JADE1

Jade family PHD finger 1 Q6IE81 JADE1_HUMAN
Protein Coding Chr 4 4q28.2 Swiss-Prot reviewed Entrez 79960
Mutations
1,934
CL 228 · Tissue 1,657
Samples
328
CL 73 · Tissue 246
Peptides
267
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
Mutations1,9342281,657
Samples32873246
Peptides26748216

Function

JADE1 · Jade family PHD finger 1

Enables transcription coactivator activity. Involved in histone acetylation and negative regulation of canonical Wnt signaling pathway. Acts upstream of or within negative regulation of G1/S transition of mitotic cell cycle. Located in several cellular components, including ciliary basal body; cytosol; and nuclear speck. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000226319 Q6IE81 349 257
ENST00000512960 Q6IE81 298 237
ENST00000610919 Q6IE81 298 237
ENST00000611140 Q6IE81 298 237
ENST00000452328 Q6IE81-2 294 233
ENST00000511647 Q6IE81-3 199 157
ENST00000413543 Q6IE81-3 198 156

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q28.2
Entrez ID
Aliases
PHF17

Recurrent Mutations

All 257 amino-acid changes on canonical ENST00000226319 · 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 JADE1 · 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 JADE1 – 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%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
5/42 12%
18/612 3%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Colorectal Carcinoma
16/143 11%
49/3239 2%
Melanoma
2/210 1%
29/1899 2%
Cervical Carcinoma
0/35 0%
6/422 1%
Plasma Cell Myeloma
3/44 7%
1/305 0%
Gastric Carcinoma
0/74 0%
19/1809 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Neuroendocrine Tumour
2/154 1%
4/577 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Other Sarcomas
1/69 1%
5/699 1%
Non-Small Cell Lung Carcinoma
2/304 1%
11/1390 1%
Other Solid Cancers
1/94 1%
10/1515 1%
Squamous Cell Lung Carcinoma
3/57 5%
2/810 0%
Thyroid Gland Carcinoma
0/45 0%
9/1592 1%
Head and Neck Carcinoma
2/85 2%
7/1574 0%
Non-Cancerous
1/104 1%
4/830 0%
Hepatocellular Carcinoma
0/46 0%
12/2210 1%
Glioma
0/52 0%
11/2127 1%
Prostate Carcinoma
2/13 15%
8/2105 0%
Medulloblastoma
0/0 0%
2/450 0%
Breast Carcinoma
1/144 1%
13/3264 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Ovarian Carcinoma
3/109 3%
1/998 0%
B-Cell Non-Hodgkins Lymphoma
5/88 6%
3/2534 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%

Mutation Distribution

Where JADE1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in JADE1 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 1,934 mutations in JADE1

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