DNAH12

Dynein axonemal heavy chain 12 Q6ZR08 DYH12_HUMAN
Protein Coding Chr 3 3p14.3 Swiss-Prot reviewed Entrez 201625
Mutations
2,822
CL 378 · Tissue 2,413
Samples
936
CL 199 · Tissue 724
Peptides
919
unique mutant peptides
Transcripts
4
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
Mutations2,8223782,413
Samples936199724
Peptides919168758

Function

DNAH12 · Dynein axonemal heavy chain 12

Predicted to enable several functions, including ATP binding activity; dynein intermediate chain binding activity; and dynein light intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in cilium; cytoplasm; and microtubule. Predicted to be part of dynein complex. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

4 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
ENST00000495027 E9PG32* 1,187 867
ENST00000351747 Q6ZR08 1,057 797
ENST00000389536 J3QTM1* 355 266
ENST00000311202 Q6ZR08-4 223 173

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p14.3
Entrez ID
Aliases
DHC3DLP12DLP3DNAH12LDNAH7LDNAHC12

Recurrent Mutations

All 797 amino-acid changes on canonical ENST00000351747 · 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 DNAH12 · 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 DNAH12 – 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
6/40 15%
0/0 0%
Endometrial Carcinoma
13/42 31%
46/612 8%
T-Cell Non-Hodgkins Lymphoma
2/26 8%
0/0 0%
Melanoma
26/210 12%
129/1899 7%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Colorectal Carcinoma
17/143 12%
87/3239 3%
Non-Small Cell Lung Carcinoma
25/304 8%
26/1390 2%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Biliary Tract Carcinoma
1/54 2%
24/950 3%
Hepatocellular Carcinoma
2/46 4%
50/2210 2%
Esophageal Carcinoma
0/23 0%
18/769 2%
Other Solid Cancers
6/94 6%
30/1515 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Thyroid Gland Carcinoma
1/45 2%
35/1592 2%
Hodgkins Lymphoma
2/16 12%
1/122 1%
Neuroendocrine Tumour
8/154 5%
7/577 1%
Glioblastoma
2/98 2%
0/0 0%
Cervical Carcinoma
0/35 0%
9/422 2%
Gastric Carcinoma
8/74 11%
28/1809 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Bladder Carcinoma
4/58 7%
14/956 1%
Mesothelioma
1/62 2%
3/165 2%
Retinoblastoma
1/27 4%
0/30 0%
Adrenocortical Carcinoma
0/3 0%
2/112 2%
Plasma Cell Myeloma
6/44 14%
0/305 0%
Ovarian Carcinoma
9/109 8%
9/998 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
39/2550 2%
Germ Cell Tumour
1/25 4%
2/169 1%
Squamous Cell Lung Carcinoma
4/57 7%
8/810 1%

Mutation Distribution

Where DNAH12 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DNAH12 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 2,822 mutations in DNAH12

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