AutismKB 2.0

Evidence Details for FAM82A1


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Basic Information Top
Gene Symbol:FAM82A1 ( FAM82A,FLJ32954,FLJ38143,MGC33318,PRO34163,PYST9371,RMD2,RMD4 )
Gene Full Name: family with sequence similarity 82, member A1
Band: 2p22.2
Quick LinksEntrez ID:151393; OMIM: 611872; Uniprot ID:RMD2_HUMAN; ENSEMBL ID: ENSG00000115841; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM82A1|151393|nucleotide
ATGCCTTATTCCACAAACAAAGAGTTGATACTTGGCATCATGGTGGGCACTGCTGGAATCAGCTTGCTGCTCTTGTGGTACCACAAGGTCCGTAAACCAGGGATA
GCAATGAAGTTACCTGAATTTCTTTCTCTGGGTAATACATTTAATTCAATAACTTTGCAAGATGAAATACATGATGACCAAGGAACAACAGTAATCTTTCAAGAA
AGGCAACTTCAGATACTGGAGAAGTTAAACGAATTACTGACAAATATGGAAGAACTCAAAGAGGAAATCAGATTTCTTAAAGAAGCTATTCCAAAGCTGGAGGAA
TATATACAAGATGAACTTGGAGGGAAAATAACTGTTCATAAGATAAGCCCTCAGCACAGAGCGAGAAAAAGAAGACTCCCCACAATTCAAAGTTCAGCAACAAGT
AATAGTTCAGAGGAAGCAGAAAGTGAAGGAGGGTATATTACAGCTAATACTGACACAGAAGAACAGAGTTTTCCAGTCCCTAAGGCATTTAACACACGTGTAGAG
GAATTAAATTTAGATGTCCTTCTTCAGAAGGTAGATCATTTACGTATGAGTGAGTCTGGCAAGTCGGAGAGTTTTGAACTACTTCGTGACCACAAAGAAAAGTTT
AGAGATGAAATAGAGTTTATGTGGCGATTTGCTCGTGCTTATGGAGACATGTATGAACTATCTACAAACACACAAGAAAAGAAACATTATGCTAATATTGGAAAA
ACTTTAAGTGAAAGAGCTATTAATAGAGCACCCATGAATGGACATTGTCATCTGTGGTATGCAGTTTTGTGTGGCTATGTATCTGAGTTTGAGGGTTTACAAAAC
AAAATCAACTATGGGCACCTCTTCAAGGAACATCTAGATATAGCAATCAAACTTTTACCAGAGGAACCCTTTCTATATTACCTCAAAGGGAGATACTGCTATACT
GTCTCAAAACTGAGCTGGATTGAGAAAAAAATGGCTGCTACTCTGTTTGGAAAAATACCATCTTCAACTGTACAAGAAGCTTTACACAATTTCCTTAAGGCTGAA
GAACTATGCCCTGGTTATTCTAATCCCAATTACATGTACTTAGCAAAGTGTTATACTGATCTTGAGGAAAACCAGAATGCTTTGAAGTTCTGTAATTTGGCTTTA
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>FAM82A1|151393|protein
MPYSTNKELILGIMVGTAGISLLLLWYHKVRKPGIAMKLPEFLSLGNTFNSITLQDEIHDDQGTTVIFQERQLQILEKLNELLTNMEELKEEIRFLKEAIPKLEE
YIQDELGGKITVHKISPQHRARKRRLPTIQSSATSNSSEEAESEGGYITANTDTEEQSFPVPKAFNTRVEELNLDVLLQKVDHLRMSESGKSESFELLRDHKEKF
RDEIEFMWRFARAYGDMYELSTNTQEKKHYANIGKTLSERAINRAPMNGHCHLWYAVLCGYVSEFEGLQNKINYGHLFKEHLDIAIKLLPEEPFLYYLKGRYCYT
VSKLSWIEKKMAATLFGKIPSSTVQEALHNFLKAEELCPGYSNPNYMYLAKCYTDLEENQNALKFCNLALLLPTVTKEDKEAQKEMQKIMTSLKR

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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 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
(-)
1.47 Up 0.00000041
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_144713
  • 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
(-)
1.35 Up 0.00000041
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_144713
  • 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