CC2D1B

Coiled-coil and C2 domain containing 1B Q5T0F9 C2D1B_HUMAN
Protein Coding Chr 1 1p32.3 Swiss-Prot reviewed Entrez 200014
Mutations
665
CL 111 · Tissue 544
Samples
333
CL 68 · Tissue 259
Peptides
288
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
Mutations665111544
Samples33368259
Peptides28851245

Function

CC2D1B · Coiled-coil and C2 domain containing 1B

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [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
ENST00000284376 Q5T0F9-2 349 273
ENST00000371586 Q5T0F9 316 257

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p32.3
Entrez ID
Aliases
Lgd1

Recurrent Mutations

All 273 amino-acid changes on canonical ENST00000284376 · 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 CC2D1B · 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 CC2D1B – 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-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
7/42 17%
16/612 3%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Burkitts Lymphoma
0/32 0%
4/196 2%
Colorectal Carcinoma
9/143 6%
48/3239 1%
Non-Small Cell Lung Carcinoma
15/304 5%
12/1390 1%
Melanoma
4/210 2%
28/1899 1%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Bladder Carcinoma
2/58 3%
12/956 1%
Glioblastoma
1/98 1%
0/0 0%
Squamous Cell Lung Carcinoma
1/57 2%
7/810 1%
Ewings Sarcoma
1/63 2%
2/262 1%
Gastric Carcinoma
1/74 1%
16/1809 1%
Ovarian Carcinoma
2/109 2%
8/998 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Neuroendocrine Tumour
4/154 3%
2/577 0%
Biliary Tract Carcinoma
0/54 0%
7/950 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Esophageal Carcinoma
1/23 4%
4/769 1%
Other Solid Cancers
2/94 2%
7/1515 0%
Head and Neck Carcinoma
2/85 2%
7/1574 0%
Other Sarcomas
1/69 1%
3/699 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Osteosarcoma
1/45 2%
0/166 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
12/2550 0%
Mesothelioma
1/62 2%
0/165 0%

Mutation Distribution

Where CC2D1B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CC2D1B 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 665 mutations in CC2D1B

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