AutismKB 2.0

Evidence Details for C12orf35


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Basic Information Top
Gene Symbol:C12orf35 ( FLJ10652,FLJ20696 )
Gene Full Name: chromosome 12 open reading frame 35
Band: 12p11.21
Quick LinksEntrez ID:55196; OMIM: NA; Uniprot ID:CL035_HUMAN; ENSEMBL ID: ENSG00000174718; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C12orf35|55196|nucleotide
ATGAATTGGAATGAAAAACCAAAGAGTGCTACATTACCACCACTGTATCCTAAAAGCCAGCCACCTTTTTTGCACCAGTCTTTAATAAACCAAATTACCACAACA
TCTCAGAGTTCTTTCAGCTATCCTGGAAGTAACCAAGAAGCATGCATGTATCCCGGTAATTCAAATCCAATTTCACAGCCACTGCTGAATATCCAAAATTATCCT
CAACAAATTTCTGTTTCTGATATGCATAATGGGACAGTTGTGGCCTCACACACTTCAGTAGAAAGAATAACATATGCAAATGTTAATGGACCCAAACAACTAACT
CACAATTTGCAGATGTCTTCAGGAGTTACCCAAAACGTATGGTTGAACTCACCAATGAGGAATCCTGTGCATTCTCATATAGGGGCAACTGTATCTCATCAAACT
GATTTTGGAGCTAACGTACCCAATATGCCGGCACTACAGAGTCAACTGATAACATCAGATACCTATTCTATGCAAATGCAGATGATCCCTTCTAATTCTACACGA
CTTCCTGTAGCTTACCAAGGAAATCAGGGACTTAACCAGTCTTTTTCAGAGCAACAGGTTGATTGGACACAACAGTGTATATCTAAGGGACTGACTTACCCAGAT
TACAGACCACCTCCAAAGCTATACCGTTACTCACCACAAAGCTTTTTACCAGATTCTACCATTCAAAAACAAAACTTTATACCACATACATCATTGCAAGTTAAA
AATAGTCAGCTTCTAAATTCTGTATTAACTTTACCATCAAGGCAGACCTCAGCTGTACCATCACAGCAGTATGCCACGCAAACTGACAAAAGACCTCCTCCTCCT
CCTTACAACTGTAGATATGGAAGCCAGCCTTTGCAAAGTACTCAGCATATTACTAAACACTTGTCTATGGAAGTTCCTCAGAGTCGAGAAATGCTGTCATCTGAA
ATAAGGACCAGCTTTCAACAGCAGTGGCAAAACCCTAATGAAAATGTCAGCACAATTGGAAATTTCACTAACTTGAAAGTAAATACCAACAGCAAACAGCCTTTT
AACAGTCCCATTAGATCTTCTGTGGATGGTGTTCAGACTCTTGCTCAAACTAATGAAGAGAAAATAATGGATTCTTGCAATCCAACTTCAAATCAAGTACTGGAC
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>C12orf35|55196|protein
MNWNEKPKSATLPPLYPKSQPPFLHQSLINQITTTSQSSFSYPGSNQEACMYPGNSNPISQPLLNIQNYPQQISVSDMHNGTVVASHTSVERITYANVNGPKQLT
HNLQMSSGVTQNVWLNSPMRNPVHSHIGATVSHQTDFGANVPNMPALQSQLITSDTYSMQMQMIPSNSTRLPVAYQGNQGLNQSFSEQQVDWTQQCISKGLTYPD
YRPPPKLYRYSPQSFLPDSTIQKQNFIPHTSLQVKNSQLLNSVLTLPSRQTSAVPSQQYATQTDKRPPPPPYNCRYGSQPLQSTQHITKHLSMEVPQSREMLSSE
IRTSFQQQWQNPNENVSTIGNFTNLKVNTNSKQPFNSPIRSSVDGVQTLAQTNEEKIMDSCNPTSNQVLDTSVAKEKLVRDIKTLVEIKQKFSELARKIKINKDL
LMAAGCIKMTNTSYSEPAQNSKLSLKQTAKIQSGPQITPVMPENAERQTPTVVESAETNKTQCMLNSDIQEVNCRRFNQVDSVLPNPVYSEKRPMPDPSHDVKVL
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Soysal, 2011 - aCGH--ASD - - - - 1 - 1
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
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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