HUNK

hormonally up-regulated Neu-associated kinase

Basic information

Region (hg38): 21:31873020-32044633

Links

ENSG00000142149 ∙ NCBI:30811 ∙ OMIM:606532 ∙ HGNC:13326 ∙ Uniprot:P57058 ∙ 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 HUNK gene.

• not_specified (81 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HUNK gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014586.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			79	3		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	79	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HUNK	protein_coding	protein_coding	ENST00000270112	11	171319

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.996	0.00411	125725	0	21	125746	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.90	314	424	0.740	0.0000253	4653
Missense in Polyphen		102	166.21	0.61367		1716
Synonymous	1.40	155	179	0.867	0.0000115	1423
Loss of Function	4.52	3	29.5	0.102	0.00000167	333

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000618	0.0000618
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000968	0.0000967
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.436
• rvis_EVS: -0.15
• rvis_percentile_EVS: 42.25

Haploinsufficiency Scores

• pHI: 0.185
• hipred: Y
• hipred_score: 0.749
• ghis: 0.505

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.757

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hunk
• Phenotype: normal phenotype; neoplasm

Gene ontology

• Biological process: protein phosphorylation;signal transduction;multicellular organism development;intracellular signal transduction
• Cellular component: nucleus;cytoplasm
• Molecular function: protein serine/threonine kinase activity;protein binding;ATP binding