MOSPD1
Basic information
Region (hg38): X:134887632-134915257
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 MOSPD1 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 9 | 0 | 0 |
Variants in MOSPD1
This is a list of pathogenic ClinVar variants found in the MOSPD1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| X-134891541-G-A | not specified | Uncertain significance (Jun 16, 2024) | ||
| X-134891574-G-A | not specified | Uncertain significance (Feb 23, 2023) | ||
| X-134896870-C-A | not specified | Uncertain significance (May 17, 2023) | ||
| X-134896919-T-C | not specified | Uncertain significance (Jun 16, 2024) | ||
| X-134896933-T-C | not specified | Uncertain significance (Oct 20, 2024) | ||
| X-134897012-G-C | not specified | Uncertain significance (Jan 23, 2024) | ||
| X-134897020-C-T | not specified | Uncertain significance (Dec 01, 2023) | ||
| X-134899124-C-T | not specified | Uncertain significance (Nov 26, 2024) | ||
| X-134899367-C-T | not specified | Uncertain significance (May 15, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MOSPD1 | protein_coding | protein_coding | ENST00000370783 | 5 | 27642 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.925 | 0.0747 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.33 | 43 | 75.5 | 0.570 | 0.00000558 | 1365 |
| Missense in Polyphen | 14 | 28.721 | 0.48745 | 504 | ||
| Synonymous | -0.177 | 31 | 29.8 | 1.04 | 0.00000230 | 420 |
| Loss of Function | 2.67 | 0 | 8.28 | 0.00 | 6.33e-7 | 148 |
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) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to- mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation. {ECO:0000250|UniProtKB:Q8VEL0}.;
Recessive Scores
- pRec
- 0.105
Intolerance Scores
- loftool
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 52.85
Haploinsufficiency Scores
- pHI
- 0.170
- hipred
- Y
- hipred_score
- 0.580
- ghis
- 0.570
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mospd1
- Phenotype
- skeleton phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;cell differentiation;positive regulation of transcription by RNA polymerase II
- Cellular component
- Golgi membrane;nucleus;cytoplasm;endoplasmic reticulum membrane;integral component of membrane;perinuclear region of cytoplasm
- Molecular function