MAFF
Basic information
Region (hg38): 22:38200766-38216507
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 MAFF 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 | 8 | 1 | 0 |
Variants in MAFF
This is a list of pathogenic ClinVar variants found in the MAFF region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 22-38214461-C-A | not specified | Uncertain significance (Jul 17, 2023) | ||
| 22-38214739-G-T | not specified | Uncertain significance (Aug 16, 2022) | ||
| 22-38214745-T-C | not specified | Uncertain significance (Nov 18, 2023) | ||
| 22-38214753-G-A | not specified | Uncertain significance (Dec 13, 2023) | ||
| 22-38214762-C-T | not specified | Uncertain significance (Mar 11, 2024) | ||
| 22-38214768-A-G | not specified | Likely benign (Apr 07, 2023) | ||
| 22-38214807-T-C | not specified | Uncertain significance (Jun 01, 2023) | ||
| 22-38214839-C-G | not specified | Uncertain significance (Apr 19, 2023) | ||
| 22-38214843-C-T | not specified | Uncertain significance (Oct 18, 2021) | ||
| 22-38214870-T-A | not specified | Uncertain significance (May 02, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MAFF | protein_coding | protein_coding | ENST00000338483 | 2 | 14630 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0155 | 0.711 | 114474 | 0 | 1 | 114475 | 0.00000437 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.70 | 48 | 94.3 | 0.509 | 0.00000642 | 1003 |
| Missense in Polyphen | 8 | 46.018 | 0.17385 | 416 | ||
| Synonymous | 1.78 | 30 | 45.3 | 0.663 | 0.00000308 | 372 |
| Loss of Function | 0.674 | 3 | 4.55 | 0.659 | 2.34e-7 | 50 |
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 | 0.0000343 | 0.0000343 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:8932385). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2L1/NRF1, and recruiting them to specific DNA-binding sites. Interacts with the upstream promoter region of the oxytocin receptor gene (PubMed:8932385, PubMed:16549056). May be a transcriptional enhancer in the up- regulation of the oxytocin receptor gene at parturition (PubMed:10527846). {ECO:0000269|PubMed:10527846, ECO:0000269|PubMed:16549056, ECO:0000269|PubMed:8932385}.;
- Pathway
- Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Nuclear Receptors Meta-Pathway;NRF2 pathway;Myometrial Relaxation and Contraction Pathways;oxidative stress induced gene expression via nrf2;Factors involved in megakaryocyte development and platelet production;Hemostasis
(Consensus)
Recessive Scores
- pRec
- 0.161
Haploinsufficiency Scores
- pHI
- 0.259
- hipred
- Y
- hipred_score
- 0.692
- ghis
- 0.590
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Maff
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- in utero embryonic development;transcription by RNA polymerase II;parturition;blood coagulation;skeletal muscle cell differentiation;regulation of epidermal cell differentiation;positive regulation of transcription by RNA polymerase II
- Cellular component
- nucleus;nucleoplasm;mitochondrion
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;sequence-specific DNA binding