AutismKB 2.0

Evidence Details for IRF2


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Basic Information Top
Gene Symbol:IRF2 ( DKFZp686F0244,IRF-2 )
Gene Full Name: interferon regulatory factor 2
Band: 4q35.1
Quick LinksEntrez ID:3660; OMIM: 147576; Uniprot ID:IRF2_HUMAN; ENSEMBL ID: ENSG00000168310; HGNC ID: 6117
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IRF2|3660|nucleotide
ATGCCGGTGGAAAGGATGCGCATGCGCCCGTGGCTGGAGGAGCAGATAAACTCCAACACGATCCCGGGGCTCAAGTGGCTTAACAAGGAAAAGAAGATTTTTCAG
ATCCCCTGGATGCATGCGGCTAGACATGGGTGGGATGTGGAAAAAGATGCACCACTCTTTAGAAACTGGGCAATCCATACAGGAAAGCATCAACCAGGAGTAGAT
AAACCTGATCCCAAAACATGGAAGGCGAATTTCAGATGCGCCATGAATTCCTTGCCTGATATTGAAGAAGTCAAGGATAAAAGCATAAAGAAAGGAAATAATGCC
TTCAGGGTCTACCGAATGCTGCCCCTATCAGAACGGCCTTCTAAGAAAGGAAAGAAACCAAAGACAGAAAAAGAAGACAAAGTTAAGCACATCAAGCAAGAACCA
GTTGAGTCATCTCTGGGGCTTAGTAATGGAGTAAGTGATCTTTCTCCTGAGTATGCGGTCCTGACTTCAACTATAAAAAATGAAGTGGATAGTACGGTGAACATC
ATAGTTGTAGGACAGTCCCATCTGGACAGCAACATTGAGAATCAAGAGATTGTCACCAATCCGCCAGACATTTGCCAAGTTGTAGAGGTGACCACTGAGAGCGAC
GAGCAGCCGGTCAGCATGAGCGAGCTCTACCCTCTGCAGATCTCCCCCGTGTCTTCCTATGCAGAAAGCGAAACGACTGATAGTGTGCCCAGCGATGAAGAGAGT
GCCGAGGGGCGGCCACACTGGCGGAAGAGGAATATTGAAGGCAAACAGTACCTCAGCAACATGGGGACTCGAGGCTCCTACCTGCTGCCCGGCATGGCGTCCTTC
GTCACTTCCAACAAACCGGACCTCCAGGTCACCATCAAAGAGGAGAGCAATCCGGTGCCTTACAACAGCTCCTGGCCCCCTTTTCAAGACCTCCCCCTTTCTTCC
TCCATGACCCCAGCATCCAGCAGCAGTCGGCCAGACCGGGAGACCCGGGCCAGCGTCATCAAGAAAACATCGGATATCACCCAGGCCCGCGTCAAGAGCTGTTAA

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>IRF2|3660|protein
MPVERMRMRPWLEEQINSNTIPGLKWLNKEKKIFQIPWMHAARHGWDVEKDAPLFRNWAIHTGKHQPGVDKPDPKTWKANFRCAMNSLPDIEEVKDKSIKKGNNA
FRVYRMLPLSERPSKKGKKPKTEKEDKVKHIKQEPVESSLGLSNGVSDLSPEYAVLTSTIKNEVDSTVNIIVVGQSHLDSNIENQEIVTNPPDICQVVEVTTESD
EQPVSMSELYPLQISPVSSYAESETTDSVPSDEESAEGRPHWRKRNIEGKQYLSNMGTRGSYLLPGMASFVTSNKPDLQVTIKEESNPVPYNSSWPPFQDLPLSS
SMTPASSSSRPDRETRASVIKKTSDITQARVKSC

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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
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