SVEP1

Sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 Q4LDE5 SVEP1_HUMAN
Protein Coding Chr 9 9q31.3 Swiss-Prot reviewed Entrez 79987
Mutations
3,047
CL 527 · Tissue 2,467
Samples
1,960
CL 373 · Tissue 1,558
Peptides
1,685
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
Mutations3,0475272,467
Samples1,9603731,558
Peptides1,6852891,432

Function

SVEP1 · Sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

Predicted to enable calcium ion binding activity and chromatin binding activity. Predicted to be involved in epidermis development and lymph vessel morphogenesis. Predicted to act upstream of or within several processes, including Tie signaling pathway; lymph circulation; and lymph vessel development. Located in cytoplasm and nucleus. [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
ENST00000374469 Q4LDE5 2,524 1,679
ENST00000374461 Q4LDE5-2 523 375

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q31.3
Entrez ID
Aliases
C9orf13CCP22POLYDOMSEL-OBSELOB

Recurrent Mutations

All 1679 amino-acid changes on canonical ENST00000374469 · 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 SVEP1 · 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 SVEP1 – 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
10/40 25%
0/0 0%
Oral Cavity Carcinoma
12/54 22%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
4/26 15%
0/0 0%
Melanoma
43/210 20%
269/1899 14%
Endometrial Carcinoma
12/42 29%
65/612 11%
Non-Small Cell Lung Carcinoma
47/304 15%
118/1390 8%
Other Solid Cancers
15/94 16%
140/1515 9%
Acute Monocytic Leukemia
0/1 0%
2/25 8%
Gastrointestinal Stromal Tumour
0/0 0%
10/133 8%
Colorectal Carcinoma
31/143 22%
174/3239 5%
Squamous Cell Lung Carcinoma
8/57 14%
44/810 5%
Gastric Carcinoma
6/74 8%
105/1809 6%
Neuroendocrine Tumour
24/154 16%
16/577 3%
Glioblastoma
5/98 5%
0/0 0%
Cervical Carcinoma
8/35 23%
15/422 4%
Hodgkins Lymphoma
2/16 12%
4/122 3%
Bladder Carcinoma
6/58 10%
38/956 4%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Small Cell Lung Carcinoma
0/9 0%
29/752 4%
Plasma Cell Myeloma
8/44 18%
5/305 2%
Esophageal Squamous Cell Carcinoma
12/51 24%
65/2550 3%
Rhabdomyosarcoma
6/33 18%
0/171 0%
Head and Neck Carcinoma
4/85 5%
41/1574 3%
Hepatocellular Carcinoma
2/46 4%
59/2210 3%
Ovarian Carcinoma
9/109 8%
19/998 2%
Esophageal Carcinoma
0/23 0%
19/769 2%
Osteosarcoma
4/45 9%
1/166 1%
Breast Carcinoma
21/144 15%
59/3264 2%
Other Sarcomas
4/69 6%
14/699 2%
Biliary Tract Carcinoma
3/54 6%
20/950 2%

Mutation Distribution

Where SVEP1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SVEP1 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 3,047 mutations in SVEP1

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