AutismKB 2.0

Evidence Details for CBFA2T2


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Basic Information Top
Gene Symbol:CBFA2T2 ( DKFZp313F2116,EHT,MTGR1,ZMYND3,p85 )
Gene Full Name: core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Band: 20q11.21-q11.22
Quick LinksEntrez ID:9139; OMIM: 603672; Uniprot ID:MTG8R_HUMAN; ENSEMBL ID: ENSG00000078699; HGNC ID: 1536
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CBFA2T2|9139|nucleotide
ATGGTAGGCGTCCCTGGAGCGGCCGCCTTCCAGCTTGGTCCTGAGAAAAGGGTGCCAGCGATGCCTGGATCGCCTGTGGAAGTGAAGATACAGTCCAGATCCTCA
CCTCCCACCATGCCACCCCTCCCACCAATAAATCCTGGAGGACCGAGGCCAGTGTCCTTCACTCCTACTGCATTAAGCAATGGCATCAACCATTCTCCTCCTACC
CTGAATGGTGCCCCATCACCGCCACAGAGATTCAGCAATGGTCCTGCCTCCTCCACATCATCTGCACTCACAAATCAGCAATTGCCAGCCACTTGTGGTGCTCGA
CAACTCAGCAAGTTGAAACGCTTTCTTACCACTCTGCAACAGTTTGGCAATGACATCTCCCCTGAGATTGGGGAGAAGGTGCGGACTCTTGTTCTTGCACTGGTG
AACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGCCAACCTGCCCCTG
CTGCAGCGGGAACTGCTGCACTGCGCTCGGGCGGCCAAGCAGACCCCATCCCAGTACCTGGCTCAGCACGAACACCTTCTGCTCAACACAAGCATTGCATCGCCT
GCTGACTCGTCAGAGTTGCTCATGGAGGTGCACGGAAATGGGAAGAGGCCCAGTCCAGAGAGGAGAGAAGAGAATAGTTTTGATAGAGACACAATTGCTCCTGAG
CCTCCTGCCAAGAGAGTATGTACCATCAGCCCTGCTCCTCGGCACAGTCCTGCTCTCACTGTGCCCCTCATGAATCCCGGGGGCCAATTCCATCCTACCCCTCCA
CCTCTTCAGCATTACACCTTAGAGGATATTGCAACTTCTCACCTGTATCGGGAACCCAACAAGATGCTAGAGCATCGAGAAGTTCGTGATAGACACCACAGTCTT
GGTCTAAATGGAGGCTATCAAGATGAGTTGGTAGATCATCGTTTGACAGAAAGGGAATGGGCTGATGAATGGAAACATCTTGACCATGCGCTGAATTGCATTATG
GAAATGGTAGAGAAAACAAGGCGCTCTATGGCAGTTCTGCGGCGCTGTCAGGAATCAGATCGTGAAGAACTCAACTACTGGAAAAGACGGTACAATGAAAACACA
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>CBFA2T2|9139|protein
MVGVPGAAAFQLGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGAR
QLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASP
ADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSL
GLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPG
TGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHK
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top