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.

not_specified (38 variants)
not_provided (1 variants)
Cerebral_visual_impairment_and_intellectual_disability (1 variants)

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. These statistics are base on transcript: NM_000175866.5. 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				1 clinvar		1
missense		1 clinvar	38 clinvar			39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	38	1	0

Highest pathogenic variant AF is 0.0000020521773

Loading clinvar variants...

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