GenTIGS

Armadillo repeat containing 9 (ARMC9) Associated conditions: 1. Joubert syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 138 reference articles

Variant Information Armadillo repeat containing 9 (ARMC9) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Armadillo repeat containing 9 (ARMC9)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	25416956 32296183 32453716 38949024
2	Homo sapiens	IBA	is_active_in	centriole	Component	-
3	Homo sapiens	IDA	located_in	centriole	Component	28625504
4	Homo sapiens	IEA	located_in	centriole	Component	-
5	Homo sapiens	IEA	located_in	cilium	Component	-
6	Homo sapiens	IEA	involved_in	cell projection organization	Process	-
7	Homo sapiens	IBA	is_active_in	ciliary basal body	Component	-
8	Homo sapiens	IDA	located_in	ciliary basal body	Component	28625504
9	Homo sapiens	IEA	located_in	ciliary basal body	Component	-
10	Homo sapiens	IPI	enables	identical protein binding	Function	32453716
11	Homo sapiens	IEA	involved_in	positive regulation of smoothened signaling pathway	Process	-
12	Homo sapiens	ISS	involved_in	positive regulation of smoothened signaling pathway	Process	-
13	Homo sapiens	IBA	involved_in	cilium assembly	Process	-
14	Homo sapiens	IEA	involved_in	cilium assembly	Process	-
15	Homo sapiens	ISS	involved_in	cilium assembly	Process	-
16	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867
17	Homo sapiens	IBA	is_active_in	ciliary tip	Component	-
18	Homo sapiens	IEA	located_in	ciliary tip	Component	-
19	Homo sapiens	ISS	located_in	ciliary tip	Component	-