AutismKB 2.0

Evidence Details for ENDOG


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Basic Information Top
Gene Symbol:ENDOG ( FLJ27463 )
Gene Full Name: endonuclease G
Band: 9q34.11
Quick LinksEntrez ID:2021; OMIM: 600440; Uniprot ID:NUCG_HUMAN; ENSEMBL ID: ENSG00000167136; HGNC ID: 3346
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ENDOG|2021|nucleotide
ATGCGGGCGCTGCGGGCCGGCCTGACCCTGGCGTCGGGCGCGGGGCTGGGTGCGGTCGTCGAGGGCTGGCGGCGGCGGCGGGAGGACGCGCGGGCGGCGCCGGGA
CTGCTGGGCCGGCTGCCCGTGCTGCCCGTGGCGGCGGCAGCCGAGTTGCCCCCTGTGCCCGGGGGACCCCGCGGCCCGGGCGAGCTGGCCAAGTACGGGCTGCCG
GGGCTGGCGCAGCTCAAGAGCCGCGAGTCGTACGTGCTGTGCTACGACCCGCGCACCCGCGGCGCGCTCTGGGTGGTGGAGCAGCTGCGACCCGAGCGTCTCCGC
GGCGACGGCGACCGGCGCGAGTGCGACTTCCGCGAGGACGACTCGGTGCACGCGTACCACCGTGCCACCAACGCCGACTACCGCGGCAGTGGCTTCGACCGCGGT
CACCTGGCCGCCGCCGCCAACCACCGCTGGAGCCAGAAGGCCATGGACGACACGTTCTACCTGAGCAACGTCGCGCCCCAGGTGCCCCACCTCAACCAGAATGCC
TGGAACAACCTGGAGAAATATAGCCGCAGCTTGACCCGCAGCTACCAAAACGTCTATGTCTGCACAGGGCCACTCTTCCTGCCCAGGACAGAGGCTGATGGGAAA
TCCTACGTAAAGTACCAGGTCATCGGCAAGAACCACGTGGCAGTGCCCACACACTTCTTCAAGGTGCTGATCCTGGAGGCAGCAGGTGGGCAAATTGAGCTCCGC
ACCTACGTGATGCCCAACGCACCTGTGGATGAGGCCATCCCACTGGAGCGCTTCCTGGTGCCCATCGAGAGCATTGAGCGGGCTTCGGGGCTGCTCTTTGTGCCA
AACATCCTGGCGCGGGCAGGCAGCCTCAAGGCCATCACGGCGGGCAGTAAGTGA


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>ENDOG|2021|protein
MRALRAGLTLASGAGLGAVVEGWRRRREDARAAPGLLGRLPVLPVAAAAELPPVPGGPRGPGELAKYGLPGLAQLKSRESYVLCYDPRTRGALWVVEQLRPERLR
GDGDRRECDFREDDSVHAYHRATNADYRGSGFDRGHLAAAANHRWSQKAMDDTFYLSNVAPQVPHLNQNAWNNLEKYSRSLTRSYQNVYVCTGPLFLPRTEADGK
SYVKYQVIGKNHVAVPTHFFKVLILEAAGGQIELRTYVMPNAPVDEAIPLERFLVPIESIERASGLLFVPNILARAGSLKAITAGSK


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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 (1) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 10 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
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