ACTMAP

actin maturation protease

Basic information

Region (hg38): 19:40740856-40751553

Previous symbols: [ "C19orf54" ]

Links

ENSG00000188493 ∙ NCBI:284325 ∙ OMIM:620093 ∙ HGNC:24758 ∙ Uniprot:Q5BKX5 ∙ 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 ACTMAP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTMAP 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in ACTMAP

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

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

Position	Type	Phenotype	Significance	ClinVar
19-40742489-G-A		not specified	Uncertain significance (Aug 02, 2021)
19-40742510-C-T		not specified	Uncertain significance (Oct 14, 2021)
19-40744582-G-A		not specified	Uncertain significance (Sep 27, 2021)
19-40744607-G-A		not specified	Uncertain significance (Nov 05, 2021)
19-40744625-G-A		not specified	Uncertain significance (Oct 05, 2021)
19-40749617-C-T		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTMAP	protein_coding	protein_coding	ENST00000378313	6	10698

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000513	0.672	125521	0	64	125585	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0459	187	189	0.991	0.0000115	2188
Missense in Polyphen		44	56.648	0.77673		661
Synonymous	-1.41	102	85.4	1.19	0.00000564	774
Loss of Function	1.02	10	14.1	0.707	7.88e-7	149

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000397	0.000395
Ashkenazi Jewish	0.00271	0.00268
East Asian	0.000326	0.000326
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000189	0.000185
Middle Eastern	0.000326	0.000326
South Asian	0.00	0.00
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.213
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.25

Haploinsufficiency Scores

• pHI: 0.0825
• hipred: N
• hipred_score: 0.144
• ghis: 0.597

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: BC024978