DUSP9
Basic information
Region (hg38): X:153642491-153651326
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 DUSP9 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 | 4 | |||||
missense | 20 | 21 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 20 | 2 | 3 |
Variants in DUSP9
This is a list of pathogenic ClinVar variants found in the DUSP9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-153648006-C-A | not specified | Uncertain significance (May 14, 2024) | ||
X-153648006-C-T | not specified | Uncertain significance (Oct 02, 2023) | ||
X-153648119-A-G | not specified | Uncertain significance (Apr 04, 2024) | ||
X-153648209-G-T | not specified | Uncertain significance (Mar 02, 2023) | ||
X-153648221-C-T | not specified | Uncertain significance (Nov 22, 2023) | ||
X-153648240-A-C | not specified | Uncertain significance (Feb 09, 2022) | ||
X-153648313-C-A | Likely benign (Jul 01, 2022) | |||
X-153649266-C-G | not specified | Uncertain significance (Oct 17, 2023) | ||
X-153649292-G-A | not specified | Uncertain significance (Mar 13, 2023) | ||
X-153649297-G-A | not specified | Uncertain significance (Jul 26, 2022) | ||
X-153649310-C-T | Benign (Apr 13, 2018) | |||
X-153649313-C-T | Uncertain significance (Feb 15, 2019) | |||
X-153649332-C-T | Benign (Jun 14, 2018) | |||
X-153649333-G-C | not specified | Uncertain significance (Dec 12, 2023) | ||
X-153649380-G-A | Benign (Apr 13, 2018) | |||
X-153649387-G-A | not specified | Uncertain significance (Feb 17, 2023) | ||
X-153649399-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
X-153649424-C-T | not specified | Uncertain significance (Dec 30, 2023) | ||
X-153649456-C-T | not specified | Uncertain significance (Jun 16, 2024) | ||
X-153649457-G-A | not specified | Uncertain significance (Jun 11, 2024) | ||
X-153649537-A-G | not specified | Uncertain significance (Jun 07, 2024) | ||
X-153649564-G-A | not specified | Uncertain significance (Dec 20, 2023) | ||
X-153650002-C-G | not specified | Uncertain significance (Jul 05, 2023) | ||
X-153650174-C-T | not specified | Uncertain significance (Feb 15, 2023) | ||
X-153650175-G-A | not specified | Uncertain significance (Apr 27, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DUSP9 | protein_coding | protein_coding | ENST00000342782 | 3 | 8836 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.820 | 0.176 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.32 | 99 | 144 | 0.689 | 0.0000124 | 2417 |
Missense in Polyphen | 26 | 61.357 | 0.42375 | 1231 | ||
Synonymous | 0.0168 | 69 | 69.2 | 0.997 | 0.00000624 | 859 |
Loss of Function | 2.20 | 0 | 5.66 | 0.00 | 3.80e-7 | 117 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inactivates MAP kinases. Has a specificity for the ERK family.;
- Pathway
- Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);EGF-Ncore;MAPK Signaling Pathway;Signal Transduction;regulation of map kinase pathways through dual specificity phosphatases;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades
(Consensus)
Recessive Scores
- pRec
- 0.144
Haploinsufficiency Scores
- pHI
- 0.585
- hipred
- Y
- hipred_score
- 0.813
- ghis
- 0.413
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.611
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dusp9
- Phenotype
- embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- MAPK cascade;activation of MAPK activity;inactivation of MAPK activity;protein dephosphorylation;JNK cascade;peptidyl-tyrosine dephosphorylation
- Cellular component
- nucleus;cytoplasm;cytosol
- Molecular function
- phosphoprotein phosphatase activity;protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;MAP kinase tyrosine/serine/threonine phosphatase activity