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