SERPING1

Serpin family G member 1 P05155 IC1_HUMAN
Protein Coding Chr 11 11q12.1 Swiss-Prot reviewed Entrez 710
Mutations
1,315
CL 145 · Tissue 1,160
Samples
281
CL 53 · Tissue 223
Peptides
243
unique mutant peptides
Transcripts
7
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
Mutations1,3151451,160
Samples28153223
Peptides24340204

Function

SERPING1 · Serpin family G member 1

This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020].

Isoforms & Proteins

7 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
ENST00000278407 P05155 286 192
ENST00000403558 E9PGN7* 259 188
ENST00000378323 P05155-3 253 183
ENST00000340687 H9KV48* 238 173
ENST00000378324 P05155-2 212 156
ENST00000619430 A0A087WUD9* 66 46
ENST00000405496 B5MCB9* 1 1

Gene Properties

Type
Protein Coding
Chromosome
11
Cytoband
11q12.1
Entrez ID
Aliases
C1INC1INHC1NHHAE1HAE2

Recurrent Mutations

All 192 amino-acid changes on canonical ENST00000278407 · 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 SERPING1 · 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 SERPING1 – 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
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Hodgkins Lymphoma
3/16 19%
0/122 0%
Endometrial Carcinoma
0/42 0%
12/612 2%
Melanoma
9/210 4%
29/1899 2%
Colorectal Carcinoma
6/143 4%
42/3239 1%
Squamous Cell Lung Carcinoma
4/57 7%
8/810 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Germ Cell Tumour
0/25 0%
2/169 1%
Non-Small Cell Lung Carcinoma
2/304 1%
15/1390 1%
Glioma
2/52 4%
16/2127 1%
Other Solid Cancers
0/94 0%
13/1515 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Gastric Carcinoma
0/74 0%
14/1809 1%
Biliary Tract Carcinoma
3/54 6%
4/950 0%
Cervical Carcinoma
1/35 3%
2/422 0%
Non-Cancerous
0/104 0%
6/830 1%
Bladder Carcinoma
0/58 0%
6/956 1%
Hepatocellular Carcinoma
0/46 0%
13/2210 1%
Burkitts Lymphoma
0/32 0%
1/196 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Head and Neck Carcinoma
2/85 2%
4/1574 0%
Other Sarcomas
0/69 0%
2/699 0%
Kidney Carcinoma
2/85 2%
3/1862 0%
Prostate Carcinoma
3/13 23%
2/2105 0%
Medulloblastoma
0/0 0%
1/450 0%
B-Lymphoblastic Leukemia
5/55 9%
0/2640 0%
Pancreatic Carcinoma
1/89 1%
2/1611 0%
Ovarian Carcinoma
1/109 1%
1/998 0%

Mutation Distribution

Where SERPING1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SERPING1 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 1,315 mutations in SERPING1

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