AutismKB 2.0

Evidence Details for RUNX2


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Basic Information Top
Gene Symbol:RUNX2 ( AML3,CBFA1,CCD,CCD1,MGC120022,MGC120023,OSF-2,OSF2,PEA2aA,PEBP2A1,PEBP2A2,PEBP2aA,PEBP2aA1 )
Gene Full Name: runt-related transcription factor 2
Band: 6p21.1
Quick LinksEntrez ID:860; OMIM: 600211; Uniprot ID:RUNX2_HUMAN; ENSEMBL ID: ENSG00000124813; HGNC ID: 10472
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RUNX2|860|nucleotide
ATGGCATCAAACAGCCTCTTCAGCACAGTGACACCATGTCAGCAAAACTTCTTTTGGGATCCGAGCACCAGCCGGCGCTTCAGCCCCCCCTCCAGCAGCCTGCAG
CCCGGCAAAATGAGCGACGTGAGCCCGGTGGTGGCTGCGCAACAGCAGCAGCAACAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAG
CAGGAGGCGGCGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGCGGCCGCCCCACGACAACCGCACCATGGTGGAGATC
ATCGCCGACCACCCGGCCGAACTCGTCCGCACCGACAGCCCCAACTTCCTGTGCTCGGTGCTGCCCTCGCACTGGCGCTGCAACAAGACCCTGCCCGTGGCCTTC
AAGGTGGTAGCCCTCGGAGAGGTACCAGATGGGACTGTGGTTACTGTCATGGCGGGTAACGATGAAAATTATTCTGCTGAGCTCCGGAATGCCTCTGCTGTTATG
AAAAACCAAGTAGCAAGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGCAAGAGTTTCACCTTGACCATAACCGTCTTCACAAATCCTCCCCAAGTA
GCTACCTATCACAGAGCAATTAAAGTTACAGTAGATGGACCTCGGGAACCCAGAAGGCACAGACAGAAGCTTGATGACTCTAAACCTAGTTTGTTCTCTGACCGC
CTCAGTGATTTAGGGCGCATTCCTCATCCCAGTATGAGAGTAGGTGTCCCGCCTCAGAACCCACGGCCCTCCCTGAACTCTGCACCAAGTCCTTTTAATCCACAA
GGACAGAGTCAGATTACAGACCCCAGGCAGGCACAGTCTTCCCCGCCGTGGTCCTATGACCAGTCTTACCCCTCCTACCTGAGCCAGATGACGTCCCCGTCCATC
CACTCTACCACCCCGCTGTCTTCCACACGGGGCACTGGGCTTCCTGCCATCACCGATGTGCCTAGGCGCATTTCAGGTGCTTCAGAACTGGGCCCTTTTTCAGAC
CCCAGGCAGTTCCCAAGCATTTCATCCCTCACTGAGAGCCGCTTCTCCAACCCACGAATGCACTATCCAGCCACCTTTACTTACACCCCGCCAGTCACCTCAGGC
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>RUNX2|860|protein
MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQQQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEI
IADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQV
ATYHRAIKVTVDGPREPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYDQSYPSYLSQMTSPSI
HSTTPLSSTRGTGLPAITDVPRRISGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSST
PYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY
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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) 1 (3) 0 (0) 0 (0) 0 (0) 12 (5)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top