MDFI

MyoD family inhibitor

Basic information

Region (hg38): 6:41636882-41654244

Links

ENSG00000112559NCBI:4188OMIM:604971HGNC:6967Uniprot:Q99750AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MDFI gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MDFI 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
1
clinvar
1
missense
19
clinvar
1
clinvar
20
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 19 1 1

Variants in MDFI

This is a list of pathogenic ClinVar variants found in the MDFI region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
6-41638822-C-T not specified Uncertain significance (Dec 06, 2024)3393985
6-41646158-G-A not specified Uncertain significance (Oct 10, 2023)3124552
6-41646178-C-A not specified Uncertain significance (Jun 18, 2021)2375848
6-41646219-C-T not specified Uncertain significance (Apr 11, 2023)2535910
6-41646256-C-T Likely benign (Jun 08, 2018)779248
6-41646285-A-G not specified Uncertain significance (Nov 28, 2023)3124553
6-41649637-C-G not specified Uncertain significance (Nov 15, 2021)2261727
6-41649706-C-T not specified Uncertain significance (Dec 19, 2022)2406373
6-41649724-G-A not specified Uncertain significance (May 18, 2023)2531338
6-41649742-G-A Benign (Jun 08, 2018)789591
6-41649750-C-A not specified Uncertain significance (Jul 14, 2021)2237508
6-41649788-G-C not specified Uncertain significance (Mar 22, 2023)2523526
6-41649790-G-C not specified Uncertain significance (Aug 07, 2024)3393986
6-41653320-C-G not specified Uncertain significance (Aug 20, 2024)3393987
6-41653346-G-A not specified Uncertain significance (Feb 26, 2024)3124554
6-41653367-C-A not specified Uncertain significance (Feb 12, 2024)3124555
6-41653375-A-G not specified Uncertain significance (Sep 16, 2021)2250623
6-41653413-C-G not specified Uncertain significance (Apr 20, 2024)3293790
6-41653456-G-C not specified Uncertain significance (Jun 17, 2024)3293788
6-41653489-G-A not specified Uncertain significance (Feb 16, 2023)2486616
6-41653537-A-G not specified Uncertain significance (Jun 29, 2022)2224749

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MDFIprotein_codingprotein_codingENST00000230321 417365
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3340.6531257010151257160.0000597
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1241341380.9700.000007941570
Missense in Polyphen4253.1740.78987660
Synonymous-1.027463.71.160.00000457500
Loss of Function2.0828.580.2333.70e-7104

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.0001000.0000992
East Asian0.00005440.0000544
Finnish0.0004430.000416
European (Non-Finnish)0.00003550.0000352
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways (By similarity). {ECO:0000250}.;

Recessive Scores

pRec
0.185

Intolerance Scores

loftool
0.275
rvis_EVS
-0.14
rvis_percentile_EVS
43.57

Haploinsufficiency Scores

pHI
0.476
hipred
N
hipred_score
0.490
ghis
0.509

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.940

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mdfi
Phenotype
limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; embryo phenotype; respiratory system 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); growth/size/body region phenotype;

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;dorsal/ventral axis specification;negative regulation of Wnt signaling pathway;cytoplasmic sequestering of transcription factor;negative regulation of DNA binding;embryonic skeletal system morphogenesis;trophoblast giant cell differentiation
Cellular component
nucleus;cytoplasm
Molecular function
protein binding;transcription factor binding;identical protein binding