ACP7

acid phosphatase 7, tartrate resistant (putative), the group of Acid phosphatases

Basic information

Region (hg38): 19:39083913-39111493

Links

ENSG00000183760 ∙ NCBI:390928 ∙ OMIM:610490 ∙ HGNC:33781 ∙ Uniprot:Q6ZNF0 ∙ 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 ACP7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACP7 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in ACP7

This is a list of pathogenic ClinVar variants found in the ACP7 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-39100263-G-A		not specified	Uncertain significance (Oct 26, 2021)
19-39100813-T-C		not specified	Uncertain significance (Oct 06, 2021)
19-39107019-G-A		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACP7	protein_coding	protein_coding	ENST00000331256	12	27581

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.14e-9	0.875	125599	0	149	125748	0.000593

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.322	271	286	0.947	0.0000184	2834
Missense in Polyphen		92	111.27	0.82685		1121
Synonymous	-0.125	116	114	1.01	0.00000727	871
Loss of Function	1.74	18	27.9	0.645	0.00000161	270

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000503	0.000503
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00158	0.00158
Finnish	0.000277	0.000277
European (Non-Finnish)	0.000828	0.000827
Middle Eastern	0.00158	0.00158
South Asian	0.0000982	0.0000980
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.51

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.459
• ghis: 0.533

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Acp7

Gene ontology

• Biological process: dephosphorylation
• Cellular component: extracellular region
• Molecular function: acid phosphatase activity;metal ion binding