AutismKB 2.0

Evidence Details for C6orf136


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Basic Information Top
Gene Symbol:C6orf136 ( MGC15854 )
Gene Full Name: chromosome 6 open reading frame 136
Band: 6p21.33
Quick LinksEntrez ID:221545; OMIM: NA; Uniprot ID:CF136_HUMAN; ENSEMBL ID: ENSG00000204564; HGNC ID: 21301
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C6orf136|221545|nucleotide
ATGTACCAGCCCAGCCGGGGTGCGGCCCGGCGTCTCGGCCCTTGCCTGCGCGCCTACCAGGCTCGACCCCAGGACCAGCTTTATCCAGGGACTCTACCATTCCCA
CCCCTTTGGCCCCACTCCACGACAACCACTTCCCCATCTTCTCCTCTATTCTGGTCTCCCCTGCCCCCACGCCTTCCCACCCAGCGTCTTCCCCAGGTTCCCCCA
CTACCTCTCCCTCAGATCCAGGCCCTCAGCTCAGCATGGGTGGTTCTCCCTCCAGGAAAGGGGGAGGAGGGACCAGGACCTGAGTTGCATAGCGGCTGCCTGGAT
GGGCTTAGAAGCCTTTTTGAGGGACCTCCCTGCCCCTATCCTGGGGCTTGGATACCTTTCCAAGTCCCTGGAACTGCCCACCCTTCCCCTGCCACCCCGTCAGGA
GATCCTAGTATGGAGGAACATCTGTCTGTCATGTATGAGAGACTGAGACAAGAGCTTCCCAAGCTCTTCCTTCAGTCCCACGACTACAGTCTGTATTCCTTGGAT
GTGGAATTCATCAATGAGATCCTCAACATACGTACCAAGGGCCGGACATGGTACATTCTTTCACTGACCCTCTGCCGTTTCCTGGCCTGGAATTATTTTGCACAC
CTTCGTTTGGAGGTTTTACAGCTGACCCGCCACCCTGAGAACTGGACCCTGCAAGCCCGGTGGCGGCTTGTGGGGCTGCCCGTCCACTTGCTCTTTTTGCGGTTC
TACAAGCGTGACAAAGACGAGCATTACCGGACCTATGATGCCTACTCCACTTTCTACCTGAATTCCAGTGGCCTCATTTGTCGCCATCGTCTAGATAAACTGATG
CCTTCACACTCACCTCCAACGCCTGTGAAGAAGCTGCTAGTGGGAGCCCTGGTGGCCCTGGGGCTGTCAGAGCCAGAACCTGACTTAAACCTGTGTTCCAAGCCC
TGA

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>C6orf136|221545|protein
MYQPSRGAARRLGPCLRAYQARPQDQLYPGTLPFPPLWPHSTTTTSPSSPLFWSPLPPRLPTQRLPQVPPLPLPQIQALSSAWVVLPPGKGEEGPGPELHSGCLD
GLRSLFEGPPCPYPGAWIPFQVPGTAHPSPATPSGDPSMEEHLSVMYERLRQELPKLFLQSHDYSLYSLDVEFINEILNIRTKGRTWYILSLTLCRFLAWNYFAH
LRLEVLQLTRHPENWTLQARWRLVGLPVHLLFLRFYKRDKDEHYRTYDAYSTFYLNSSGLICRHRLDKLMPSHSPPTPVKKLLVGALVALGLSEPEPDLNLCSKP


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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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
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
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
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