MFSD10

major facilitator superfamily domain containing 10

Basic information

Region (hg38): 4:2930561-2934834

Links

ENSG00000109736 ∙ NCBI:10227 ∙ OMIM:610977 ∙ HGNC:16894 ∙ Uniprot:Q14728 ∙ 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 MFSD10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD10 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			45	2		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	2	0

Variants in MFSD10

This is a list of pathogenic ClinVar variants found in the MFSD10 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-2930854-G-T		not specified	Uncertain significance (May 03, 2023)
4-2930917-G-A		not specified	Uncertain significance (Sep 13, 2023)
4-2930929-G-C		not specified	Uncertain significance (Jan 24, 2023)
4-2930939-C-T		not specified	Uncertain significance (Mar 06, 2023)
4-2931081-C-G		not specified	Uncertain significance (Aug 16, 2021)
4-2931115-G-T		not specified	Uncertain significance (Nov 09, 2023)
4-2931262-A-C		not specified	Uncertain significance (Apr 28, 2022)
4-2931269-C-T		not specified	Uncertain significance (Jul 09, 2021)
4-2931407-A-G		not specified	Uncertain significance (Feb 21, 2024)
4-2931441-A-G		not specified	Uncertain significance (Aug 16, 2022)
4-2931452-A-G		not specified	Uncertain significance (Aug 09, 2021)
4-2931566-C-T		not specified	Uncertain significance (Jun 13, 2023)
4-2931578-C-T		not specified	Likely benign (Apr 13, 2023)
4-2931587-G-A		not specified	Uncertain significance (Mar 16, 2022)
4-2931601-T-C		not specified	Uncertain significance (Nov 05, 2021)
4-2931607-C-G		not specified	Uncertain significance (Oct 25, 2022)
4-2931616-G-A		not specified	Uncertain significance (Jul 14, 2021)
4-2931831-A-T		not specified	Uncertain significance (Jun 29, 2022)
4-2931834-T-G		not specified	Uncertain significance (Jun 22, 2023)
4-2931840-C-T		not specified	Uncertain significance (Mar 29, 2022)
4-2931846-T-G		not specified	Uncertain significance (Dec 30, 2023)
4-2931864-G-A		not specified	Uncertain significance (Sep 26, 2023)
4-2931879-G-A		not specified	Uncertain significance (Apr 23, 2024)
4-2931918-C-A		not specified	Uncertain significance (Apr 01, 2024)
4-2931922-G-A		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFSD10	protein_coding	protein_coding	ENST00000329687	12	4299

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.33e-11	0.137	125472	0	255	125727	0.00101

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.745	329	293	1.12	0.0000194	2807
Missense in Polyphen		152	132.01	1.1514		1340
Synonymous	-2.69	178	138	1.29	0.00000925	1052
Loss of Function	0.509	17	19.4	0.875	9.02e-7	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000570	0.000563
Ashkenazi Jewish	0.00	0.00
East Asian	0.000909	0.000870
Finnish	0.00381	0.00356
European (Non-Finnish)	0.00122	0.00118
Middle Eastern	0.000909	0.000870
South Asian	0.000276	0.000261
Other	0.000672	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Confers cellular resistance to apoptosis induced by the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. May act as an efflux pump. {ECO:0000269|PubMed:17362938}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.667
• rvis_EVS: -1.15
• rvis_percentile_EVS: 6.23

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.197
• ghis: 0.638

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.219

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mfsd10

Gene ontology

• Biological process: apoptotic process;tetracycline transport;sodium-independent organic anion transport;transmembrane transport
• Cellular component: integral component of membrane;cytoplasmic vesicle membrane;brush border membrane
• Molecular function: tetracycline transmembrane transporter activity;organic anion transmembrane transporter activity