTGACCCTGCTTCTCTGGCTTGGCTGACTGAGGAGGAGCCAGAACCAGCAGAGGTCACAAGCACCTCCCAGAGCCCTCACTCT
CCAGATTCCAGTCAGAGCTCCCTGGCTCAGGAGGAAGAGGAGGAAGACCAAGGGAGAACCAGGAAACGGAAACAGAGTGGTCATTCCCCAGCCCGGGCTGGAAAG
CAGCGCATGAAGGAGAAAGAACAGGAGAATGAAAGGAAAGTGGCACAGCTAGCTGAAGAGAATGAACGGCTCAAGCAGGAAATCGAGCGCCTGACCAGGGAAGTA
GAGGCGACTCGCCGAGCTCTGATTGACCGAATGGTGAATCTGCACCAAGCATGA





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>DDIT3|1649|protein
MELVPATPHYPADVLFQTDPTAEMAAESLPFSFGTLSSWELEAWYEDLQEVLSSDENGGTYVSPPGNEEEESKIFTTLDPASLAWLTEEEPEPAEVTSTSQSPHS
PDSSQSSLAQEEEEEDQGRTRKRKQSGHSPARAGKQRMKEKEQENERKVAQLAEENERLKQEIERLTREVEATRRALIDRMVNLHQA



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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) 0 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top