Evidence Details for TCF4
Basic Information Top
| Gene Symbol: | TCF4 ( E2-2,ITF2,MGC149723,MGC149724,PTHS,SEF2,SEF2-1,SEF2-1A,SEF2-1B,bHLHb19 ) |
|---|---|
| Gene Full Name: | transcription factor 4 |
| Band: | 18q21.2 |
| Quick Links | Entrez ID:6925; OMIM: 602272; Uniprot ID:ITF2_HUMAN; ENSEMBL ID: ENSG00000196628; HGNC ID: 11634 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TCF4|6925|nucleotide
ATGCATCACCAACAGCGAATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAAT
GGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAAC
TATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAA
AGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCG
CCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAA
GTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACT
TTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCT
TCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATG
TCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCC
GGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGC
TCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGA
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ATGCATCACCAACAGCGAATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAAT
GGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAAC
TATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAA
AGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCG
CCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAA
GTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACT
TTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCT
TCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATG
TCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCC
GGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGC
TCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGA
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>TCF4|6925|protein
MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTE
RGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATST
FPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAA
GSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQD
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MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTE
RGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATST
FPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAA
GSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQD
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (4) | 0 (0) | 0 (0) | 0 (0) | 3 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Krumm N, 2015 | - | - | - | - | - | 1266 | - | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) |  | | - | autism | 16 (6.25%) |
1.08763 | Up | 20.8011 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Stessman HA, 2017 | 6342 | - | 74 | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development |
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.