AutismKB 2.0

Evidence Details for FAM46C


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Basic Information Top
Gene Symbol:FAM46C ( FLJ20202 )
Gene Full Name: family with sequence similarity 46, member C
Band: 1p12
Quick LinksEntrez ID:54855; OMIM: NA; Uniprot ID:FA46C_HUMAN; ENSEMBL ID: ENSG00000183508; HGNC ID: 24712
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM46C|54855|nucleotide
ATGGCAGAGGAGAGCAGCTGTACCAGGGATTGCATGTCCTTCAGCGTGCTCAACTGGGATCAGGTTAGCCGGCTGCATGAGGTCCTCACTGAAGTTGTACCTATC
CACGGACGAGGCAACTTTCCAACCTTGGAGATAACTCTGAAGGACATCGTCCAGACCGTCCGCAGTCGGCTGGAGGAGGCAGGCATCAAAGTGCACGACGTCCGG
CTGAATGGCTCCGCAGCTGGCCACGTTTTGGTCAAAGACAATGGCTTGGGCTGCAAAGACCTGGACCTAATCTTCCATGTGGCTCTTCCAACAGAGGCAGAATTT
CAGCTGGTTAGAGATGTGGTTCTGTGTTCCCTTCTGAACTTCCTGCCAGAGGGTGTGAACAAGCTCAAAATCAGTCCAGTCACTCTGAAGGAGGCATATGTGCAG
AAGCTAGTGAAGGTTTGCACGGACACTGACCGCTGGAGCCTGATCTCCCTCTCCAACAAGAACGGGAAGAACGTGGAGCTGAAGTTTGTCGACTCCATTCGGCGT
CAGTTTGAGTTCAGTGTGGACTCTTTCCAAATCATCCTGGATTCTTTGCTTTTCTTCTATGACTGTTCCAATAATCCCATCTCTGAGCACTTCCACCCCACCGTG
ATTGGGGAGAGCATGTACGGGGACTTTGAGGAAGCTTTTGACCATCTGCAGAACAGACTGATCGCCACCAAGAACCCAGAAGAAATCAGAGGCGGGGGACTTCTC
AAGTACAGCAACCTTCTTGTGCGGGACTTCAGGCCCACAGACCAGGAAGAAATCAAAACTCTAGAGCGCTACATGTGCTCCAGGTTCTTCATCGACTTCCCGGAC
ATCCTTGAACAGCAGAGGAAGTTGGAGACTTACCTTCAAAACCACTTCGCTGAAGAAGAGAGAAGCAAGTACGACTACCTCATGATCCTTCGCAGGGTGGTGAAC
GAGAGCACCGTGTGTCTCATGGGGCATGAACGCAGGCAGACTCTGAACCTCATCTCCCTCCTGGCCTTGCGTGTGCTGGCGGAACAAAACATCATCCCCAGTGCC
ACCAACGTCACCTGTTACTACCAGCCGGCCCCTTACGTCAGTGATGGCAACTTCAGCAACTACTACGTTGCCCATCCTCCAGTCACCTACAGCCAGCCTTACCCT
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>FAM46C|54855|protein
MAEESSCTRDCMSFSVLNWDQVSRLHEVLTEVVPIHGRGNFPTLEITLKDIVQTVRSRLEEAGIKVHDVRLNGSAAGHVLVKDNGLGCKDLDLIFHVALPTEAEF
QLVRDVVLCSLLNFLPEGVNKLKISPVTLKEAYVQKLVKVCTDTDRWSLISLSNKNGKNVELKFVDSIRRQFEFSVDSFQIILDSLLFFYDCSNNPISEHFHPTV
IGESMYGDFEEAFDHLQNRLIATKNPEEIRGGGLLKYSNLLVRDFRPTDQEEIKTLERYMCSRFFIDFPDILEQQRKLETYLQNHFAEEERSKYDYLMILRRVVN
ESTVCLMGHERRQTLNLISLLALRVLAEQNIIPSATNVTCYYQPAPYVSDGNFSNYYVAHPPVTYSQPYPTWLPCN

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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Risch, 1999 USA microsatellite-based genomic screenPDD 90 - 90 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Nishimura, 2007_1 America lymphoblastoid cell lines 8
(-)
autism with FMR1-FMautism 15
(-)
0.76 Down 0.0000053
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_017709
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Nishimura, 2007_2 America lymphoblastoid cell lines 7
(-)
autism with dup(15q)autism 15
(-)
0.82 Down 0.0000053
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_017709
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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