DUSP21

dual specificity phosphatase 21, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): X:44844020-44844888

Links

ENSG00000189037 ∙ NCBI:63904 ∙ OMIM:300678 ∙ HGNC:20476 ∙ Uniprot:Q9H596 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DUSP21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP21 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			4	2		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	2	0

Variants in DUSP21

This is a list of pathogenic ClinVar variants found in the DUSP21 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-44844169-G-A		not specified	Uncertain significance (Apr 23, 2024)
X-44844206-T-C		not specified	Uncertain significance (Apr 19, 2024)
X-44844256-C-T		not specified	Uncertain significance (Apr 26, 2023)
X-44844443-T-C		not specified	Uncertain significance (Nov 08, 2022)
X-44844451-A-G		not specified	Likely benign (Apr 13, 2022)
X-44844653-G-T		not specified	Uncertain significance (Sep 27, 2021)
X-44844682-C-G		not specified	Likely benign (May 18, 2023)
X-44844701-T-C		not specified	Uncertain significance (Jan 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP21	protein_coding	protein_coding	ENST00000339042	1	882

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000324	0.216	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.520	84	98.5	0.853	0.00000934	1253
Missense in Polyphen		21	28.299	0.74208		358
Synonymous	1.75	29	43.7	0.663	0.00000447	387
Loss of Function	-1.52	4	1.80	2.22	1.14e-7	31

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: dbNSFP

• Function: FUNCTION: Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine.

Recessive Scores

• pRec: 0.0875

Intolerance Scores

• loftool: 0.614
• rvis_EVS: 0.22
• rvis_percentile_EVS: 67.92

Haploinsufficiency Scores

• pHI: 0.0457
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dusp21

Gene ontology

• Biological process: inactivation of MAPK activity;peptidyl-tyrosine dephosphorylation
• Cellular component: nucleus;cytoplasm;mitochondrial matrix;extrinsic component of mitochondrial inner membrane
• Molecular function: protein tyrosine phosphatase activity;protein binding;MAP kinase tyrosine/serine/threonine phosphatase activity