AHSP

alpha hemoglobin stabilizing protein

Basic information

Region (hg38): 16:31527900-31528803

Previous symbols: [ "ERAF" ]

Links

ENSG00000169877 ∙ NCBI:51327 ∙ OMIM:605821 ∙ HGNC:18075 ∙ Uniprot:Q9NZD4 ∙ 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 AHSP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AHSP 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			9		1	10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	1

Variants in AHSP

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

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

Position	Type	Phenotype	Significance	ClinVar
16-31528171-T-C		not specified	Uncertain significance (Sep 10, 2024)
16-31528200-C-T			Likely benign (Feb 01, 2023)
16-31528211-G-C		not specified	Uncertain significance (Aug 08, 2024)
16-31528470-C-T		not specified	Uncertain significance (Oct 01, 2024)
16-31528476-G-C		not specified	Uncertain significance (Mar 29, 2023)
16-31528510-A-G		not specified	Uncertain significance (Feb 20, 2025)
16-31528518-A-G		not specified	Uncertain significance (Jan 19, 2024)
16-31528520-C-T		AHSP-related disorder	Likely benign (Apr 09, 2019)
16-31528573-A-G		not specified	Uncertain significance (Dec 07, 2021)
16-31528606-A-T		AHSP-related disorder	Uncertain significance (Nov 06, 2023)
16-31528613-G-T		AHSP-related disorder	Benign (Oct 23, 2019)
16-31528635-T-C		not specified	Uncertain significance (Oct 03, 2024)
16-31528642-A-T		not specified	Uncertain significance (Mar 21, 2023)
16-31528680-C-A			Benign (Jun 21, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AHSP	protein_coding	protein_coding	ENST00000302312	2	940

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000329	0.218	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.248	59	53.9	1.10	0.00000290	668
Missense in Polyphen		14	12.991	1.0777		188
Synonymous	-0.131	24	23.2	1.03	0.00000128	197
Loss of Function	-1.50	4	1.82	2.20	7.71e-8	23

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000703	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia. {ECO:0000269|PubMed:12066189}.
• Pathway: hemoglobins chaperone (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.700
• rvis_EVS: 0.41
• rvis_percentile_EVS: 76.67

Haploinsufficiency Scores

• pHI: 0.309
• hipred: N
• hipred_score: 0.221
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ahsp
• Phenotype: immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: protein folding;hemoglobin metabolic process;hemopoiesis;erythrocyte differentiation;protein stabilization
• Cellular component: cytoplasm;hemoglobin complex
• Molecular function: protein binding;hemoglobin binding;unfolded protein binding