ARMH4

armadillo like helical domain containing 4, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 14:57999735-58298139

Previous symbols: [ "C14orf37" ]

Links

ENSG00000139971 ∙ NCBI:145407 ∙ ∙ HGNC:19846 ∙ Uniprot:Q86TY3 ∙ 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 ARMH4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMH4 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			7	2		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	3	0

Variants in ARMH4

This is a list of pathogenic ClinVar variants found in the ARMH4 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-58096945-T-C		not specified	Uncertain significance (Oct 20, 2021)
14-58131659-T-C		not specified	Uncertain significance (Sep 17, 2021)
14-58131676-A-T		not specified	Uncertain significance (Aug 02, 2021)
14-58131719-G-C			Likely benign (Apr 01, 2023)
14-58133255-C-T		not specified	Uncertain significance (Oct 12, 2021)
14-58133258-G-T		not specified	Uncertain significance (Aug 18, 2021)
14-58138232-G-A		not specified	Likely benign (Nov 12, 2021)
14-58138399-C-G		not specified	Uncertain significance (Jul 06, 2021)
14-58138571-T-C		not specified	Uncertain significance (Dec 16, 2023)
14-58139302-G-A			Likely benign (Mar 01, 2023)
14-58200233-G-A		not specified	Uncertain significance (Jun 10, 2024)
14-58200274-C-G		not specified	Uncertain significance (Jul 14, 2022)
14-58200284-G-T		not specified	Uncertain significance (Nov 28, 2023)
14-58207949-T-G		not specified	Uncertain significance (Aug 12, 2021)
14-58209084-C-T		not specified	Uncertain significance (Jan 31, 2023)
14-58215244-C-A		not specified	Uncertain significance (May 23, 2024)
14-58215246-C-A		not specified	Uncertain significance (Apr 24, 2024)
14-58219703-C-T		not specified	Uncertain significance (Nov 12, 2021)
14-58223622-C-T		not specified	Likely benign (Dec 27, 2023)
14-58223624-C-T		not specified	Uncertain significance (Mar 21, 2023)
14-58223627-A-C		not specified	Uncertain significance (May 26, 2023)
14-58223652-G-A		not specified	Uncertain significance (Oct 13, 2021)
14-58223688-A-T		not specified	Uncertain significance (Mar 31, 2024)
14-58223811-A-G		not specified	Uncertain significance (Apr 09, 2024)
14-58223813-C-G		not specified	Uncertain significance (Nov 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMH4	protein_coding	protein_coding	ENST00000267485	7	298405

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.73e-7	0.965	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0666	409	405	1.01	0.0000204	5056
Missense in Polyphen		19	27.587	0.68874		298
Synonymous	-1.13	173	155	1.11	0.00000872	1569
Loss of Function	2.02	15	26.2	0.573	0.00000128	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000326	0.000326
Ashkenazi Jewish	0.000209	0.000198
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.000109	0.000109
South Asian	0.000163	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.43
• rvis_percentile_EVS: 77.31

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.145
• ghis: 0.466

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Armh4

Gene ontology

• Cellular component: integral component of membrane