MFAP3L

Microfibril associated protein 3 like O75121 MFA3L_HUMAN
Protein Coding Chr 4 4q33 Swiss-Prot reviewed Entrez 9848
Mutations
508
CL 94 · Tissue 407
Samples
245
CL 58 · Tissue 183
Peptides
195
unique mutant peptides
Transcripts
4
isoforms mutated

Stats by Source

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

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

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

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

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

TotalCell lineTissue
Mutations50894407
Samples24558183
Peptides19541156

Function

MFAP3L · Microfibril associated protein 3 like

Located in several cellular components, including cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

4 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
ENST00000361618 O75121 258 186
ENST00000393704 O75121-2 184 141
ENST00000393702 O75121-3 33 29
ENST00000506110 O75121-3 33 29

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q33
Entrez ID
Aliases
NYD-sp9

Recurrent Mutations

All 186 amino-acid changes on canonical ENST00000361618 · needle height = samples · drag the mini-map to zoom

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 frequency across cancer types

% of samples with a missense/complex mutation in MFAP3L · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MFAP3L – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Hodgkins Lymphoma
3/16 19%
0/122 0%
Endometrial Carcinoma
1/42 2%
12/612 2%
Non-Small Cell Lung Carcinoma
10/304 3%
18/1390 1%
Colorectal Carcinoma
10/143 7%
28/3239 1%
Gastric Carcinoma
4/74 5%
16/1809 1%
Germ Cell Tumour
1/25 4%
1/169 1%
Glioblastoma
1/98 1%
0/0 0%
Other Solid Cancers
2/94 2%
14/1515 1%
Squamous Cell Lung Carcinoma
1/57 2%
7/810 1%
Melanoma
4/210 2%
14/1899 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Meningioma
1/3 33%
1/252 0%
Ovarian Carcinoma
4/109 4%
4/998 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Osteosarcoma
0/45 0%
1/166 1%
Pancreatic Carcinoma
1/89 1%
7/1611 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
12/2550 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Kidney Carcinoma
0/85 0%
7/1862 0%
Breast Carcinoma
4/144 3%
8/3264 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Other Sarcomas
0/69 0%
2/699 0%
Glioma
0/52 0%
5/2127 0%
Medulloblastoma
0/0 0%
1/450 0%
Hepatocellular Carcinoma
2/46 4%
3/2210 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
4/2534 0%

Mutation Distribution

Where MFAP3L is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MFAP3L 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 508 mutations in MFAP3L

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 CDSTypeSourceMutant PeptideWild-type Peptide