AutismKB 2.0

Evidence Details for EXD2


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Basic Information Top
Gene Symbol:EXD2 ( C14orf114,DKFZp781A0133,DKFZp781L15100,EXDL2,FLJ10738 )
Gene Full Name: exonuclease 3'-5' domain containing 2
Band: 14q24.1
Quick LinksEntrez ID:55218; OMIM: NA; Uniprot ID:EXD2_HUMAN; ENSEMBL ID: ENSG00000081177; HGNC ID: 20217
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EXD2|55218|nucleotide
ATGTCTAGACAGAACTTAGTGGCTTTGACAGTGACTACCCTTCTGGGTGTGGCTGTAGGGGGGTTTGTCCTCTGGAAAGGCATCCAGCGCCGCCGAAGGAGTAAA
ACGAGTCCTGTGACCCAACAGCCACAGCAGAAAGTGCTGGGCAGTAGAGAGCTGCCCCCTCCAGAAGATGATCAGCTGCACTCCAGTGCCCCCAGATCCTCGTGG
AAGGAACGGATCCTTAAAGCAAAGGTGGTGACGGTGTCTCAGGAGGCAGAGTGGGATCAAATCGAGCCCTTGCTTAGAAGTGAATTAGAAGATTTTCCAGTACTT
GGAATTGACTGTGAGTGGGTAAATTTGGAAGGCAAAGCCAGCCCTCTGTCACTTCTACAAATGGCCTCCCCAAGTGGCCTGTGTGTCTTGGTTCGCCTGCCCAAG
CTAATCTGTGGAGGAAAAACACTACCAAGAACGTTATTGGATATTTTGGCAGATGGCACCATTTTGAAAGTTGGAGTGGGATGCTCAGAAGATGCCAGCAAGCTT
CTGCAGGATTATGGCCTCGTTGTTAGGGGGTGCCTGGACCTCCGATACCTAGCCATGCGGCAGAGAAACAATTTGCTCTGTAATGGGCTTAGCCTGAAGTCCCTC
GCTGAGACTGTTTTGAACTTTCCCCTTGACAAGTCCCTTCTACTTCGTTGCAGCAACTGGGATGCTGAGACTCTCACAGAGGACCAGGTAATTTATGCTGCCAGG
GATGCCCAGATTTCAGTGGCTCTCTTTCTTCATCTTCTTGGATACCCTTTCTCTAGGAATTCACCTGGAGAAAAAAACGATGACCACAGTAGCTGGAGAAAAGTC
TTGGAAAAATGCCAGGGTGTGGTCGACATCCCATTTCGAAGCAAAGGAATGAGCAGATTGGGAGAAGAGGTTAATGGGGAAGCAACAGAATCTCAGCAGAAGCCA
AGAAATAAGAAGTCTAAGATGGATGGGATGGTGCCAGGCAACCACCAAGGGAGAGACCCCAGAAAACATAAAAGAAAGCCTCTGGGGGTGGGCTATTCTGCCAGA
AAATCACCTCTTTATGATAACTGCTTTCTCCATGCTCCTGATGGACAGCCCCTCTGCACTTGTGATAGAAGAAAAGCTCAGTGGTACCTGGACAAAGGCATTGGT
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>EXD2|55218|protein
MSRQNLVALTVTTLLGVAVGGFVLWKGIQRRRRSKTSPVTQQPQQKVLGSRELPPPEDDQLHSSAPRSSWKERILKAKVVTVSQEAEWDQIEPLLRSELEDFPVL
GIDCEWVNLEGKASPLSLLQMASPSGLCVLVRLPKLICGGKTLPRTLLDILADGTILKVGVGCSEDASKLLQDYGLVVRGCLDLRYLAMRQRNNLLCNGLSLKSL
AETVLNFPLDKSLLLRCSNWDAETLTEDQVIYAARDAQISVALFLHLLGYPFSRNSPGEKNDDHSSWRKVLEKCQGVVDIPFRSKGMSRLGEEVNGEATESQQKP
RNKKSKMDGMVPGNHQGRDPRKHKRKPLGVGYSARKSPLYDNCFLHAPDGQPLCTCDRRKAQWYLDKGIGELVSEEPFVVKLRFEPAGRPESPGDYYLMVKENLC
VVCGKRDSYIRKNVIPHEYRKHFPIEMKDHNSHDVLLLCTSCHAISNYYDNHLKQQLAKEFQAPIGSEEGLRLLEDPERRQVRSGARALLNAESLPTQRKEELLQ
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018