MFSD4A

major facilitator superfamily domain containing 4A, the group of Solute carrier family 60

Basic information

Region (hg38): 1:205568885-205602918

Previous symbols: [ "MFSD4" ]

Links

ENSG00000174514 ∙ NCBI:148808 ∙ OMIM:620299 ∙ HGNC:25433 ∙ Uniprot:Q8N468 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MFSD4A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD4A 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	1
missense			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	1	1

Variants in MFSD4A

This is a list of pathogenic ClinVar variants found in the MFSD4A region.

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

Position	Type	Phenotype	Significance	ClinVar
1-205569086-G-A		not specified	Uncertain significance (Jul 09, 2021)
1-205579931-C-T			Benign (Dec 31, 2019)
1-205579938-G-A		not specified	Likely benign (Aug 02, 2021)
1-205599173-G-A		not specified	Uncertain significance (Jul 06, 2021)
1-205599225-A-G		not specified	Uncertain significance (Jun 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFSD4A	protein_coding	protein_coding	ENST00000367147	10	34034

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00235	0.995	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	202	282	0.716	0.0000151	3291
Missense in Polyphen		77	112.52	0.68431		1389
Synonymous	0.130	125	127	0.985	0.00000747	1088
Loss of Function	2.58	8	20.7	0.387	0.00000106	227

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000930	0.0000924
European (Non-Finnish)	0.0000623	0.0000615
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.57
• rvis_percentile_EVS: 82.08

Haploinsufficiency Scores

• pHI: 0.202
• hipred: Y
• hipred_score: 0.625
• ghis: 0.416

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mfsd4a

Gene ontology

• Biological process: glucose transmembrane transport
• Cellular component: integral component of membrane
• Molecular function: glucose transmembrane transporter activity