ODAM
Basic information
Region (hg38): 4:70195725-70204576
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (34 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ODAM gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017855.4. 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 | 0 | |||||
| missense | 33 | 34 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 33 | 1 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ODAM | protein_coding | protein_coding | ENST00000396094 | 10 | 8081 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.52e-15 | 0.00670 | 125570 | 0 | 102 | 125672 | 0.000406 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.470 | 154 | 138 | 1.11 | 0.00000622 | 1792 |
| Missense in Polyphen | 39 | 31.511 | 1.2377 | 365 | ||
| Synonymous | -1.06 | 56 | 46.7 | 1.20 | 0.00000215 | 533 |
| Loss of Function | -0.264 | 22 | 20.7 | 1.06 | 9.82e-7 | 227 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00187 | 0.00186 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00207 | 0.00202 |
| Finnish | 0.0000466 | 0.0000462 |
| European (Non-Finnish) | 0.000206 | 0.000202 |
| Middle Eastern | 0.00207 | 0.00202 |
| South Asian | 0.0000662 | 0.0000653 |
| Other | 0.000340 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Tooth-associated epithelia protein that probably plays a role in odontogenesis, the complex process that results in the initiation and generation of the tooth. May be incorporated in the enamel matrix at the end of mineralization process. Involved in the induction of RHOA activity via interaction with ARHGEF and expression of downstream factors such as ROCK. Plays a role in attachment of the junctional epithelium to the tooth surface. {ECO:0000269|PubMed:25911094}.;
Intolerance Scores
- loftool
- 0.841
- rvis_EVS
- 0.26
- rvis_percentile_EVS
- 70.26
Haploinsufficiency Scores
- pHI
- 0.0980
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.401
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.292
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Odam
- Phenotype
Gene ontology
- Biological process
- positive regulation of protein phosphorylation;inflammatory response;positive regulation of gene expression;biomineral tissue development;regulation of actin cytoskeleton organization;odontogenesis of dentin-containing tooth;positive regulation of GTPase activity;cellular protein metabolic process;positive regulation of epithelial cell proliferation involved in wound healing
- Cellular component
- extracellular region;extracellular space;nucleus;cytoplasm;cell periphery;supramolecular fiber
- Molecular function
- protein binding