DUSP26
Basic information
Region (hg38): 8:33591330-33600023
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 DUSP26 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 | 0 | |||||
missense | 11 | 11 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 11 | 0 | 0 |
Variants in DUSP26
This is a list of pathogenic ClinVar variants found in the DUSP26 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-33592123-C-T | not specified | Uncertain significance (Jan 10, 2025) | ||
8-33593547-A-C | not specified | Uncertain significance (May 09, 2022) | ||
8-33593554-G-A | not specified | Uncertain significance (Apr 12, 2023) | ||
8-33593566-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
8-33593664-G-A | not specified | Uncertain significance (Aug 19, 2024) | ||
8-33593670-C-T | not specified | Uncertain significance (Oct 09, 2024) | ||
8-33593677-G-A | not specified | Uncertain significance (Mar 11, 2025) | ||
8-33593730-C-T | not specified | Likely benign (Jan 27, 2025) | ||
8-33593743-T-C | not specified | Uncertain significance (Mar 15, 2024) | ||
8-33597340-C-T | not specified | Uncertain significance (Apr 24, 2024) | ||
8-33597451-G-A | not specified | Uncertain significance (Oct 06, 2024) | ||
8-33597460-C-T | not specified | Uncertain significance (Jul 16, 2024) | ||
8-33597461-G-A | not specified | Uncertain significance (Nov 29, 2023) | ||
8-33597464-A-C | not specified | Uncertain significance (Dec 30, 2024) | ||
8-33597491-C-A | not specified | Uncertain significance (Jul 02, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DUSP26 | protein_coding | protein_coding | ENST00000256261 | 3 | 8769 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000230 | 0.767 | 125720 | 0 | 26 | 125746 | 0.000103 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.21 | 107 | 149 | 0.720 | 0.0000102 | 1356 |
Missense in Polyphen | 40 | 64.018 | 0.62483 | 622 | ||
Synonymous | 0.838 | 50 | 58.1 | 0.860 | 0.00000357 | 459 |
Loss of Function | 1.05 | 7 | 10.7 | 0.653 | 8.42e-7 | 79 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.000648 | 0.000647 |
European (Non-Finnish) | 0.0000715 | 0.0000703 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.0000983 | 0.0000980 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity. Inhibits MAP kinase p38 by dephosphorylating it and inhibits p38-mediated apoptosis in anaplastic thyroid cancer cells. Can also induce activation of MAP kinase p38 and c-Jun N-terminal kinase (JNK). {ECO:0000269|PubMed:15796912, ECO:0000269|PubMed:16581800, ECO:0000269|PubMed:16924234, ECO:0000269|PubMed:17001450}.;
Recessive Scores
- pRec
- 0.122
Intolerance Scores
- loftool
- 0.443
- rvis_EVS
- -0.29
- rvis_percentile_EVS
- 32.94
Haploinsufficiency Scores
- pHI
- 0.202
- hipred
- N
- hipred_score
- 0.439
- ghis
- 0.580
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.838
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dusp26
- Phenotype
- homeostasis/metabolism phenotype; growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- dusp26
- Affected structure
- cranial motor neuron
- Phenotype tag
- abnormal
- Phenotype quality
- decreased length
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;protein dephosphorylation;peptidyl-tyrosine dephosphorylation;negative regulation of protein kinase activity by regulation of protein phosphorylation;positive regulation of cell adhesion;negative regulation of ERK1 and ERK2 cascade;positive regulation of peptidyl-serine dephosphorylation
- Cellular component
- nucleus;cytoplasm;Golgi apparatus;extracellular exosome
- Molecular function
- RNA polymerase II activating transcription factor binding;p53 binding;phosphoserine phosphatase activity;phosphoprotein phosphatase activity;protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity