DUSP22
Basic information
Region (hg38): 6:291630-351355
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 DUSP22 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 | 10 | |||||
missense | 9 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 2 | 1 | 3 | |||
non coding | 3 | |||||
Total | 0 | 0 | 5 | 15 | 2 |
Variants in DUSP22
This is a list of pathogenic ClinVar variants found in the DUSP22 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-292535-C-T | DUSP22-related disorder | Likely benign (Mar 08, 2022) | ||
6-292558-A-C | not specified | Uncertain significance (Jun 10, 2022) | ||
6-304650-G-A | not specified | Uncertain significance (Jun 22, 2023) | ||
6-311873-C-CT | DUSP22-related disorder | Likely benign (Sep 20, 2019) | ||
6-311893-G-A | DUSP22-related disorder | Likely benign (Mar 06, 2023) | ||
6-311907-A-G | not specified | Uncertain significance (Aug 26, 2024) | ||
6-311937-A-G | not specified | Uncertain significance (May 13, 2024) | ||
6-335128-G-A | DUSP22-related disorder | Likely benign (Mar 17, 2023) | ||
6-335143-G-A | DUSP22-related disorder | Likely benign (Sep 30, 2021) | ||
6-345850-C-T | DUSP22-related disorder | Likely benign (Jan 20, 2023) | ||
6-345890-C-T | DUSP22-related disorder | Likely benign (Jul 11, 2019) | ||
6-345925-A-G | not specified | Uncertain significance (Feb 22, 2023) | ||
6-348096-C-T | Benign (Mar 13, 2018) | |||
6-348124-C-T | DUSP22-related disorder | Likely benign (Sep 25, 2019) | ||
6-348150-T-C | not specified | Uncertain significance (Nov 19, 2024) | ||
6-348154-C-T | DUSP22-related disorder | Likely benign (Oct 10, 2019) | ||
6-348155-G-A | DUSP22-related disorder | Likely benign (Jun 13, 2022) | ||
6-348177-A-G | not specified | Uncertain significance (Nov 08, 2024) | ||
6-348223-C-T | Likely benign (Sep 01, 2024) | |||
6-348266-G-A | DUSP22-related disorder | Likely benign (Dec 20, 2023) | ||
6-348803-G-A | not specified | Uncertain significance (May 15, 2024) | ||
6-348810-G-T | DUSP22-related disorder | Likely benign (Sep 28, 2021) | ||
6-348906-G-A | DUSP22-related disorder | Benign (Feb 03, 2021) | ||
6-348917-C-T | DUSP22-related disorder | Likely benign (Aug 19, 2020) | ||
6-348927-C-T | DUSP22-related disorder | Likely benign (Aug 10, 2019) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DUSP22 | protein_coding | protein_coding | ENST00000344450 | 8 | 59726 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00934 | 0.944 | 125717 | 0 | 31 | 125748 | 0.000123 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.451 | 84 | 96.5 | 0.871 | 0.00000538 | 1134 |
Missense in Polyphen | 35 | 37.374 | 0.93649 | 453 | ||
Synonymous | -0.120 | 37 | 36.1 | 1.03 | 0.00000227 | 299 |
Loss of Function | 1.73 | 5 | 11.3 | 0.444 | 4.76e-7 | 139 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000152 | 0.000152 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000149 | 0.000149 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.000229 | 0.000229 |
Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase/c-Jun N- terminal kinase (SAPK/JNK) (By similarity). {ECO:0000250, ECO:0000269|PubMed:11717427}.;
- Pathway
- EGF-Ncore
(Consensus)
Recessive Scores
- pRec
- 0.158
Intolerance Scores
- loftool
- 0.277
- rvis_EVS
- 0.28
- rvis_percentile_EVS
- 71.41
Haploinsufficiency Scores
- pHI
- 0.197
- hipred
- Y
- hipred_score
- 0.692
- ghis
- 0.505
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dusp22
- Phenotype
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;inactivation of MAPK activity;negative regulation of T cell mediated immunity;protein dephosphorylation;apoptotic process;transforming growth factor beta receptor signaling pathway;multicellular organism development;cell population proliferation;negative regulation of cell migration;peptidyl-tyrosine dephosphorylation;regulation of cell population proliferation;positive regulation of JNK cascade;negative regulation of T cell receptor signaling pathway;negative regulation of T cell activation;negative regulation of focal adhesion assembly;cellular response to epidermal growth factor stimulus;negative regulation of non-membrane spanning protein tyrosine kinase activity
- Cellular component
- nucleus;cytoplasm;cytosol;plasma membrane;filamentous actin;leading edge of lamellipodium
- Molecular function
- protein tyrosine phosphatase activity;non-membrane spanning protein tyrosine phosphatase activity;protein tyrosine/serine/threonine phosphatase activity;protein tyrosine kinase binding