AutismKB 2.0

Evidence Details for CBFA2T3


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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 LinksEntrez 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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>CBFA2T3|863|protein
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
Willemsen, 2010 - SNP microarrayASD 3 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top