MAFIP
Basic information
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 MAFIP 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 | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Acts as coactivator of MAFF transcriptional activity. Inhibits cell growth and colony-forming efficiency. {ECO:0000269|PubMed:15881666, ECO:0000269|PubMed:16549056}.;
Recessive Scores
- pRec
- 0.145
Intolerance Scores
- loftool
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.32
Haploinsufficiency Scores
- pHI
- 0.184
- hipred
- Y
- hipred_score
- 0.704
- ghis
Mouse Genome Informatics
- Gene name
- Mip
- Phenotype
- vision/eye phenotype;
Gene ontology
- Biological process
- flagellated sperm motility;cilium assembly;cilium movement involved in cell motility
- Cellular component
- nucleolus;cytoplasm;sperm flagellum
- Molecular function