APCDD1

APC down-regulated 1 Q8J025 APCD1_HUMAN
Protein Coding Chr 18 18p11.22 Swiss-Prot reviewed Entrez 147495
Mutations
432
CL 90 · Tissue 335
Samples
325
CL 82 · Tissue 240
Peptides
251
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
Mutations43290335
Samples32582240
Peptides25159196

Function

APCDD1 · APC down-regulated 1

This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010].

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
ENST00000355285 Q8J025 339 234
ENST00000578882 J3KTQ6* 93 70

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18p11.22
Entrez ID
Aliases
B7323DRAPC1FP7019HHSHTSHYPT1

Recurrent Mutations

All 234 amino-acid changes on canonical ENST00000355285 · 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 APCDD1 · 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 APCDD1 – 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
5/40 12%
0/0 0%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
4/42 10%
18/612 3%
Unknown
0/10 0%
1/29 3%
Rhabdomyosarcoma
5/33 15%
0/171 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Hodgkins Lymphoma
1/16 6%
1/122 1%
Gastric Carcinoma
1/74 1%
26/1809 1%
Colorectal Carcinoma
9/143 6%
39/3239 1%
Melanoma
2/210 1%
25/1899 1%
Other Sarcomas
3/69 4%
6/699 1%
Neuroendocrine Tumour
6/154 4%
2/577 0%
Bladder Carcinoma
3/58 5%
8/956 1%
Glioblastoma
1/98 1%
0/0 0%
Other Solid Cancers
2/94 2%
14/1515 1%
Non-Small Cell Lung Carcinoma
7/304 2%
6/1390 0%
Esophageal Carcinoma
1/23 4%
5/769 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Thyroid Gland Carcinoma
0/45 0%
9/1592 1%
Esophageal Squamous Cell Carcinoma
3/51 6%
10/2550 0%
Pancreatic Carcinoma
2/89 2%
6/1611 0%
Glioma
2/52 4%
8/2127 0%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%

Mutation Distribution

Where APCDD1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in APCDD1 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 432 mutations in APCDD1

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