AIF1L

Allograft inflammatory factor 1 like Q9BQI0 AIF1L_HUMAN
Protein Coding Chr 9 9q34.12-q34.13 Swiss-Prot reviewed Entrez 83543
Mutations
241
CL 63 · Tissue 177
Samples
65
CL 22 · Tissue 42
Peptides
77
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
Mutations24163177
Samples652242
Peptides772256

Function

AIF1L · Allograft inflammatory factor 1 like

Enables actin filament binding activity. Predicted to be involved in actin filament bundle assembly and ruffle assembly. Located in actin cytoskeleton and focal adhesion. Colocalizes with actin filament. Biomarker of breast cancer. [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
ENST00000247291 Q9BQI0 55 45
ENST00000372309 Q9BQI0-2 52 43
ENST00000372302 Q9BQI0-3 37 36
ENST00000372300 Q9BQI0-4 30 29
ENST00000372298 Q5JUP3* 27 26
ENST00000372301 A6PVM9* 25 25
ENST00000372297 Q5JUP1* 15 15

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q34.12-q34.13
Entrez ID
Aliases
C9orf58IBA2

Recurrent Mutations

All 45 amino-acid changes on canonical ENST00000247291 · 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 AIF1L · 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 AIF1L – 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
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
2/45 4%
0/166 0%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Endometrial Carcinoma
0/42 0%
3/612 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Other Sarcomas
1/69 1%
1/699 0%
Colorectal Carcinoma
3/143 2%
5/3239 0%
Non-Small Cell Lung Carcinoma
2/304 1%
2/1390 0%
Squamous Cell Lung Carcinoma
2/57 4%
0/810 0%
Melanoma
0/210 0%
4/1899 0%
Head and Neck Carcinoma
1/85 1%
2/1574 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
2/2550 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Other Solid Cancers
0/94 0%
2/1515 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Breast Carcinoma
0/144 0%
4/3264 0%
Gastric Carcinoma
0/74 0%
2/1809 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Prostate Carcinoma
1/13 8%
1/2105 0%
Ovarian Carcinoma
1/109 1%
0/998 0%
Other Blood Cancers
2/61 3%
0/2725 0%
B-Lymphoblastic Leukemia
1/55 2%
1/2640 0%

Mutation Distribution

Where AIF1L is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in AIF1L 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 241 mutations in AIF1L

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