ARMH3

armadillo like helical domain containing 3, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 10:101845598-102056193

Previous symbols: [ "C10orf76" ]

Links

ENSG00000120029 ∙ NCBI:79591 ∙ ∙ HGNC:25788 ∙ Uniprot:Q5T2E6 ∙ 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 ARMH3 gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMH3 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				1		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in ARMH3

This is a list of pathogenic ClinVar variants found in the ARMH3 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-102006554-G-A			Likely benign (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMH3	protein_coding	protein_coding	ENST00000370033	25	210595

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000628	1.00	124758	0	37	124795	0.000148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.01	271	382	0.710	0.0000199	4579
Missense in Polyphen		66	110	0.60002		1330
Synonymous	0.693	125	135	0.924	0.00000685	1246
Loss of Function	3.82	17	44.5	0.382	0.00000219	543

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000216	0.000216
Ashkenazi Jewish	0.00140	0.00139
East Asian	0.000113	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.0000890	0.0000883
Middle Eastern	0.000113	0.000111
South Asian	0.000131	0.000131
Other	0.000331	0.000330

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0932

Intolerance Scores

• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.37

Haploinsufficiency Scores

• pHI: 0.231
• hipred: Y
• hipred_score: 0.610
• ghis: 0.561

Essentials

• essential_gene_gene_trap: K

Mouse Genome Informatics

• Gene name: Armh3
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding