DYNC2I2

Dynein 2 intermediate chain 2 Q96EX3 DC2I2_HUMAN
Protein Coding Chr 9 9q34.11 Swiss-Prot reviewed Entrez 89891
Mutations
36
CL 25 · Tissue 0
Samples
27
CL 23 · Tissue 0
Peptides
36
unique mutant peptides
Transcripts
1
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
Mutations36250
Samples27230
Peptides36250

Function

DYNC2I2 · Dynein 2 intermediate chain 2

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014].

Isoforms & Proteins

1 transcript · 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
ENST00000372715 Q96EX3 36 36

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q34.11
Entrez ID
Aliases
CFAP133DIC5FAP133SRTD11WDR34bA216B9.3

Recurrent Mutations

All 36 amino-acid changes on canonical ENST00000372715 · 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 DYNC2I2 · 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 DYNC2I2 – 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%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Endometrial Carcinoma
4/42 10%
1/612 0%
Mesothelioma
1/62 2%
0/165 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Squamous Cell Lung Carcinoma
2/57 4%
0/810 0%
Gastric Carcinoma
2/74 3%
1/1809 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Head and Neck Carcinoma
2/85 2%
0/1574 0%
Ovarian Carcinoma
1/109 1%
0/998 0%
Colorectal Carcinoma
1/143 1%
1/3239 0%
Pancreatic Carcinoma
1/89 1%
0/1611 0%
Non-Small Cell Lung Carcinoma
1/304 0%
0/1390 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
0/2550 0%
Other Blood Cancers
1/61 2%
0/2725 0%
Breast Carcinoma
0/144 0%
1/3264 0%

Mutation Distribution

Where DYNC2I2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DYNC2I2 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.

Mutations

All 36 mutations in DYNC2I2

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