AutismKB 2.0

Evidence Details for RFX2


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Basic Information Top
Gene Symbol:RFX2 ( FLJ14226 )
Gene Full Name: regulatory factor X, 2 (influences HLA class II expression)
Band: 19p13.3
Quick LinksEntrez ID:5990; OMIM: 142765; Uniprot ID:RFX2_HUMAN; ENSEMBL ID: ENSG00000087903; HGNC ID: 9983
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RFX2|5990|nucleotide
ATGCAGAATTCCGAGGGTGGAGCGGATTCGCCAGCGTCCGTGGCTCTGCGTCCCTCGGCGGCAGCCCCGCCTGTGCCAGCCTCCCCGCAGAGGGTGTTGGTCCAG
GCAGCCAGCTCCAATCCCAAAGGGGCCCAGATGCAGCCGATCTCCCTCCCCAGAGTTCAGCAGGTACCCCAGCAGGTGCAGCCGGTGCAGCACGTGTATCCTGCC
CAGGTGCAGTACGTGGAAGGGGGAGACGCCGTCTACACCAATGGAGCCATACGAACAGCCTACACCTACAACCCCGAGCCTCAGATGTACGCCCCCAGCAGCACG
GCTTCTTACTTCGAGGCCCCAGGCGGTGCCCAGGTGACCGTGGCAGCCTCGTCCCCGCCAGCGGTCCCCTCCCACAGCATGGTGGGCATCACCATGGATGTCGGG
GGGAGCCCCATCGTCTCCAGCGCGGGAGCCTATCTCATCCACGGGGGGATGGACAGCACCAGACACTCCCTGGCCCACACCTCCCGCTCATCGCCCGCCACGCTT
GAAATGGCGATTGAAAACCTCCAAAAAAGCGAAGGAATCACATCACACAAAAGCGGTTTACTCAACAGCCATCTCCAGTGGCTGTTGGATAATTATGAAACAGCG
GAAGGTGTGAGTCTCCCCAGAAGTTCTCTTTACAACCACTACCTTCGGCACTGCCAGGAGCACAAGCTAGACCCAGTGAACGCCGCCTCCTTCGGGAAACTGATC
CGTTCTGTGTTTATGGGGCTGAGAACGCGGCGGCTGGGCACCAGGGGCAACTCGAAGTACCATTACTATGGGATTCGTCTGAAGCCGGACTCACCACTGAACCGG
CTGCAGGAGGACACGCAGTACATGGCCATGCGGCAGCAGCCCATGCACCAGAAGCCCAGGTACCGGCCAGCCCAGAAGACGGACAGCCTCGGGGACAGCGGCTCC
CACAGCGGCCTGCACAGCACTCCGGAACAGACCATGGCCGTGCAGAGCCAGCACCACCAGCAGTACATAGATGTCTCCCACGTCTTCCCCGAGTTCCCAGCGCCC
GACCTGGGCAGCTTCCTGCTGCAGGACGGCGTCACACTGCACGACGTCAAGGCCCTGCAGCTGGTGTACAGACGGCACTGCGAGGCAACTGTAGATGTGGTGATG
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>RFX2|5990|protein
MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGAQMQPISLPRVQQVPQQVQPVQHVYPAQVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAPSST
ASYFEAPGGAQVTVAASSPPAVPSHSMVGITMDVGGSPIVSSAGAYLIHGGMDSTRHSLAHTSRSSPATLEMAIENLQKSEGITSHKSGLLNSHLQWLLDNYETA
EGVSLPRSSLYNHYLRHCQEHKLDPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDSPLNRLQEDTQYMAMRQQPMHQKPRYRPAQKTDSLGDSGS
HSGLHSTPEQTMAVQSQHHQQYIDVSHVFPEFPAPDLGSFLLQDGVTLHDVKALQLVYRRHCEATVDVVMNLQFHYIEKLWLSFWNSKASSSDGPTSLPASDEDP
EGAVLPKDKLISLCQCDPILRWMRSCDHILYQALVEILIPDVLRPVPSTLTQAIRNFAKSLEGWLTNAMSDFPQQVIQTKVGVVSAFAQTLRRYTSLNHLAQAAR
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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (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
Schellenberg, 2006 USA microsatellite-based genomic screenautism 222 - 222 - - - -
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
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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  (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