Evidence Details for CBFA2T3
Basic Information Top
Gene Symbol: | CBFA2T3 ( ETO2,MTG16,MTGR2,ZMYND4 ) |
---|---|
Gene Full Name: | core-binding factor, runt domain, alpha subunit 2; translocated to, 3 |
Band: | 16q24.3 |
Quick Links | Entrez ID:863; OMIM: 603870; Uniprot ID:MTG16_HUMAN; ENSEMBL ID: ENSG00000129993; HGNC ID: 1537 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CBFA2T3|863|nucleotide
ATGCCGGCTTCAAGACTGAGGGACAGGGCAGCCAGTTCAGCCTCGGGATCCACCTGTGGCTCCATGTCCCAGACGCACCCTGTGCTGGAGAGCGGCCTCCTGGCA
TCTGCCGGCTGCTCCGCACCCCGGGGTCCCAGGAAGGGCGGCCCAGCCCCAGTGGACAGGAAAGCTAAGGCCTCAGCGATGCCGGACTCCCCAGCGGAGGTGAAG
ACGCAGCCCCGGTCCACACCCCCCAGCATGCCGCCCCCACCGCCTGCCGCATCCCAGGGGGCCACACGCCCCCCCTCCTTCACGCCACACACACATCGAGAGGAC
GGGCCTGCGACGCTGCCCCACGGCCGTTTTCATGGCTGCTTAAAATGGTCTATGGTCTGTCTCTTGATGAACGGCAGCAGCCACTCACCAACAGCCATCAATGGT
GCACCGTGCACACCCAACGGCTTCAGCAATGGCCCGGCCACCTCGTCCACAGCCTCCTTGTCCACACAGCACCTGCCCCCAGCCTGCGGGGCCCGGCAGCTCAGC
AAGCTCAAGCGCTTCCTCACCACACTGCAGCAGTTTGGCAGCGACATCTCCCCAGAGATTGGGGAGCGCGTGCGCACACTGGTGCTGGGCCTGGTGAACTCGACA
TTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGCAAACCTGCCCTTGCTGCAGCGG
GAGCTCCTGCACTGTGCACGCCTGGCCAAGCAGACGCCCGCCCAGTACTTGGCCCAGCATGAGCAGCTCCTGCTGGACGCCAGCGCCTCCTCCCCCATCGACTCC
TCAGAGCTGCTACTGGAAGTCAACGAGAACGGCAAGAGGAGGACGCCCGACAGGACCAAAGAGAACGGGTCAGACCGCGACCCGCTGCACCCCGAGCACCTCAGC
AAACGGCCATGCACCCTGAACCCTGCCCAGCGCTACAGCCCCAGCAACGGGCCACCGCAGCCCACACCGCCGCCGCACTACCGCCTGGAGGACATAGCCATGGCC
CACCACTTCCGAGATGCCTACCGCCACCCAGACCCCCGGGAGCTACGAGAGCGCCATCGGCCGCTTGTGGTGCCTGGGTCCCGGCAGGAAGAAGTGATCGACCAC
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ATGCCGGCTTCAAGACTGAGGGACAGGGCAGCCAGTTCAGCCTCGGGATCCACCTGTGGCTCCATGTCCCAGACGCACCCTGTGCTGGAGAGCGGCCTCCTGGCA
TCTGCCGGCTGCTCCGCACCCCGGGGTCCCAGGAAGGGCGGCCCAGCCCCAGTGGACAGGAAAGCTAAGGCCTCAGCGATGCCGGACTCCCCAGCGGAGGTGAAG
ACGCAGCCCCGGTCCACACCCCCCAGCATGCCGCCCCCACCGCCTGCCGCATCCCAGGGGGCCACACGCCCCCCCTCCTTCACGCCACACACACATCGAGAGGAC
GGGCCTGCGACGCTGCCCCACGGCCGTTTTCATGGCTGCTTAAAATGGTCTATGGTCTGTCTCTTGATGAACGGCAGCAGCCACTCACCAACAGCCATCAATGGT
GCACCGTGCACACCCAACGGCTTCAGCAATGGCCCGGCCACCTCGTCCACAGCCTCCTTGTCCACACAGCACCTGCCCCCAGCCTGCGGGGCCCGGCAGCTCAGC
AAGCTCAAGCGCTTCCTCACCACACTGCAGCAGTTTGGCAGCGACATCTCCCCAGAGATTGGGGAGCGCGTGCGCACACTGGTGCTGGGCCTGGTGAACTCGACA
TTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGCAAACCTGCCCTTGCTGCAGCGG
GAGCTCCTGCACTGTGCACGCCTGGCCAAGCAGACGCCCGCCCAGTACTTGGCCCAGCATGAGCAGCTCCTGCTGGACGCCAGCGCCTCCTCCCCCATCGACTCC
TCAGAGCTGCTACTGGAAGTCAACGAGAACGGCAAGAGGAGGACGCCCGACAGGACCAAAGAGAACGGGTCAGACCGCGACCCGCTGCACCCCGAGCACCTCAGC
AAACGGCCATGCACCCTGAACCCTGCCCAGCGCTACAGCCCCAGCAACGGGCCACCGCAGCCCACACCGCCGCCGCACTACCGCCTGGAGGACATAGCCATGGCC
CACCACTTCCGAGATGCCTACCGCCACCCAGACCCCCGGGAGCTACGAGAGCGCCATCGGCCGCTTGTGGTGCCTGGGTCCCGGCAGGAAGAAGTGATCGACCAC
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>CBFA2T3|863|protein
MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPAPVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHRED
GPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNST
LTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLS
KRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVL
RRCQEADREELNHWARRYSDAEDTKKGPAPAAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERA
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MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPAPVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHRED
GPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNST
LTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLS
KRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVL
RRCQEADREELNHWARRYSDAEDTKKGPAPAAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERA
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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 | ||||||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 | ||
Willemsen, 2010 | - | SNP microarray | ASD | 3 | - | - | - | - | - | - |
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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