HRK

harakiri, BCL2 interacting protein, the group of BCL2 homology region 3 (BH3) only

Basic information

Region (hg38): 12:116856144-116881441

Links

ENSG00000135116 ∙ NCBI:8739 ∙ OMIM:603447 ∙ HGNC:5185 ∙ Uniprot:O00198 ∙ 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 HRK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HRK 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	0

Variants in HRK

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

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

Position	Type	Phenotype	Significance	ClinVar
12-116881049-C-G		not specified	Uncertain significance (Jul 28, 2021)
12-116881099-G-A		not specified	Uncertain significance (Jan 26, 2022)
12-116881133-C-T		not specified	Uncertain significance (May 06, 2022)
12-116881139-G-C		not specified	Uncertain significance (Aug 07, 2024)
12-116881140-G-A			Likely benign (Apr 01, 2023)
12-116881162-A-G		not specified	Uncertain significance (Jun 01, 2023)
12-116881162-A-T		not specified	Uncertain significance (Jan 23, 2024)
12-116881163-T-C		not specified	Uncertain significance (Jul 25, 2024)
12-116881207-G-A		not specified	Uncertain significance (Aug 02, 2021)
12-116881220-C-T		not specified	Uncertain significance (Nov 27, 2023)
12-116881222-G-C		not specified	Uncertain significance (Mar 15, 2024)
12-116881291-A-G		not specified	Uncertain significance (Sep 17, 2021)
12-116881295-G-A		not specified	Uncertain significance (May 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HRK	protein_coding	protein_coding	ENST00000257572	1	25298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.360	0.492	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.704	2	7.39	0.271	3.63e-7	546
Missense in Polyphen		1	0.76638	1.3048		54
Synonymous	-0.379	5	4.03	1.24	2.05e-7	222
Loss of Function	0.784	0	0.716	0.00	3.16e-8	22

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes apoptosis. {ECO:0000269|PubMed:15031724, ECO:0000269|PubMed:9130713}.
• Pathway: Apoptosis - Homo sapiens (human);Apoptosis Modulation and Signaling;Apoptosis;Apoptotic Signaling Pathway;ATF-2 transcription factor network (Consensus)

Haploinsufficiency Scores

• pHI: 0.311
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.662

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hrk
• Phenotype: cellular phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: apoptotic process;positive regulation of protein homooligomerization;positive regulation of apoptotic process;positive regulation of release of cytochrome c from mitochondria
• Cellular component: mitochondrion;integral component of membrane
• Molecular function: protein binding