ARMCX6

armadillo repeat containing X-linked 6, the group of Armadillo repeat containing

Basic information

Region (hg38): X:101615118-101618001

Links

ENSG00000198960 ∙ NCBI:54470 ∙ OMIM:301048 ∙ HGNC:26094 ∙ Uniprot:Q7L4S7 ∙ 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 ARMCX6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMCX6 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				1		1
missense			6	1		7
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	2	0

Variants in ARMCX6

This is a list of pathogenic ClinVar variants found in the ARMCX6 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-101615970-G-A			Likely benign (Oct 01, 2022)
X-101616145-C-G		not specified	Uncertain significance (Dec 30, 2023)
X-101616200-C-T		not specified	Uncertain significance (Dec 02, 2022)
X-101616262-T-C		not specified	Uncertain significance (Sep 16, 2021)
X-101616283-C-G		not specified	Uncertain significance (Mar 11, 2024)
X-101616352-C-T		not specified	Uncertain significance (Jun 29, 2022)
X-101616396-C-G		not specified	Uncertain significance (Dec 13, 2022)
X-101616488-A-C		not specified	Uncertain significance (Jun 16, 2024)
X-101616568-G-A			Likely benign (Jan 01, 2023)
X-101616590-C-A		not specified	Uncertain significance (Jun 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMCX6	protein_coding	protein_coding	ENST00000539247	1	2882

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.117	0.788	125720	4	6	125730	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.936	110	85.6	1.28	0.00000673	1951
Missense in Polyphen		31	25.093	1.2354		516
Synonymous	-1.84	47	33.5	1.40	0.00000271	576
Loss of Function	1.32	2	5.27	0.379	4.07e-7	109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000365	0.0000365
Ashkenazi Jewish	0.000802	0.000595
East Asian	0.0000721	0.0000544
Finnish	0.0000625	0.0000462
European (Non-Finnish)	0.0000129	0.00000879
Middle Eastern	0.0000721	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate the dynamics and distribution of mitochondria in neural cells. {ECO:0000250|UniProtKB:Q8K3A6}.

Haploinsufficiency Scores

• pHI: 0.153
• hipred: N
• hipred_score: 0.112
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0105

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Armcx6

Gene ontology

• Cellular component: mitochondrial outer membrane;integral component of membrane