MFSD8 Major facilitator superfamily domain containing 8 Q8NHS3 MFSD8_HUMAN
Protein Coding Chr 4 4q28.2 Swiss-Prot reviewed Entrez 256471
Mutations
2,689
CL 198 · Tissue 2,395
Samples
210
CL 31 · Tissue 171
Peptides
239
unique mutant peptides
Transcripts
19
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations2,6891982,395
Samples21031171
Peptides23934206

Function

MFSD8 · Major facilitator superfamily domain containing 8

This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008].

Isoforms & Proteins

19 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000641686 Q8NHS3 221 165
ENST00000296468 Q8NHS3 199 159
ENST00000641186 A0A286YFI8* 183 145
ENST00000641178 A0A286YF45* 181 142
ENST00000641690 A0A286YEW8* 181 145
ENST00000642042 A0A286YFF5* 180 142
ENST00000513559 E7ERQ4* 167 131
ENST00000641509 A0A286YFF1* 165 131
ENST00000641147 A0A286YFB5* 147 114
ENST00000641393 A0A286YFB5* 147 114
ENST00000641482 A0A286YF73* 126 105
ENST00000641743 A0A286YF51* 115 95
ENST00000641590 A0A286YF72* 110 91
ENST00000641228 A0A286YFM2* 108 91
ENST00000641503 A0A286YFH3* 99 81
ENST00000641695 A0A286YFE7* 98 81
ENST00000641949 A0A286YEV4* 96 81
ENST00000641243 A0A286YFC6* 92 77
ENST00000641134 A0A286YF20* 74 60

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q28.2
Entrez ID
256471
Aliases
CCMDCLN7SLC74A1

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation Distribution

Where MFSD8 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MFSD8 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 2,689 mutations in MFSD8

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourcePeptide