OSR1
odd-skipped related transcription factor 1, the group of Zinc fingers C2H2-type
Basic information
Region (hg38): 2:19351485-19358623
Previous symbols: [ "ODD" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (31 variants)
- not_provided (5 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145260.3. 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 | 4 | |||||
| missense | 31 | 31 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 31 | 4 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| OSR1 | protein_coding | protein_coding | ENST00000536433 | 2 | 7169 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.863 | 0.135 | 125744 | 0 | 1 | 125745 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.74 | 101 | 164 | 0.618 | 0.00000959 | 1719 |
| Missense in Polyphen | 20 | 56.256 | 0.35552 | 599 | ||
| Synonymous | 0.306 | 73 | 76.4 | 0.955 | 0.00000489 | 570 |
| Loss of Function | 2.36 | 0 | 6.51 | 0.00 | 3.18e-7 | 84 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000879 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcription factor that plays a role in the regulation of embryonic heart and urogenital development. {ECO:0000250}.;
Intolerance Scores
- loftool
- 0.0916
- rvis_EVS
- 0.04
- rvis_percentile_EVS
- 56.92
Haploinsufficiency Scores
- pHI
- 0.387
- hipred
- Y
- hipred_score
- 0.604
- ghis
- 0.490
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.921
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Osr1
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; vision/eye phenotype; limbs/digits/tail phenotype; renal/urinary system phenotype; skeleton phenotype; respiratory system phenotype; embryo phenotype;
Zebrafish Information Network
- Gene name
- osr1
- Affected structure
- anterior lateral plate mesoderm
- Phenotype tag
- abnormal
- Phenotype quality
- morphology
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;urogenital system development;ureteric bud development;mesonephros development;chondrocyte differentiation;heart development;gonad development;positive regulation of gene expression;cell differentiation;positive regulation of bone mineralization;negative regulation of epithelial cell differentiation;embryonic forelimb morphogenesis;embryonic hindlimb morphogenesis;embryonic skeletal limb joint morphogenesis;middle ear morphogenesis;odontogenesis;embryonic digit morphogenesis;negative regulation of apoptotic process;positive regulation of transcription by RNA polymerase II;intermediate mesoderm development;pronephros development;stem cell differentiation;positive regulation of epithelial cell proliferation;roof of mouth development;embryonic skeletal joint morphogenesis;cellular response to retinoic acid;metanephric mesenchyme development;cell proliferation involved in kidney development;metanephric mesenchyme morphogenesis;mesangial cell development;metanephric mesenchymal cell differentiation;posterior mesonephric tubule development;specification of anterior mesonephric tubule identity;specification of posterior mesonephric tubule identity;mesonephric duct morphogenesis;negative regulation of nephron tubule epithelial cell differentiation;renal vesicle progenitor cell differentiation;ureter urothelium development;metanephric epithelium development;metanephric smooth muscle tissue development;metanephric nephron tubule development;metanephric glomerulus vasculature development;metanephric interstitial fibroblast development;pattern specification involved in metanephros development;embryonic skeletal joint development;metanephric cap mesenchymal cell proliferation involved in metanephros development;negative regulation of creatine transmembrane transporter activity;positive regulation of gastrulation;negative regulation of sodium ion transmembrane transporter activity
- Cellular component
- nucleus;cytosol;extrinsic component of membrane
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;metal ion binding