ARMC8

armadillo repeat containing 8, the group of CTLH complex|Armadillo repeat containing

Basic information

Region (hg38): 3:138187247-138298384

Links

ENSG00000114098 ∙ NCBI:25852 ∙ OMIM:618521 ∙ HGNC:24999 ∙ Uniprot:Q8IUR7 ∙ 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 ARMC8 gene.

• Inborn genetic diseases (14 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMC8 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in ARMC8

This is a list of pathogenic ClinVar variants found in the ARMC8 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-138223468-A-G		not specified	Uncertain significance (Jul 06, 2021)
3-138223516-C-G		not specified	Uncertain significance (Nov 02, 2023)
3-138223524-A-C		not specified	Uncertain significance (Jan 10, 2022)
3-138223654-T-C		not specified	Uncertain significance (Jun 03, 2022)
3-138223661-T-A		not specified	Uncertain significance (Oct 12, 2022)
3-138223693-T-C		not specified	Uncertain significance (Jun 26, 2023)
3-138228964-G-A		not specified	Uncertain significance (Jun 21, 2023)
3-138237358-C-T		not specified	Uncertain significance (Feb 28, 2023)
3-138239499-C-T		not specified	Uncertain significance (Oct 13, 2023)
3-138239500-G-A		not specified	Uncertain significance (Mar 20, 2023)
3-138239502-A-G		not specified	Uncertain significance (Sep 29, 2022)
3-138241822-T-G		not specified	Uncertain significance (Oct 04, 2022)
3-138241831-G-C		not specified	Uncertain significance (Jul 06, 2021)
3-138241862-A-G		not specified	Uncertain significance (Oct 26, 2022)
3-138241874-C-G		not specified	Uncertain significance (Sep 28, 2021)
3-138245175-C-T		not specified	Uncertain significance (Jan 29, 2024)
3-138270061-G-A		not specified	Uncertain significance (Aug 08, 2022)
3-138273015-A-G		not specified	Uncertain significance (Oct 17, 2023)
3-138274467-A-G		not specified	Uncertain significance (Sep 20, 2023)
3-138295866-A-G		not specified	Uncertain significance (Feb 11, 2022)
3-138295868-G-C			Uncertain significance (Mar 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMC8	protein_coding	protein_coding	ENST00000481646	22	111123

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000117	125740	0	6	125746	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.88	199	351	0.567	0.0000179	4297
Missense in Polyphen		49	111.81	0.43825		1400
Synonymous	2.09	93	122	0.760	0.00000602	1235
Loss of Function	5.81	3	45.1	0.0665	0.00000256	528

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000941	0.0000924
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000352	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. {ECO:0000269|PubMed:29911972}.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.529
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.319
• hipred: Y
• hipred_score: 0.688
• ghis: 0.631

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.266

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Armc8

Gene ontology

• Biological process: proteasome-mediated ubiquitin-dependent protein catabolic process;neutrophil degranulation
• Cellular component: ubiquitin ligase complex;extracellular region;nucleus;cytoplasm;GID complex;specific granule lumen;tertiary granule lumen
• Molecular function: protein binding