ACRV1

acrosomal vesicle protein 1

Basic information

Region (hg38): 11:125671521-125680874

Links

ENSG00000134940 ∙ NCBI:56 ∙ OMIM:102525 ∙ HGNC:127 ∙ Uniprot:P26436 ∙ 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 ACRV1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACRV1 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in ACRV1

This is a list of pathogenic ClinVar variants found in the ACRV1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-125672597-A-G		not specified	Uncertain significance (Mar 03, 2023)
11-125676364-A-G		not specified	Uncertain significance (Sep 25, 2023)
11-125676409-G-A		Malignant tumor of prostate	Uncertain significance (-)
11-125676421-C-T		not specified	Uncertain significance (Jun 06, 2023)
11-125677980-G-A		not specified	Uncertain significance (Nov 01, 2022)
11-125678121-T-G		not specified	Uncertain significance (Jan 04, 2022)
11-125678174-G-C		not specified	Uncertain significance (Jan 31, 2024)
11-125678274-G-T		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACRV1	protein_coding	protein_coding	ENST00000533904	4	9602

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000121	0.374	125712	0	36	125748	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.892	110	140	0.788	0.00000688	1716
Missense in Polyphen		32	45.479	0.70363		590
Synonymous	-0.956	60	51.3	1.17	0.00000295	512
Loss of Function	0.497	10	11.8	0.844	5.09e-7	158

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000358	0.000358
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000211	0.000211
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.150

Intolerance Scores

• loftool: 0.979
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.09

Haploinsufficiency Scores

• pHI: 0.0883
• hipred: N
• hipred_score: 0.123
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0199

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acrv1

Gene ontology

• Biological process: multicellular organism development
• Cellular component: acrosomal vesicle