DUSP7
dual specificity phosphatase 7, the group of MAP kinase phosphatases
Basic information
Region (hg38): 3:52048919-52056571
Links
Phenotypes
GenCC
Source:
No genCC data.
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 DUSP7 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 | 16 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 16 | 0 | 0 |
Variants in DUSP7
This is a list of pathogenic ClinVar variants found in the DUSP7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-52050819-G-A | not specified | Uncertain significance (Jan 31, 2022) | ||
| 3-52050888-G-A | not specified | Uncertain significance (Nov 21, 2022) | ||
| 3-52050997-A-G | not specified | Uncertain significance (Jun 13, 2024) | ||
| 3-52053952-T-C | not specified | Uncertain significance (Sep 28, 2022) | ||
| 3-52054164-G-T | not specified | Uncertain significance (Feb 22, 2025) | ||
| 3-52054192-C-T | not specified | Uncertain significance (Jan 08, 2024) | ||
| 3-52054261-G-A | not specified | Uncertain significance (Nov 26, 2024) | ||
| 3-52054330-T-C | not specified | Uncertain significance (Apr 07, 2023) | ||
| 3-52054353-G-A | not specified | Uncertain significance (Jun 28, 2024) | ||
| 3-52054353-G-C | not specified | Uncertain significance (Sep 02, 2024) | ||
| 3-52054365-T-C | not specified | Uncertain significance (Jul 30, 2024) | ||
| 3-52055853-G-C | not specified | Uncertain significance (Aug 01, 2024) | ||
| 3-52055927-G-A | not specified | Uncertain significance (Jun 18, 2024) | ||
| 3-52055929-C-A | not specified | Uncertain significance (Feb 20, 2025) | ||
| 3-52056242-C-G | not specified | Uncertain significance (Nov 18, 2023) | ||
| 3-52056335-C-G | not specified | Uncertain significance (May 10, 2023) | ||
| 3-52056341-G-T | not specified | Uncertain significance (Jan 03, 2022) | ||
| 3-52056342-G-A | not specified | Uncertain significance (Dec 21, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DUSP7 | protein_coding | protein_coding | ENST00000495880 | 3 | 7632 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.690 | 0.309 | 125730 | 0 | 4 | 125734 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.57 | 126 | 237 | 0.531 | 0.0000140 | 2685 |
| Missense in Polyphen | 31 | 88.795 | 0.34912 | 1018 | ||
| Synonymous | -0.826 | 125 | 114 | 1.10 | 0.00000803 | 883 |
| Loss of Function | 2.75 | 2 | 12.5 | 0.160 | 6.22e-7 | 140 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000177 | 0.0000176 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Dual specificity protein phosphatase (PubMed:9788880). Shows high activity towards MAPK1/ERK2 (PubMed:9788880). Also has lower activity towards MAPK14 and MAPK8 (PubMed:9788880). In arrested oocytes, plays a role in meiotic resumption (By similarity). Promotes nuclear envelope breakdown and activation of the CDK1/Cyclin-B complex in oocytes, probably by dephosphorylating and inactivating the conventional protein kinase C (cPKC) isozyme PRKCB (By similarity). May also inactivate PRKCA and/or PRKCG (By similarity). Also important in oocytes for normal chromosome alignment on the metaphase plate and progression to anaphase, where it might regulate activity of the spindle-assembly checkpoint (SAC) complex (By similarity). {ECO:0000250|UniProtKB:Q91Z46, ECO:0000269|PubMed:9788880}.;
- Pathway
- MAPK signaling pathway - Homo sapiens (human);MAPK Signaling Pathway;Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Signal Transduction;Signaling by Interleukins;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;Toll-Like Receptors Cascades;Innate Immune System;Immune System;Nuclear Events (kinase and transcription factor activation);RAF-independent MAPK1/3 activation;ERKs are inactivated;Signaling by NTRK1 (TRKA);Signaling by NTRKs;ERK/MAPK targets;MAPK targets/ Nuclear events mediated by MAP kinases;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;Signaling by Receptor Tyrosine Kinases;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade
(Consensus)
Recessive Scores
- pRec
- 0.140
Intolerance Scores
- loftool
- 0.186
- rvis_EVS
- -0.45
- rvis_percentile_EVS
- 24
Haploinsufficiency Scores
- pHI
- 0.632
- hipred
- N
- hipred_score
- 0.476
- ghis
- 0.586
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.801
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dusp7
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); reproductive system phenotype; pigmentation phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);
Gene ontology
- Biological process
- MAPK cascade;activation of MAPK activity;inactivation of MAPK activity;protein dephosphorylation;peptidyl-tyrosine dephosphorylation;negative regulation of MAP kinase activity
- Cellular component
- nucleoplasm;cytoplasm;cytosol
- Molecular function
- protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;MAP kinase tyrosine/serine/threonine phosphatase activity