SCFD2

Sec1 family domain containing 2 Q8WU76 SCFD2_HUMAN
Protein Coding Chr 4 4q12 Swiss-Prot reviewed Entrez 152579
Mutations
645
CL 100 · Tissue 538
Samples
331
CL 67 · Tissue 261
Peptides
270
unique mutant peptides
Transcripts
2
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
Mutations645100538
Samples33167261
Peptides27044225

Function

SCFD2 · Sec1 family domain containing 2

Predicted to enable syntaxin binding activity. Predicted to be involved in intracellular protein transport and vesicle docking involved in exocytosis. Predicted to be active in plasma membrane and secretory granule. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

2 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
ENST00000401642 Q8WU76 357 256
ENST00000388940 Q8WU76-2 288 219

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q12
Entrez ID
Aliases
STXBP1L1

Recurrent Mutations

All 256 amino-acid changes on canonical ENST00000401642 · 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 SCFD2 · 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 SCFD2 – 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%
Endometrial Carcinoma
2/42 5%
20/612 3%
Cervical Carcinoma
2/35 6%
8/422 2%
Non-Small Cell Lung Carcinoma
12/304 4%
21/1390 2%
Melanoma
7/210 3%
32/1899 2%
Colorectal Carcinoma
11/143 8%
38/3239 1%
Burkitts Lymphoma
0/32 0%
3/196 2%
Other Solid Cancers
0/94 0%
21/1515 1%
Bladder Carcinoma
4/58 7%
7/956 1%
Small Cell Lung Carcinoma
0/9 0%
8/752 1%
Osteosarcoma
1/45 2%
1/166 1%
Squamous Cell Lung Carcinoma
3/57 5%
5/810 1%
Ovarian Carcinoma
6/109 6%
3/998 0%
Gastric Carcinoma
1/74 1%
14/1809 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Esophageal Carcinoma
0/23 0%
5/769 1%
Hepatocellular Carcinoma
0/46 0%
14/2210 1%
Other Sarcomas
1/69 1%
3/699 0%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Head and Neck Carcinoma
2/85 2%
6/1574 0%
Medulloblastoma
0/0 0%
2/450 0%
Mesothelioma
1/62 2%
0/165 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
8/2550 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Glioma
2/52 4%
6/2127 0%
Prostate Carcinoma
0/13 0%
7/2105 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Kidney Carcinoma
0/85 0%
5/1862 0%
Pancreatic Carcinoma
2/89 2%
2/1611 0%

Mutation Distribution

Where SCFD2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SCFD2 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 645 mutations in SCFD2

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