ZNF384

Zinc finger protein 384 Q8TF68 ZN384_HUMAN
Protein Coding Chr 12 12p13.31 Swiss-Prot reviewed Entrez 171017
Mutations
794
CL 75 · Tissue 663
Samples
214
CL 36 · Tissue 171
Peptides
192
unique mutant peptides
Transcripts
5
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
Mutations79475663
Samples21436171
Peptides19226158

Function

ZNF384 · Zinc finger protein 384

This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011].

Isoforms & Proteins

5 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
ENST00000361959 Q8TF68 211 172
ENST00000396801 Q8TF68 209 170
ENST00000319770 Q8TF68-2 184 150
ENST00000355772 Q8TF68-3 162 133
ENST00000683879 A0A804HJE2* 28 25

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p13.31
Entrez ID
Aliases
CAGH1CAGH1ACIZERDA2NMP4NP

Recurrent Mutations

All 172 amino-acid changes on canonical ENST00000361959 · 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 ZNF384 · 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 ZNF384 – 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
4/40 10%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
4/42 10%
6/612 1%
Melanoma
3/210 1%
23/1899 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Colorectal Carcinoma
10/143 7%
27/3239 1%
Other Solid Cancers
0/94 0%
15/1515 1%
Gastric Carcinoma
1/74 1%
16/1809 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Squamous Cell Lung Carcinoma
0/57 0%
6/810 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Head and Neck Carcinoma
0/85 0%
10/1574 1%
Bladder Carcinoma
1/58 2%
5/956 1%
Non-Small Cell Lung Carcinoma
3/304 1%
6/1390 0%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Non-Cancerous
2/104 2%
1/830 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Glioma
0/52 0%
6/2127 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
7/2550 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Breast Carcinoma
0/144 0%
8/3264 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
Thyroid Gland Carcinoma
1/45 2%
2/1592 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
4/2534 0%
Other Blood Cancers
0/61 0%
4/2725 0%
Neuroblastoma
0/87 0%
2/1331 0%

Mutation Distribution

Where ZNF384 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ZNF384 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 794 mutations in ZNF384

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