GenTIGS

Cadherin related family member 1 (CDHR1) Associated conditions: 1. Retinitis pigmentosa

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
1	REVIEWED	NM_001171971.3	NP_001165442.1	NC_000010.11	(84194536..84219620)	Reference GRCh38.p14 Primary Assembly	Q96JP9
2	REVIEWED	NM_033100.4	NP_149091.1	NC_000010.11	(84194536..84219620)	Reference GRCh38.p14 Primary Assembly	Q96JP9

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 130 reference articles

Variant Information Cadherin related family member 1 (CDHR1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Cadherin related family member 1 (CDHR1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Cadherin related family member 1 (CDHR1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	calcium ion binding	Function	-
2	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
3	Homo sapiens	IEA	located_in	plasma membrane	Component	-
4	Homo sapiens	IBA	involved_in	cell adhesion	Process	-
5	Homo sapiens	IEA	involved_in	cell adhesion	Process	-
6	Homo sapiens	IEA	involved_in	homophilic cell-cell adhesion	Process	-
7	Homo sapiens	IMP	involved_in	photoreceptor cell morphogenesis	Process	23044944
8	Homo sapiens	IEA	located_in	membrane	Component	-
9	Homo sapiens	IMP	involved_in	photoreceptor cell outer segment organization	Process	23044944
10	Homo sapiens	IEA	located_in	photoreceptor outer segment membrane	Component	-
11	Homo sapiens	IEA	involved_in	photoreceptor cell maintenance	Process	-
12	Homo sapiens	IMP	involved_in	photoreceptor cell maintenance	Process	20805371
13	Homo sapiens	IBA	enables	cell adhesion molecule binding	Function	-
14	Homo sapiens	IEA	involved_in	cell-cell adhesion	Process	-