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.

not_specified (25 variants)
not_provided (2 variants)

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. These statistics are base on transcript: NM_000003584.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			20 clinvar	4 clinvar		24
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	4	0

Loading clinvar variants...

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