ADIRF
Basic information
Region (hg38): 10:86968432-87007922
Previous symbols: [ "C10orf116" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADIRF gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 4 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 4 | 0 | 0 |
Variants in ADIRF
This is a list of pathogenic ClinVar variants found in the ADIRF region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 10-86968587-G-T | not specified | Uncertain significance (Aug 04, 2023) | ||
| 10-86968588-G-C | not specified | Uncertain significance (Dec 21, 2023) | ||
| 10-86970203-C-T | not specified | Uncertain significance (Feb 27, 2024) | ||
| 10-86970217-G-C | not specified | Uncertain significance (Mar 29, 2024) | ||
| 10-86970218-C-T | not specified | Uncertain significance (Mar 29, 2024) | ||
| 10-86970577-A-C | not specified | Uncertain significance (Aug 10, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ADIRF | protein_coding | protein_coding | ENST00000372013 | 3 | 15743 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0365 | 0.648 | 125545 | 0 | 5 | 125550 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0462 | 37 | 36.2 | 1.02 | 0.00000178 | 480 |
| Missense in Polyphen | 15 | 14.482 | 1.0358 | 208 | ||
| Synonymous | -0.425 | 18 | 15.8 | 1.14 | 9.23e-7 | 145 |
| Loss of Function | 0.383 | 2 | 2.68 | 0.747 | 1.14e-7 | 38 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000464 | 0.0000463 |
| European (Non-Finnish) | 0.0000178 | 0.0000176 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in fat cell development; promotes adipogenic differentiation and stimulates transcription initiation of master adipogenesis factors like PPARG and CEBPA at early stages of preadipocyte differentiation. Its overexpression confers resistance to the anticancer chemotherapeutic drug cisplatin. {ECO:0000269|PubMed:19444912, ECO:0000269|PubMed:23239344}.;
Recessive Scores
- pRec
- 0.123
Intolerance Scores
- loftool
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 49.39
Haploinsufficiency Scores
- pHI
- 0.148
- hipred
- N
- hipred_score
- 0.215
- ghis
- 0.599
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Medium |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- cell differentiation;positive regulation of fat cell differentiation;positive regulation of transcription by RNA polymerase II;cellular response to radiation;cellular response to cisplatin;regulation of response to drug
- Cellular component
- nucleus;nucleoplasm;cytosol;extracellular exosome
- Molecular function
- molecular_function