ACRBP

acrosin binding protein, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 12:6638074-6647433

Links

ENSG00000111644 ∙ NCBI:84519 ∙ OMIM:608352 ∙ HGNC:17195 ∙ Uniprot:Q8NEB7 ∙ 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 ACRBP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACRBP 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			24	1		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	1	0

Variants in ACRBP

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

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

Position	Type	Phenotype	Significance	ClinVar
12-6638314-A-G		not specified	Uncertain significance (Nov 09, 2021)
12-6638397-C-T		not specified	Uncertain significance (Sep 13, 2023)
12-6639003-T-A		not specified	Uncertain significance (Nov 10, 2022)
12-6640121-C-T		not specified	Uncertain significance (Jan 19, 2024)
12-6640205-C-T		not specified	Likely benign (Jun 05, 2024)
12-6640387-C-A		not specified	Uncertain significance (Jul 14, 2023)
12-6640398-T-C		not specified	Uncertain significance (May 23, 2024)
12-6643540-G-A		not specified	Uncertain significance (Nov 10, 2022)
12-6643541-A-G		not specified	Uncertain significance (Jun 17, 2024)
12-6643575-C-CT		Neoplasm of brain	risk factor (-)
12-6643582-G-A		not specified	Uncertain significance (Oct 20, 2023)
12-6643645-G-C		not specified	Uncertain significance (Feb 03, 2023)
12-6644212-C-T		not specified	Uncertain significance (Dec 22, 2023)
12-6644236-A-G		not specified	Uncertain significance (Feb 05, 2024)
12-6644310-G-C		not specified	Likely benign (Feb 13, 2024)
12-6644351-C-T		not specified	Uncertain significance (Jun 06, 2023)
12-6644371-C-T		not specified	Uncertain significance (Jun 06, 2023)
12-6644455-T-C		not specified	Uncertain significance (Mar 15, 2024)
12-6644498-G-T		not specified	Uncertain significance (Apr 08, 2022)
12-6644501-C-G		not specified	Uncertain significance (Apr 18, 2023)
12-6644506-G-A		not specified	Uncertain significance (Jan 09, 2024)
12-6644508-T-G		not specified	Uncertain significance (Apr 07, 2022)
12-6644518-C-A		not specified	Uncertain significance (Jun 22, 2023)
12-6644527-G-A		not specified	Uncertain significance (Apr 07, 2022)
12-6645252-G-A		not specified	Uncertain significance (May 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACRBP	protein_coding	protein_coding	ENST00000229243	10	9386

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.70e-10	0.894	125645	0	103	125748	0.000410

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.734	278	315	0.883	0.0000185	3534
Missense in Polyphen		94	128.97	0.72883		1434
Synonymous	0.356	120	125	0.959	0.00000738	1061
Loss of Function	1.85	20	31.1	0.643	0.00000167	321

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000595	0.000594
Ashkenazi Jewish	0.00268	0.00268
East Asian	0.000218	0.000217
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000247	0.000246
Middle Eastern	0.000218	0.000217
South Asian	0.000817	0.000817
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its association with proacrosin. {ECO:0000250}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.921
• rvis_EVS: -0.69
• rvis_percentile_EVS: 15.2

Haploinsufficiency Scores

• pHI: 0.514
• hipred: N
• hipred_score: 0.242
• ghis: 0.483

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.172

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acrbp
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: acrosomal vesicle;acrosomal membrane;extracellular region;nucleus
• Molecular function: molecular_function