MFSD14B

major facilitator superfamily domain containing 14B

Basic information

Region (hg38): 9:94374569-94461042

Previous symbols: [ "HIATL1" ]

Links

ENSG00000148110 ∙ NCBI:84641 ∙ ∙ HGNC:23376 ∙ Uniprot:Q5SR56 ∙ 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 MFSD14B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD14B 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in MFSD14B

This is a list of pathogenic ClinVar variants found in the MFSD14B region.

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

Position	Type	Phenotype	Significance	ClinVar
9-94374826-G-A		not specified	Uncertain significance (Jul 27, 2021)
9-94459314-C-T		not specified	Uncertain significance (Oct 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFSD14B	protein_coding	protein_coding	ENST00000375344	12	86492

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000433	0.998	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.509	241	264	0.912	0.0000139	3280
Missense in Polyphen		42	64.372	0.65246		779
Synonymous	-0.573	112	105	1.07	0.00000635	1030
Loss of Function	2.77	10	24.9	0.401	0.00000123	295

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000305	0.000305
Ashkenazi Jewish	0.00	0.00
East Asian	0.000114	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000116	0.000114
Middle Eastern	0.000114	0.000109
South Asian	0.000204	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.115

Intolerance Scores

• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• pHI: 0.486
• hipred: N
• hipred_score: 0.322
• ghis: 0.576

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mfsd14b

Gene ontology

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