AutismKB 2.0

Evidence Details for C20orf96


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Basic Information Top
Gene Symbol:C20orf96 ( FLJ40075,dJ1103G7.2 )
Gene Full Name: chromosome 20 open reading frame 96
Band: 20p13
Quick LinksEntrez ID:140680; OMIM: NA; Uniprot ID:CT096_HUMAN; ENSEMBL ID: ENSG00000196476; HGNC ID: 16227
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C20orf96|140680|nucleotide
ATGGCGCATGTCTTACAAAAACCCAAGCACTCTGGGACTCACTCCATAGTCCAGGAGTTCCAGGTTCCGGATTATGTTCCATGGCAGCAGTCCAAGCAGGAAACC
AAGCCATCTACTCTGCCTCCAGTCCAACAAGCCAACAGCCTTCATACAAGCAAAATGAAGACTTTGACTAGGGTCCAACCAGTGTTTCACTTCAAGCCCACTACG
GTGGTGACAAGCTGCCAGCCGAAGAATCCAAGAGAACTACATAGAAGGCGGAAGTTGGACCCTGGGAAGATGCATGCCAAAATCTGGTTAATGAAGACGTCGCTC
AGGAGCGGGAGGGCCGCTCTGCGAGAGCTCCGAAGCCGTGAGAACTTCCTCAGCAAGCTCAACCGGGAGCTGATCGAGACCATCCAGGAGATGGAGAACAGCACG
ACCCTGCACGTGCGGGCCCTGCTGCAGCAGCAGGACACCTTGGCGACCATCATCGACATCTTGGAGTACTCAAACAAGAAGAGGCTGCAGCAATTGAAATCTGAG
CTTCAGGAGTGGGAAGAAAAGAAGAAATGCAAGATGAGCTATCTTGAGCAGCAGGCAGAGCAGCTGAATGCCAAGATTGAGAAGACCCAGGAGGAAGTGAACTTC
CTGAGCACTTACATGGACCATGAGTATTCCATCAAGTCTGTCCAGATCTCCACTCTTATGCGCCAGCTGCAGCAGGTTAAGGACAGCCAGCAGGATGAGCTGGAT
GACCTCGGTGAGATGCGCAGAAAGGTCCTGGAATCCTTGTCCGACAAGATTCAGAAGAAGAAGAAAAAAATTCTGAGTTCTGTGGTGGCGGAAACCCAGCGTCCC
TATGAAGAGGCTCTCCTACAGAAGATGTGGGAAAGCCAGGACTTCCTGAAATGCATGCAAAGGTTCAGAGAATTTATTGACCAGTTTGAGGAGAACATGCCTGTA
TTAAGGGCCGAGGTGGAAGAGCTCCAAGCCCAGACCCGGGAACCCCGAGAGGTCATATTTGAGGATGTTCTGCTTCGGAGACCCAAGTGCACCCCAGACATGGAT
GTCATCCTCAACATTCCTGTGGAAGAGCCACTACCCTTCTAG
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>C20orf96|140680|protein
MAHVLQKPKHSGTHSIVQEFQVPDYVPWQQSKQETKPSTLPPVQQANSLHTSKMKTLTRVQPVFHFKPTTVVTSCQPKNPRELHRRRKLDPGKMHAKIWLMKTSL
RSGRAALRELRSRENFLSKLNRELIETIQEMENSTTLHVRALLQQQDTLATIIDILEYSNKKRLQQLKSELQEWEEKKKCKMSYLEQQAEQLNAKIEKTQEEVNF
LSTYMDHEYSIKSVQISTLMRQLQQVKDSQQDELDDLGEMRRKVLESLSDKIQKKKKKILSSVVAETQRPYEEALLQKMWESQDFLKCMQRFREFIDQFEENMPV
LRAEVEELQAQTREPREVIFEDVLLRRPKCTPDMDVILNIPVEEPLPF

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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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