ANKHD1-EIF4EBP3

ANKHD1-EIF4EBP3 readthrough Q8IWZ3-6 ANKH1_HUMAN
Protein Coding Chr 5 5q31.3 Swiss-Prot reviewed Entrez 404734
Mutations
880
CL 80 · Tissue 794
Samples
785
CL 69 · Tissue 710
Peptides
742
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
Mutations88080794
Samples78569710
Peptides74276671

Function

ANKHD1-EIF4EBP3 · ANKHD1-EIF4EBP3 readthrough

The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009].

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
ENST00000532219 Q8IWZ3-6 880 742

Gene Properties

Type
Protein Coding
Chromosome
5
Cytoband
5q31.3
Entrez ID
Aliases
MASK-BP3MASK-BP3ARF

Recurrent Mutations

All 742 amino-acid changes on canonical ENST00000532219 · 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 ANKHD1-EIF4EBP3 · 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 ANKHD1-EIF4EBP3 – 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%
Endometrial Carcinoma
3/42 7%
46/612 8%
Melanoma
7/210 3%
90/1899 5%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Bladder Carcinoma
1/58 2%
34/956 4%
Cervical Carcinoma
0/35 0%
14/422 3%
Hodgkins Lymphoma
1/16 6%
3/122 2%
Colorectal Carcinoma
8/143 6%
88/3239 3%
Other Solid Cancers
0/94 0%
43/1515 3%
Non-Small Cell Lung Carcinoma
11/304 4%
34/1390 2%
Squamous Cell Lung Carcinoma
1/57 2%
22/810 3%
Gastric Carcinoma
1/74 1%
39/1809 2%
Germ Cell Tumour
1/25 4%
3/169 2%
Glioblastoma
2/98 2%
0/0 0%
Hepatocellular Carcinoma
0/46 0%
46/2210 2%
Small Cell Lung Carcinoma
0/9 0%
15/752 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
44/2550 2%
Non-Cancerous
1/104 1%
13/830 2%
Prostate Carcinoma
0/13 0%
27/2105 1%
Ovarian Carcinoma
3/109 3%
11/998 1%
Neuroendocrine Tumour
4/154 3%
5/577 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Head and Neck Carcinoma
1/85 1%
17/1574 1%
Other Sarcomas
1/69 1%
7/699 1%
Breast Carcinoma
4/144 3%
30/3264 1%
Esophageal Carcinoma
0/23 0%
7/769 1%
Burkitts Lymphoma
1/32 3%
1/196 1%
Glioma
0/52 0%
18/2127 1%
Biliary Tract Carcinoma
0/54 0%
8/950 1%

Mutation Distribution

Where ANKHD1-EIF4EBP3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ANKHD1-EIF4EBP3 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 880 mutations in ANKHD1-EIF4EBP3

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