ARMC10

armadillo repeat containing 10, the group of Armadillo repeat containing

Basic information

Region (hg38): 7:103074881-103099759

Links

ENSG00000170632 ∙ NCBI:83787 ∙ OMIM:611864 ∙ HGNC:21706 ∙ Uniprot:Q8N2F6 ∙ 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 ARMC10 gene.

• not_specified (45 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMC10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031905.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			43	2		45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMC10	protein_coding	protein_coding	ENST00000323716	7	24878

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000121	0.849	125663	0	84	125747	0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.353	139	151	0.919	0.00000725	2155
Missense in Polyphen		48	57.394	0.83632		837
Synonymous	0.154	58	59.5	0.975	0.00000293	684
Loss of Function	1.32	8	13.2	0.608	6.20e-7	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000132	0.000132
Ashkenazi Jewish	0.00	0.00
East Asian	0.00263	0.00261
Finnish	0.00	0.00
European (Non-Finnish)	0.000169	0.000167
Middle Eastern	0.00263	0.00261
South Asian	0.000434	0.000425
Other	0.000176	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cell survival and cell growth. May suppress the transcriptional activity of p53/TP53. {ECO:0000269|PubMed:12839973, ECO:0000269|PubMed:17904127}.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.936
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.2

Haploinsufficiency Scores

• pHI: 0.0903
• hipred: N
• hipred_score: 0.164
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.548

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Armc10

Gene ontology

• Biological process: regulation of growth
• Cellular component: mitochondrion;endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane