MFSD11

major facilitator superfamily domain containing 11

Basic information

Region (hg38): 17:76735865-76781449

Links

ENSG00000092931 ∙ NCBI:79157 ∙ ∙ HGNC:25458 ∙ Uniprot:O43934 ∙ 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 MFSD11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD11 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding		1	1	1	1	4
Total	0	1	27	1	1

Variants in MFSD11

This is a list of pathogenic ClinVar variants found in the MFSD11 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-76736270-C-A		not specified	Uncertain significance (Feb 15, 2023)
17-76736271-G-C		not specified	Uncertain significance (Apr 12, 2023)
17-76736271-GGGACCT-G			Uncertain significance (Jan 19, 2017)
17-76736297-G-C		not specified	Uncertain significance (Sep 06, 2022)
17-76736323-C-T			Likely benign (Mar 01, 2023)
17-76736844-G-A		not specified	Uncertain significance (Oct 03, 2022)
17-76736877-G-A		Acute myeloid leukemia • Atypical chronic myeloid leukemia, BCR-ABL1 negative	Pathogenic (Jun 08, 2023)
17-76736877-G-C		Acute megakaryoblastic leukemia in down syndrome	Likely pathogenic (Sep 01, 2020)
17-76736978-G-A			Likely benign (Feb 01, 2023)
17-76737017-G-A		SRSF2-related disorder	Benign (May 03, 2022)
17-76737069-C-T		not specified	Uncertain significance (Apr 24, 2024)
17-76738399-T-C		not specified	Uncertain significance (Dec 11, 2023)
17-76738404-T-C		not specified	Uncertain significance (Nov 19, 2022)
17-76738947-A-G		not specified	Uncertain significance (Jun 24, 2022)
17-76741032-A-C		not specified	Uncertain significance (Jan 16, 2024)
17-76742024-G-T		not specified	Uncertain significance (Jun 11, 2024)
17-76742188-G-A		not specified	Uncertain significance (Sep 06, 2022)
17-76742230-A-G		not specified	Uncertain significance (Jul 09, 2021)
17-76742261-T-A		not specified	Uncertain significance (Nov 30, 2022)
17-76742272-A-G		not specified	Uncertain significance (Apr 12, 2024)
17-76743430-C-T		not specified	Uncertain significance (Jun 24, 2022)
17-76744344-T-G		not specified	Uncertain significance (Sep 14, 2022)
17-76744378-G-A		not specified	Uncertain significance (Jan 23, 2024)
17-76744390-C-A		not specified	Uncertain significance (Feb 07, 2023)
17-76754061-A-G		not specified	Uncertain significance (Jun 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFSD11	protein_coding	protein_coding	ENST00000588460	13	45585

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000678	0.978	125659	0	89	125748	0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	198	246	0.803	0.0000124	2967
Missense in Polyphen		57	81.194	0.70202		969
Synonymous	-1.08	101	88.1	1.15	0.00000485	864
Loss of Function	2.08	12	22.7	0.529	0.00000104	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000417	0.000416
Ashkenazi Jewish	0.00	0.00
East Asian	0.000166	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000501	0.000501
Middle Eastern	0.000166	0.000163
South Asian	0.000505	0.000457
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.596
• rvis_EVS: -0.65
• rvis_percentile_EVS: 16.36

Haploinsufficiency Scores

• pHI: 0.0439
• hipred: N
• hipred_score: 0.488
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.582

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mfsd11

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;integral component of membrane
• Molecular function: molecular_function