TCF25
Basic information
Region (hg38): 16:89873569-89913627
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TCF25 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 1 | |||||
missense | 50 | 58 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 1 | |||||
Total | 0 | 0 | 50 | 9 | 1 |
Variants in TCF25
This is a list of pathogenic ClinVar variants found in the TCF25 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-89873697-G-C | not specified | Uncertain significance (Feb 14, 2023) | ||
16-89873701-G-A | not specified | Uncertain significance (Jan 10, 2022) | ||
16-89873708-G-A | not specified | Uncertain significance (Dec 15, 2023) | ||
16-89873789-G-A | not specified | Uncertain significance (Dec 28, 2022) | ||
16-89873812-G-A | not specified | Likely benign (Mar 05, 2024) | ||
16-89873834-T-G | not specified | Uncertain significance (Jan 23, 2023) | ||
16-89873853-C-G | not specified | Uncertain significance (Jan 17, 2023) | ||
16-89883390-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
16-89883406-G-C | not specified | Uncertain significance (Jun 10, 2022) | ||
16-89883463-C-G | not specified | Uncertain significance (Dec 02, 2022) | ||
16-89884588-G-T | not specified | Uncertain significance (Mar 13, 2023) | ||
16-89884652-C-T | not specified | Uncertain significance (May 29, 2024) | ||
16-89884654-T-C | not specified | Uncertain significance (Oct 05, 2022) | ||
16-89884655-C-T | not specified | Uncertain significance (Dec 21, 2023) | ||
16-89885854-G-A | not specified | Uncertain significance (Nov 27, 2023) | ||
16-89885886-G-T | not specified | Uncertain significance (Jun 11, 2021) | ||
16-89885891-A-G | not specified | Uncertain significance (Jul 12, 2023) | ||
16-89885896-A-G | not specified | Uncertain significance (Nov 10, 2022) | ||
16-89885912-G-A | not specified | Likely benign (Dec 02, 2021) | ||
16-89885947-G-C | not specified | Uncertain significance (Jun 30, 2022) | ||
16-89892218-C-G | not specified | Uncertain significance (Aug 17, 2022) | ||
16-89892249-G-A | not specified | Uncertain significance (Aug 19, 2021) | ||
16-89892272-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
16-89895129-A-C | not specified | Uncertain significance (Apr 20, 2024) | ||
16-89895996-C-T | not specified | Uncertain significance (Jan 05, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TCF25 | protein_coding | protein_coding | ENST00000263346 | 18 | 37793 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.416 | 0.584 | 125730 | 0 | 16 | 125746 | 0.0000636 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.0382 | 424 | 422 | 1.01 | 0.0000267 | 4382 |
Missense in Polyphen | 86 | 101.52 | 0.84715 | 1092 | ||
Synonymous | -2.16 | 216 | 179 | 1.21 | 0.0000124 | 1320 |
Loss of Function | 4.32 | 8 | 35.9 | 0.223 | 0.00000168 | 409 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000121 | 0.000119 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000890 | 0.0000879 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May play a role in cell death control. Acts as a transcriptional repressor. Has been shown to repress transcription of SRF in vitro and so may play a role in heart development. {ECO:0000269|PubMed:16574069}.;
Intolerance Scores
- loftool
- 0.150
- rvis_EVS
- -1.08
- rvis_percentile_EVS
- 7.2
Haploinsufficiency Scores
- pHI
- 0.204
- hipred
- N
- hipred_score
- 0.492
- ghis
- 0.559
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.760
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tcf25
- Phenotype
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;heart development
- Cellular component
- nucleus
- Molecular function
- DNA binding;DNA-binding transcription factor activity;protein binding