UHMK1

U2AF homology motif kinase 1, the group of RNA binding motif containing

Basic information

Region (hg38): 1:162497251-162529631

Links

ENSG00000152332 ∙ NCBI:127933 ∙ OMIM:608849 ∙ HGNC:19683 ∙ Uniprot:Q8TAS1 ∙ 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 UHMK1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UHMK1 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				1		1
missense		1	13			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	13	1	0

Variants in UHMK1

This is a list of pathogenic ClinVar variants found in the UHMK1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-162498014-G-C		not specified	Uncertain significance (May 10, 2022)
1-162498157-C-T		not specified	Uncertain significance (Nov 29, 2023)
1-162498191-C-T		not specified	Uncertain significance (Sep 17, 2021)
1-162498223-A-G		not specified	Uncertain significance (Jul 21, 2021)
1-162498250-C-G		not specified	Uncertain significance (Oct 12, 2022)
1-162500071-G-C		not specified	Uncertain significance (Aug 23, 2021)
1-162500161-C-G		not specified	Uncertain significance (Feb 12, 2024)
1-162500945-G-C			Likely benign (Mar 01, 2022)
1-162501042-A-G		not specified	Uncertain significance (Mar 06, 2023)
1-162501088-G-T		not specified	Uncertain significance (Dec 22, 2023)
1-162503829-C-A		not specified	Uncertain significance (Dec 11, 2023)
1-162512511-A-G		not specified	Uncertain significance (Dec 07, 2021)
1-162522420-C-T		not specified	Uncertain significance (Aug 16, 2022)
1-162522489-T-C		not specified	Uncertain significance (Oct 17, 2023)
1-162522504-C-T		Cerebral visual impairment and intellectual disability	Likely pathogenic (Sep 09, 2015)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UHMK1	protein_coding	protein_coding	ENST00000489294	8	32379

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.834	0.166	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.844	196	232	0.844	0.0000111	2728
Missense in Polyphen		43	72.635	0.592		915
Synonymous	-2.26	118	90.6	1.30	0.00000453	829
Loss of Function	3.41	3	19.1	0.157	8.91e-7	237

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.0000536	0.0000527
Middle Eastern	0.000163	0.000163
South Asian	0.0000653	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.511

Intolerance Scores

• loftool: 0.597
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.292
• hipred: Y
• hipred_score: 0.641
• ghis: 0.648

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.732

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uhmk1
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cell cycle arrest;peptidyl-serine phosphorylation;neuron projection development;positive regulation of translational initiation;protein autophosphorylation;regulation of protein export from nucleus
• Cellular component: nucleus;nucleoplasm;cytoplasm;Golgi apparatus;axon;dendrite cytoplasm;neuronal ribonucleoprotein granule
• Molecular function: RNA binding;protein serine/threonine kinase activity;protein binding;ATP binding;transferase activity;ribonucleoprotein complex binding