MFSD12

major facilitator superfamily domain containing 12

Basic information

Region (hg38): 19:3538261-3574290

Previous symbols: [ "C19orf28" ]

Links

ENSG00000161091NCBI:126321OMIM:617745HGNC:28299Uniprot:Q6NUT3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MFSD12 gene.

  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000174983.5. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
2
missense
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 0 3 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MFSD12protein_codingprotein_codingENST00000398558 1036030
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.73e-180.0037912462802181248460.000873
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-2.744593211.430.00001973348
Missense in Polyphen151105.141.43621143
Synonymous-3.912141531.400.00001061155
Loss of Function-0.1152625.41.020.00000133256

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007580.000755
Ashkenazi Jewish0.008320.00827
East Asian0.0001130.000111
Finnish0.0001410.000139
European (Non-Finnish)0.0008000.000777
Middle Eastern0.0001130.000111
South Asian0.0005580.000556
Other0.0006730.000659

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
rvis_EVS
-0.26
rvis_percentile_EVS
34.98

Haploinsufficiency Scores

pHI
0.145
hipred
N
hipred_score
0.219
ghis
0.487

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mfsd12
Phenotype
craniofacial phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); skeleton 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); 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; pigmentation phenotype;

Zebrafish Information Network

Gene name
mfsd12a
Affected structure
xanthophore
Phenotype tag
abnormal
Phenotype quality
disrupted

Gene ontology

Biological process
carbohydrate transport;transmembrane transport;organic substance transport
Cellular component
lysosomal membrane;integral component of plasma membrane;integral component of membrane
Molecular function
transporter activity;symporter activity