AutismKB 2.0

Evidence Details for IREB2


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Basic Information Top
Gene Symbol:IREB2 ( ACO3,FLJ23381,IRP2,IRP2AD )
Gene Full Name: iron-responsive element binding protein 2
Band: 15q25.1
Quick LinksEntrez ID:3658; OMIM: 147582; Uniprot ID:IREB2_HUMAN; ENSEMBL ID: ENSG00000136381; HGNC ID: 6115
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IREB2|3658|nucleotide
ATGGACGCCCCAAAAGCAGGATACGCCTTTGAGTACCTTATTGAAACATTAAATGACAGTTCACATAAGAAGTTCTTCGATGTATCTAAACTTGGCACCAAGTAT
GATGTTCTGCCTTACTCAATACGGGTCTTGTTGGAAGCTGCTGTACGAAATTGTGATGGCTTTTTAATGAAGAAGGAAGATGTTATGAACATTTTAGACTGGAAA
ACCAAACAAAGCAATGTTGAAGTGCCCTTTTTCCCTGCCCGTGTTCTTCTTCAAGATTTTACTGGAATACCAGCAATGGTGGATTTTGCTGCTATGAGGGAGGCA
GTGAAAACTCTTGGAGGTGATCCTGAGAAAGTCCATCCTGCTTGTCCGACAGATCTTACAGTTGACCATTCTTTACAAATTGACTTCAGTAAATGTGCAATACAG
AATGCACCAAATCCTGGAGGTGGTGACCTGCAGAAAGCAGGAAAGCTCTCTCCACTTAAAGTGCAGCCTAAGAAGCTTCCCTGCAGAGGCCAGACTACCTGCCGA
GGATCTTGTGATTCTGGAGAACTAGGCCGAAACTCAGGAACATTTTCTTCGCAGATTGAGAATACACCCATCCTGTGTCCTTTTCATTTGCAACCAGTGCCTGAA
CCTGAAACAGTGTTAAAAAATCAAGAAGTAGAATTCGGCAGAAATCGAGAGAGGCTTCAGTTTTTTAAGTGGAGTTCAAGAGTTTTTAAGAATGTGGCAGTGATC
CCTCCTGGAACTGGAATGGCTCATCAAATAAACTTAGAATATTTGTCAAGAGTGGTTTTTGAAGAAAAAGACCTCCTCTTCCCAGACAGTGTAGTCGGCACAGAT
TCACACATAACGATGGTGAATGGTTTAGGGATTCTGGGGTGGGGGGTTGGAGGCATTGAAACAGAAGCAGTTATGCTTGGTCTGCCAGTTTCTCTTACTTTACCA
GAGGTGGTTGGATGTGAGTTAACTGGGTCATCAAACCCTTTTGTTACATCCATAGATGTTGTTCTTGGTATTACAAAGCACCTCAGGCAAGTAGGAGTGGCTGGA
AAGTTTGTTGAGTTTTTTGGAAGTGGAGTTTCACAATTATCTATAGTTGATCGAACTACAATAGCAAACATGTGTCCGGAATATGGTGCTATCCTCAGCTTTTTC
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>IREB2|3658|protein
MDAPKAGYAFEYLIETLNDSSHKKFFDVSKLGTKYDVLPYSIRVLLEAAVRNCDGFLMKKEDVMNILDWKTKQSNVEVPFFPARVLLQDFTGIPAMVDFAAMREA
VKTLGGDPEKVHPACPTDLTVDHSLQIDFSKCAIQNAPNPGGGDLQKAGKLSPLKVQPKKLPCRGQTTCRGSCDSGELGRNSGTFSSQIENTPILCPFHLQPVPE
PETVLKNQEVEFGRNRERLQFFKWSSRVFKNVAVIPPGTGMAHQINLEYLSRVVFEEKDLLFPDSVVGTDSHITMVNGLGILGWGVGGIETEAVMLGLPVSLTLP
EVVGCELTGSSNPFVTSIDVVLGITKHLRQVGVAGKFVEFFGSGVSQLSIVDRTTIANMCPEYGAILSFFPVDNVTLKHLEHTGFSKAKLESMETYLKAVKLFRN
DQNSSGEPEYSQVIQINLNSIVPSVSGPKRPQDRVAVTDMKSDFQACLNEKVGFKGFQIAAEKQKDIVSIHYEGSEYKLSHGSVVIAAVISCTNNCNPSVMLAAG
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top