DUSP11

dual specificity phosphatase 11, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 2:73761782-73780173

Links

ENSG00000144048 ∙ NCBI:8446 ∙ OMIM:603092 ∙ HGNC:3066 ∙ Uniprot:O75319 ∙ 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 DUSP11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP11 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			9	4		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding			7		1	8
Total	0	0	16	4	1

Variants in DUSP11

This is a list of pathogenic ClinVar variants found in the DUSP11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-73762729-T-C		not specified	Uncertain significance (Dec 06, 2021)
2-73762743-C-G		not specified	Uncertain significance (Dec 13, 2023)
2-73762746-C-A		not specified	Uncertain significance (Nov 30, 2022)
2-73762788-T-C		not specified	Likely benign (Jun 21, 2022)
2-73766413-G-C			Benign (Mar 29, 2018)
2-73766511-T-A		not specified	Uncertain significance (Jan 31, 2024)
2-73766548-C-T		not specified	Likely benign (Mar 23, 2023)
2-73766575-G-A		not specified	Likely benign (Dec 07, 2021)
2-73766859-T-C		not specified	Uncertain significance (Nov 01, 2022)
2-73767185-C-T		not specified	Likely benign (Nov 06, 2023)
2-73769305-A-G		not specified	Uncertain significance (Aug 12, 2022)
2-73774930-G-A		not specified	Uncertain significance (Aug 27, 2024)
2-73775007-G-T		not specified	Uncertain significance (Jul 17, 2024)
2-73775051-C-G			Benign (Mar 29, 2018)
2-73778309-A-T		not specified	Uncertain significance (Jan 16, 2024)
2-73778345-T-C		not specified	Uncertain significance (Jun 29, 2023)
2-73779893-C-T		not specified	Uncertain significance (Sep 27, 2022)
2-73779896-C-G		not specified	Uncertain significance (Oct 08, 2024)
2-73779976-T-A		not specified	Uncertain significance (Jan 09, 2024)
2-73779986-G-A		not specified	Uncertain significance (May 20, 2024)
2-73780010-C-T		not specified	Uncertain significance (Jan 07, 2022)
2-73780030-G-A		not specified	Uncertain significance (Nov 22, 2021)
2-73780046-G-A		not specified	Uncertain significance (Dec 28, 2023)
2-73780051-G-A		not specified	Uncertain significance (Nov 07, 2024)
2-73780060-C-T		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP11	protein_coding	protein_coding	ENST00000272444	9	17974

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.49e-7	0.760	125718	0	9	125727	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.424	185	202	0.916	0.00000988	2461
Missense in Polyphen		36	55.607	0.64741		654
Synonymous	-1.58	88	71.1	1.24	0.00000332	700
Loss of Function	1.28	12	17.8	0.673	8.43e-7	224

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)	0.0000617	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000329	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possesses RNA 5'-triphosphatase and diphosphatase activities, but displays a poor protein-tyrosine phosphatase activity. In addition, has phosphatase activity with ATP, ADP and O-methylfluorescein phosphate (in vitro). Binds to RNA. May participate in nuclear mRNA metabolism. {ECO:0000269|PubMed:10347225, ECO:0000269|PubMed:24447265, ECO:0000269|PubMed:9685386}.

Recessive Scores

• pRec: 0.0968

Intolerance Scores

• loftool: 0.449
• rvis_EVS: 0.22
• rvis_percentile_EVS: 67.92

Haploinsufficiency Scores

• pHI: 0.180
• hipred: N
• hipred_score: 0.179
• ghis: 0.496

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.970

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp11
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); vision/eye phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: RNA processing;protein dephosphorylation;RNA metabolic process;peptidyl-tyrosine dephosphorylation;polynucleotide 5' dephosphorylation
• Cellular component: fibrillar center;nucleus;nuclear speck;intercellular bridge
• Molecular function: RNA binding;polynucleotide 5'-phosphatase activity;protein tyrosine phosphatase activity;protein tyrosine/serine/threonine phosphatase activity;phosphatase activity;nucleotide phosphatase activity, acting on free nucleotides