Evidence Details for IREB2
Basic Information Top
Gene Symbol: | IREB2 ( ACO3,FLJ23381,IRP2,IRP2AD ) |
---|---|
Gene Full Name: | iron-responsive element binding protein 2 |
Band: | 15q25.1 |
Quick Links | Entrez 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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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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MDAPKAGYAFEYLIETLNDSSHKKFFDVSKLGTKYDVLPYSIRVLLEAAVRNCDGFLMKKEDVMNILDWKTKQSNVEVPFFPARVLLQDFTGIPAMVDFAAMREA
VKTLGGDPEKVHPACPTDLTVDHSLQIDFSKCAIQNAPNPGGGDLQKAGKLSPLKVQPKKLPCRGQTTCRGSCDSGELGRNSGTFSSQIENTPILCPFHLQPVPE
PETVLKNQEVEFGRNRERLQFFKWSSRVFKNVAVIPPGTGMAHQINLEYLSRVVFEEKDLLFPDSVVGTDSHITMVNGLGILGWGVGGIETEAVMLGLPVSLTLP
EVVGCELTGSSNPFVTSIDVVLGITKHLRQVGVAGKFVEFFGSGVSQLSIVDRTTIANMCPEYGAILSFFPVDNVTLKHLEHTGFSKAKLESMETYLKAVKLFRN
DQNSSGEPEYSQVIQINLNSIVPSVSGPKRPQDRVAVTDMKSDFQACLNEKVGFKGFQIAAEKQKDIVSIHYEGSEYKLSHGSVVIAAVISCTNNCNPSVMLAAG
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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