HBQ1

hemoglobin subunit theta 1, the group of Hemoglobin subunits

Basic information

Region (hg38): 16:180459-181179

Links

ENSG00000086506 ∙ NCBI:3049 ∙ OMIM:142240 ∙ HGNC:4833 ∙ Uniprot:P09105 ∙ 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 HBQ1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HBQ1 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						0
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in HBQ1

This is a list of pathogenic ClinVar variants found in the HBQ1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-180497-C-T		not specified	Uncertain significance (May 27, 2022)
16-180505-G-C		not specified	Uncertain significance (Aug 04, 2024)
16-180509-G-C		not specified	Uncertain significance (Jun 04, 2024)
16-180533-A-G		not specified	Likely benign (Jun 03, 2022)
16-180556-G-C		not specified	Uncertain significance (Dec 07, 2021)
16-180727-T-C		not specified	Uncertain significance (Dec 21, 2023)
16-180787-C-T		not specified	Uncertain significance (Jul 05, 2024)
16-180795-C-G		not specified	Uncertain significance (Aug 17, 2022)
16-180803-C-G		not specified	Uncertain significance (Mar 31, 2024)
16-180807-C-G		not specified	Uncertain significance (Dec 07, 2024)
16-180835-G-A		not specified	Uncertain significance (Jun 07, 2023)
16-180839-G-C		not specified	Uncertain significance (Aug 02, 2021)
16-180841-C-G		not specified	Uncertain significance (Sep 21, 2023)
16-180850-G-C		not specified	Uncertain significance (Mar 01, 2025)
16-181059-A-C		not specified	Uncertain significance (Aug 15, 2023)
16-181061-A-G		not specified	Uncertain significance (Oct 10, 2023)
16-181089-T-C		not specified	Uncertain significance (May 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HBQ1	protein_coding	protein_coding	ENST00000199708	3	729

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000829	0.348	110016	0	12	110028	0.0000545

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.590	60	74.3	0.807	0.00000328	866
Missense in Polyphen		19	24.954	0.7614		328
Synonymous	0.0344	41	41.3	0.993	0.00000194	319
Loss of Function	-0.512	4	3.04	1.32	1.28e-7	42

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	0.000395	0.000341
European (Non-Finnish)	0.0000651	0.0000623
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.207

Haploinsufficiency Scores

• pHI: 0.0644
• hipred: N
• hipred_score: 0.238

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0820

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hbq1b

Gene ontology

• Biological process: oxygen transport;hydrogen peroxide catabolic process;protein heterooligomerization;cellular oxidant detoxification
• Cellular component: hemoglobin complex;haptoglobin-hemoglobin complex
• Molecular function: peroxidase activity;oxygen carrier activity;iron ion binding;protein binding;oxygen binding;heme binding;haptoglobin binding;organic acid binding