ACR

acrosin

Basic information

Region (hg38): 22:50738195-50745339

Links

ENSG00000100312 ∙ NCBI:49 ∙ OMIM:102480 ∙ HGNC:126 ∙ Uniprot:P10323 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 87	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	37004249

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACR gene.

• Inborn genetic diseases (13 variants)
• not provided (4 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACR 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			12	1	2	15
nonsense						0
start loss					1	1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	12	2	3

Variants in ACR

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

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

Position	Type	Phenotype	Significance	ClinVar
22-50738236-A-G			Benign (Jul 12, 2018)
22-50738301-C-T			Likely benign (Apr 10, 2018)
22-50738306-C-T			Benign (Oct 17, 2017)
22-50739323-G-A		not specified	Uncertain significance (Aug 19, 2023)
22-50739335-G-T		not specified	Uncertain significance (Mar 24, 2023)
22-50739360-G-A		Spermatogenic failure 87	Pathogenic (Aug 31, 2023)
22-50739384-C-T		not specified	Uncertain significance (Sep 15, 2021)
22-50739722-G-A		not specified	Uncertain significance (Dec 13, 2023)
22-50744057-A-G		not specified	Benign (Dec 31, 2019)
22-50744094-G-C		not specified	Uncertain significance (May 06, 2022)
22-50744171-G-A		not specified	Uncertain significance (Dec 15, 2023)
22-50744743-C-T		not specified	Uncertain significance (May 04, 2022)
22-50744758-G-A		not specified	Uncertain significance (Jun 07, 2023)
22-50744824-C-T		not specified	Uncertain significance (Dec 06, 2022)
22-50744825-G-A		not specified	Likely benign (Jul 31, 2023)
22-50744827-A-G		not specified	Benign (Mar 28, 2016)
22-50744855-C-T		not specified	Uncertain significance (Dec 11, 2023)
22-50744867-C-T		not specified	Uncertain significance (Oct 20, 2023)
22-50744873-C-T		not specified	Uncertain significance (Dec 27, 2023)
22-50744929-C-T		not specified	Uncertain significance (Feb 06, 2024)
22-50744936-C-G		not specified	Uncertain significance (Nov 01, 2022)
22-50744939-G-A		not specified	Uncertain significance (Mar 07, 2024)
22-50744954-G-A		not specified	Uncertain significance (Mar 27, 2023)
22-50744956-C-A		not specified	Uncertain significance (Aug 16, 2022)
22-50744984-C-T		not specified	Uncertain significance (Jul 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACR	protein_coding	protein_coding	ENST00000216139	5	7139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0122	0.955	125734	0	13	125747	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.447	215	234	0.918	0.0000145	2661
Missense in Polyphen		61	93.306	0.65376		971
Synonymous	-2.34	129	99.3	1.30	0.00000695	907
Loss of Function	1.86	5	11.9	0.419	6.08e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000618	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome.
• Pathway: Fertilization;Reproduction;Acrosome Reaction (Consensus)

Recessive Scores

• pRec: 0.260

Intolerance Scores

• loftool: 0.267
• rvis_EVS: -0.6
• rvis_percentile_EVS: 17.91

Haploinsufficiency Scores

• pHI: 0.186
• hipred: N
• hipred_score: 0.277
• ghis: 0.530

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.365

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acr
• Phenotype: reproductive system phenotype; normal phenotype

Gene ontology

• Biological process: acrosome matrix dispersal;activation of adenylate cyclase activity;single fertilization;binding of sperm to zona pellucida;acrosome reaction;penetration of zona pellucida;response to steroid hormone
• Cellular component: extracellular region;nucleus;Golgi-associated vesicle;protein-containing complex;acrosomal matrix
• Molecular function: protease binding;DNA binding;amidase activity;serine-type endopeptidase activity;copper ion binding;protein binding;mannose binding;drug binding;zinc ion binding;fucose binding