APMAP

adipocyte plasma membrane associated protein

Basic information

Region (hg38): 20:24962925-24992751

Previous symbols: [ "C20orf3" ]

Links

ENSG00000101474 ∙ NCBI:57136 ∙ OMIM:615884 ∙ HGNC:13238 ∙ Uniprot:Q9HDC9 ∙ 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 APMAP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APMAP 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			30			30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	0	0

Variants in APMAP

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

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

Position	Type	Phenotype	Significance	ClinVar
20-24963943-C-T		not specified	Uncertain significance (Aug 21, 2023)
20-24963952-C-T		not specified	Uncertain significance (Oct 17, 2023)
20-24963953-C-A		not specified	Uncertain significance (Sep 10, 2024)
20-24963955-C-T		not specified	Uncertain significance (Mar 15, 2024)
20-24963979-C-T		not specified	Uncertain significance (Sep 22, 2023)
20-24963982-T-C		not specified	Uncertain significance (Jun 03, 2022)
20-24963985-C-G		not specified	Uncertain significance (May 13, 2024)
20-24963985-C-T		not specified	Uncertain significance (Dec 27, 2023)
20-24963986-G-A		not specified	Uncertain significance (Jun 18, 2021)
20-24968960-G-C		not specified	Uncertain significance (Nov 09, 2024)
20-24968963-G-A		not specified	Uncertain significance (Oct 20, 2024)
20-24968998-C-A		not specified	Uncertain significance (Jun 26, 2024)
20-24969030-C-T		not specified	Uncertain significance (Feb 06, 2023)
20-24969616-A-G		not specified	Uncertain significance (Mar 24, 2023)
20-24969647-C-G		not specified	Uncertain significance (Aug 23, 2021)
20-24970198-G-A		not specified	Uncertain significance (Mar 01, 2024)
20-24970215-T-C		not specified	Uncertain significance (Jun 29, 2023)
20-24970239-C-T		not specified	Uncertain significance (Nov 03, 2023)
20-24970264-C-T		not specified	Uncertain significance (Feb 16, 2023)
20-24970345-C-T		not specified	Uncertain significance (Aug 28, 2024)
20-24971499-C-T		not specified	Uncertain significance (Aug 02, 2021)
20-24971513-G-A		not specified	Uncertain significance (Jan 08, 2024)
20-24971532-G-A		not specified	Uncertain significance (Oct 09, 2024)
20-24971538-C-T		not specified	Uncertain significance (Sep 28, 2022)
20-24973656-G-A		not specified	Uncertain significance (Jan 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
APMAP	protein_coding	protein_coding	ENST00000217456	9	30055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.33e-11	0.157	125693	0	55	125748	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.775	215	249	0.862	0.0000146	2689
Missense in Polyphen		57	59.24	0.96219		599
Synonymous	-0.0886	105	104	1.01	0.00000655	865
Loss of Function	0.566	17	19.7	0.862	0.00000129	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000586	0.000582
Ashkenazi Jewish	0.00	0.00
East Asian	0.000346	0.000326
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.000346	0.000326
South Asian	0.000465	0.000457
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation. {ECO:0000269|PubMed:18513186}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• rvis_EVS: 0.58
• rvis_percentile_EVS: 82.3

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.350
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Apmap

Gene ontology

• Biological process: biological_process;biosynthetic process
• Cellular component: endoplasmic reticulum;cell surface;membrane;integral component of membrane
• Molecular function: arylesterase activity;strictosidine synthase activity