MFSD14CP

major facilitator superfamily domain containing 14C, pseudogene

Basic information

Region (hg38): 9:96949555-97013366

Previous symbols: [ "HIATL2", "MFSD14C" ]

Links

ENSG00000196312 ∙ NCBI:84278 ∙ ∙ HGNC:23672 ∙ Uniprot:Q5VZR4 ∙ 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 MFSD14CP gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD14CP 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	0	1	0

Variants in MFSD14CP

This is a list of pathogenic ClinVar variants found in the MFSD14CP region.

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

Position	Type	Phenotype	Significance	ClinVar
9-96949617-G-A			Likely benign (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFSD14CP	protein_coding	protein_coding	ENST00000602917	5	115515

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0962	0.781	125733	0	13	125746	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.689	68	53.8	1.26	0.00000251	957
Missense in Polyphen		34	27.241	1.2481		381
Synonymous	-0.681	24	20.1	1.19	0.00000103	300
Loss of Function	1.18	2	4.77	0.419	2.03e-7	78

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000191	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000371	0.0000352
Middle Eastern	0.000112	0.000109
South Asian	0.000102	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.216
• hipred: N
• hipred_score: 0.164
• ghis: 0.508

Gene ontology

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