DUSP10
Basic information
Region (hg38): 1:221701424-221742089
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 DUSP10 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 | 24 | 25 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 24 | 1 | 0 |
Variants in DUSP10
This is a list of pathogenic ClinVar variants found in the DUSP10 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-221702417-C-A | not specified | Uncertain significance (Aug 17, 2022) | ||
1-221702507-T-A | not specified | Uncertain significance (Aug 22, 2023) | ||
1-221702578-C-T | not specified | Uncertain significance (Jan 23, 2023) | ||
1-221702606-C-T | not specified | Uncertain significance (Dec 12, 2023) | ||
1-221702677-T-G | not specified | Uncertain significance (Oct 06, 2022) | ||
1-221706188-C-T | not specified | Uncertain significance (Jun 03, 2022) | ||
1-221706208-T-C | not specified | Uncertain significance (Feb 27, 2024) | ||
1-221706244-C-T | not specified | Uncertain significance (Sep 14, 2022) | ||
1-221706350-G-A | not specified | Likely benign (Mar 07, 2024) | ||
1-221706382-C-A | not specified | Uncertain significance (Jul 26, 2022) | ||
1-221706383-C-T | not specified | Uncertain significance (Aug 17, 2021) | ||
1-221739137-C-T | not specified | Uncertain significance (Feb 17, 2023) | ||
1-221739156-C-T | not specified | Uncertain significance (May 27, 2022) | ||
1-221739189-T-C | not specified | Uncertain significance (May 26, 2024) | ||
1-221739194-T-C | not specified | Uncertain significance (Aug 18, 2023) | ||
1-221739242-G-A | not specified | Uncertain significance (May 24, 2023) | ||
1-221739362-C-A | not specified | Uncertain significance (Jan 09, 2024) | ||
1-221739374-G-T | not specified | Uncertain significance (Nov 15, 2021) | ||
1-221739396-T-C | not specified | Uncertain significance (Jan 16, 2024) | ||
1-221739407-G-A | not specified | Uncertain significance (Dec 02, 2021) | ||
1-221739417-T-C | not specified | Uncertain significance (Dec 08, 2021) | ||
1-221739426-C-T | not specified | Uncertain significance (Feb 11, 2022) | ||
1-221739450-C-A | not specified | Uncertain significance (Jun 06, 2023) | ||
1-221739536-G-A | not specified | Uncertain significance (Nov 22, 2022) | ||
1-221739623-C-G | not specified | Uncertain significance (May 08, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DUSP10 | protein_coding | protein_coding | ENST00000366899 | 3 | 40753 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.834 | 0.166 | 125739 | 0 | 9 | 125748 | 0.0000358 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.19 | 233 | 290 | 0.803 | 0.0000169 | 3178 |
Missense in Polyphen | 58 | 108.52 | 0.53445 | 1165 | ||
Synonymous | -0.479 | 131 | 124 | 1.05 | 0.00000814 | 987 |
Loss of Function | 3.07 | 2 | 14.7 | 0.136 | 8.91e-7 | 165 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000177 | 0.000177 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000352 | 0.0000352 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Protein phosphatase involved in the inactivation of MAP kinases. Has a specificity for the MAPK11/MAPK12/MAPK13/MAPK14 subfamily. It preferably dephosphorylates p38. {ECO:0000269|PubMed:10391943, ECO:0000269|PubMed:10597297, ECO:0000269|PubMed:22375048}.;
- Pathway
- MAPK signaling pathway - Homo sapiens (human);EGF-Ncore;Vitamin D Receptor Pathway;MAPK Signaling Pathway;Signal Transduction;ATF-2 transcription factor network;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;Regulation of p38-alpha and p38-beta
(Consensus)
Recessive Scores
- pRec
- 0.152
Intolerance Scores
- loftool
- 0.226
- rvis_EVS
- -0.49
- rvis_percentile_EVS
- 22.51
Haploinsufficiency Scores
- pHI
- 0.716
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.570
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.984
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dusp10
- Phenotype
- hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- inactivation of MAPK activity;regulation of adaptive immune response;protein dephosphorylation;negative regulation of epithelial cell migration;dephosphorylation;negative regulation of cell migration;response to lipopolysaccharide;peptidyl-threonine dephosphorylation;negative regulation of JUN kinase activity;negative regulation of protein kinase activity by regulation of protein phosphorylation;positive regulation of regulatory T cell differentiation;negative regulation of JNK cascade;oligodendrocyte differentiation;negative regulation of oligodendrocyte differentiation;negative regulation of epithelial cell proliferation;negative regulation of respiratory burst involved in inflammatory response;negative regulation of ERK1 and ERK2 cascade;regulation of brown fat cell differentiation;negative regulation of p38MAPK cascade;negative regulation of epithelium regeneration;peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity
- Cellular component
- nucleus;nucleoplasm;cytoplasm;Golgi apparatus;cytosol;nuclear speck
- Molecular function
- protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;protein tyrosine/threonine phosphatase activity;JUN kinase binding;phosphatase activity;MAP kinase tyrosine/serine/threonine phosphatase activity;MAP kinase phosphatase activity;mitogen-activated protein kinase p38 binding