TCF7L2 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TCF7L2 (HGNC:11641) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- transcription factor 7 like 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TCF4
- Alias symbols
- TCF-4
- %HI
- 0.77(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.27(Read more about gnomAD LOEUF score)
- Cytoband
- 10q25.2-q25.3
- Genomic Coordinates
-
GRCh37/hg19: chr10:114710006-114927437 NCBI Ensembl UCSC GRCh38/hg38: chr10:112950247-113167678 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001367943.1 ENST00000355995.9 (Read more about MANE Select)
- Function
- Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as a repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30611
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/27/2019
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Complex Neurodevelopmental Disorder Monarch
HI Evidence:
-
PUBMED:
25363768
Iossifov I et al. sequenced exomes from 2,508 children with autistic spectrum disorder (ASD), 1,911 unaffected siblings and the parents of each family. Exome data were analyzed by 3 different institutes. They measured de novo rates in quad families (one affected and one unaffected child) over genomic positions at which all family members had ≥40× sequence coverage. There were 2 de novo gene-disrupting variants in TCF7L2 were detected in 2 different probands (ASD, non-verbal IQ <90) from different families, both of these two variants were on splice-site.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)