ACP7

protein-coding

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

Gene summary

Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_001004318.3

Inheritance

—

ClinVar variants

U:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr19:39,083,913-39,111,493

External References & Databases

Ensembl (ENSG00000183760)

Transcript & Mutation Effects

hg38 • Region Span ~27.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ACP7 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001004318.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			3 clinvar			3
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	4	0	0	4

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001004318.3	RefSeq	NP_001004318.2	12	MANE Select
ENST00000331256.10	Ensembl	ENSP00000327557.4	12	MANE Select
NM_001363687.2	RefSeq	NP_001350616.1	10	Standard
ENST00000594229.1	Ensembl	ENSP00000470989.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

dephosphorylation

Molecular Function

acid phosphatase activity
metal ion binding

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000331256
Coding exons: 12
Length: 27581
Individuals with no LoFs: 125599
Homozygous LoFs: 0
Heterozygous LoFs: 149
Defined: 125748
p: 0.000593

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.322	271	286	0.947	0.0000184	2834
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.0016	0.0016	notable
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00083	0.00083	rare
South Asian	0.000098	0.000098	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: -0.47
RVIS percentile EVS: 23.51

Essentials

Essential (gene trap): N