AutismKB 2.0

Evidence Details for TCF12


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Basic Information Top
Gene Symbol:TCF12 ( HEB,HTF4,HsT17266,bHLHb20 )
Gene Full Name: transcription factor 12
Band: 15q21.3
Quick LinksEntrez ID:6938; OMIM: 600480; Uniprot ID:HTF4_HUMAN; ENSEMBL ID: ENSG00000140262; HGNC ID: 11623
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TCF12|6938|nucleotide
ATGAATCCCCAGCAACAACGCATGGCCGCTATAGGGACCGACAAGGAGCTGAGCGACCTACTGGACTTCAGTGCGATGTTTTCCCCACCTGTTAATAGTGGGAAA
ACTAGACCAACTACACTGGGAAGCAGTCAATTCAGTGGATCAGGTATTGATGAAAGAGGAGGTACAACATCTTGGGGAACAAGTGGTCAACCAAGTCCTTCCTAT
GATTCATCTAGAGGTTTTACAGACAGCCCTCATTACAGTGATCACTTGAATGACAGTCGATTAGGAGCCCATGAAGGCTTGTCCCCAACACCTTTCATGAACTCA
AATCTGATGGGAAAAACATCAGAGAGAGGCTCATTTTCCCTGTACAGCAGAGATACTGGATTACCAGGCTGTCAATCTAGTCTCCTGAGACAAGATCTGGGGCTT
GGGAGCCCAGCACAGCTATCTTCTTCAGGAAAACCTGGGACAGCATACTATTCATTCTCTGCTACAAGTTCCAGGAGGAGACCACTCCATGACTCTGCAGCGCTT
GATCCCTTGCAAGCAAAAAAAGTCAGAAAGGTGCCTCCTGGTTTGCCTTCTTCTGTATATGCACCATCCCCAAATTCAGATGATTTCAACCGTGAATCTCCTAGT
TATCCATCTCCTAAGCCACCAACCAGTATGTTCGCTAGCACTTTCTTTATGCAAGATGGGACCCACAATTCTTCTGACCTTTGGAGTTCATCAAATGGGATGAGC
CAGCCTGGTTTTGGTGGAATTCTGGGGACCTCCACTTCCCACATGTCTCAATCCAGTAGTTATGGCAACCTTCATTCACATGACCGCTTGAGTTATCCTCCACAC
TCAGTTTCACCAACAGACATAAACACGAGTCTTCCACCAATGTCCAGCTTTCATCGCGGCAGTACCAGCAGTTCACCTTACGTTGCTGCCTCACACACTCCTCCC
ATCAATGGATCAGACAGCATTCTAGGAACCAGAGGGAATGCTGCTGGAAGCTCACAGACAGGTGATGCACTTGGAAAGGCTTTGGCATCTATTTATTCTCCTGAC
CATACCAGCAGTAGTTTTCCGTCAAATCCATCAACACCAGTTGGATCACCTTCACCTCTCACAGGTACCAGTCAGTGGCCAAGACCTGGAGGGCAAGCACCTTCA
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>TCF12|6938|protein
MNPQQQRMAAIGTDKELSDLLDFSAMFSPPVNSGKTRPTTLGSSQFSGSGIDERGGTTSWGTSGQPSPSYDSSRGFTDSPHYSDHLNDSRLGAHEGLSPTPFMNS
NLMGKTSERGSFSLYSRDTGLPGCQSSLLRQDLGLGSPAQLSSSGKPGTAYYSFSATSSRRRPLHDSAALDPLQAKKVRKVPPGLPSSVYAPSPNSDDFNRESPS
YPSPKPPTSMFASTFFMQDGTHNSSDLWSSSNGMSQPGFGGILGTSTSHMSQSSSYGNLHSHDRLSYPPHSVSPTDINTSLPPMSSFHRGSTSSSPYVAASHTPP
INGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPSNPSTPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLQSRMEDRLDRLDDAIHVLRNHAVG
PSTSLPAGHSDIHSLLGPSHNAPIGSLNSNYGGSSLVASSRSASMVGTHREDSVSLNGNHSVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVVTTEIKTENKEK
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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) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 4 (6)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top