HYPK

huntingtin interacting protein K

Basic information

Region (hg38): 15:43796142-43804574

Previous symbols: [ "C15orf63" ]

Links

ENSG00000242028 ∙ NCBI:25764 ∙ OMIM:612784 ∙ HGNC:18418 ∙ Uniprot:Q9NX55 ∙ 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 HYPK gene.

• not_specified (14 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HYPK gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016400.4. 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	3	4
missense			12			12
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	12	1	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HYPK	protein_coding	protein_coding	ENST00000406925	4	6902

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0366	0.843	125734	0	13	125747	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.742	61	79.6	0.766	0.00000409	835
Missense in Polyphen		8	17.325	0.46175		213
Synonymous	-2.56	46	28.6	1.61	0.00000144	249
Loss of Function	1.24	3	6.39	0.469	3.35e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has a chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT. Protects against HTT polyQ-mediated apoptosis in Neuro2a neuronal cells. Required for optimal NAA10- NAA15 complex-mediated N-terminal acetylation. {ECO:0000269|PubMed:17947297, ECO:0000269|PubMed:20154145}.

Intolerance Scores

• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.12

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.588

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S

Mouse Genome Informatics

• Gene name: Hypk

Gene ontology

• Biological process: negative regulation of apoptotic process;protein stabilization
• Cellular component: nucleus;nucleoplasm;cytoplasm;microtubule cytoskeleton;protein-containing complex
• Molecular function: protein binding;protein N-terminus binding