ARMC9

armadillo repeat containing 9, the group of MicroRNA protein coding host genes|Armadillo repeat containing

Basic information

Region (hg38): 2:231198546-231376848

Links

ENSG00000135931

∙ NCBI:80210 ∙ OMIM:617612 ∙ HGNC:20730 ∙ Uniprot:Q7Z3E5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Joubert syndrome 30 (Definitive), mode of inheritance: AR
Joubert syndrome 30 (Strong), mode of inheritance: AR
Joubert syndrome (Supportive), mode of inheritance: AR
Joubert syndrome 30 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Joubert syndrome 30	AR	Endocrine	The condition has been described as involving panhypopituitarism, and awareness may allow early diagnosis and medical management (eg, with hormone replacement therapy)	Endocrine; Musculoskeletal; Neurologic; Ophthalmologic	28625504

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARMC9 gene.

not_provided (620 variants)
Inborn_genetic_diseases (85 variants)
Joubert_syndrome_30 (30 variants)
ARMC9-related_disorder (24 variants)
ARMC9-related_Joubert_syndrome (11 variants)
Joubert_syndrome (9 variants)
not_specified (2 variants)
Dandy-Walker_syndrome (2 variants)
EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
Diabetes_mellitus (1 variants)
Corpus_callosum,_agenesis_of (1 variants)
See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMC9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001352754.2. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous	1 clinvar	1 clinvar	6 clinvar	134 clinvar	6 clinvar	148
missense		5 clinvar	298 clinvar	17 clinvar	10 clinvar	330
nonsense	6 clinvar	1 clinvar	2 clinvar			9
start loss						0
frameshift	12 clinvar	3 clinvar	3 clinvar		1 clinvar	19
splice donor/acceptor (+/-2bp)	2 clinvar	18 clinvar	4 clinvar		1 clinvar	25
Total	21	28	313	151	18

Highest pathogenic variant AF is 0.0000718725

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMC9	protein_coding	protein_coding	ENST00000349938	20	176289

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.20e-17	0.179	125663	0	85	125748	0.000338

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.851	333	380	0.877	0.0000216	4355
Missense in Polyphen		106	139.74	0.75855		1576
Synonymous	0.188	150	153	0.981	0.00000912	1254
Loss of Function	1.29	30	38.6	0.776	0.00000182	483

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000784	0.000782
Ashkenazi Jewish	0.00	0.00
East Asian	0.000491	0.000489
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000531	0.000378
Middle Eastern	0.000491	0.000489
South Asian	0.000462	0.000425
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Required for ciliogenesis. {ECO:0000250|UniProtKB:E7F187}.;
Disease: DISEASE: Joubert syndrome 30 (JBTS30) [MIM:617622]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive. {ECO:0000269|PubMed:28625504}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec: 0.243

Intolerance Scores

loftool: 0.927
rvis_EVS: 0.25
rvis_percentile_EVS: 69.62

Haploinsufficiency Scores

pHI: 0.347
hipred: N
hipred_score: 0.348
ghis: 0.463

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.380

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Armc9
Phenotype

Zebrafish Information Network

Gene name: armc9
Affected structure: photoreceptor cell
Phenotype tag: abnormal
Phenotype quality: decreased length

Gene ontology

Biological process: cilium assembly
Cellular component: cytoplasm;ciliary basal body;extracellular exosome
Molecular function