ODR4
protein-codingodr-4 GPCR localization factor homolog
Gene summary
Predicted to be involved in intracellular protein localization. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jun 2026]
- C1orf27
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~45.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ODR4 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_017847.6. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 3 | ||||
| missense | 7 | 7 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 15 | 0 | 0 | 15 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_060317.3 | 13 | MANE Select | |
| Ensembl | ENSP00000287859.6 | 13 | MANE Select | |
| RefSeq | NP_001157717.1 | 12 | Standard | |
| RefSeq | NP_001157718.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- protein localization
Cellular Component
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000287859
- Coding exons
- 13
- Length
- 45621
- Individuals with no LoFs
- 124606
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 18
- Defined
- 124624
- p
- 0.0000722
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.827 | 176 | 210 | 0.839 | 0.00000974 | 2954 |
| Missense (PolyPhen) | 35 | 52.066 | 0.67223 | 697 | ||
| Synonymous | 0.404 | 67 | 71.3 | 0.939 | 0.00000348 | 817 |
| Loss of Function | 1.75 | 14 | 23.1 | 0.607 | 0.00000109 | 334 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00013 | 0.00013 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000068 | 0.000056 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00014 | 0.00013 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in the trafficking of a subset of G- protein coupled receptors. {ECO:0000250|UniProtKB:Q8I7F8}.;
Recessive Scores
- pRec
- 0.0956
Intolerance Scores
- RVIS EVS
- 0.64
- RVIS percentile EVS
- 83.98
Essentials
- Essential (gene trap)
- N