RAB5IF

RAB5 interacting factor Q9BUV8 RCAF1_HUMAN
Protein Coding Chr 20 20q11.23 Swiss-Prot reviewed Entrez 55969
Mutations
101
CL 14 · Tissue 72
Samples
59
CL 9 · Tissue 43
Peptides
51
unique mutant peptides
Transcripts
3
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
Mutations1011472
Samples59943
Peptides511034

Function

RAB5IF · RAB5 interacting factor

Involved in mitochondrial respirasome assembly. Located in mitochondrial respirasome. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

3 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
ENST00000342422 Q9BUV8-5 36 25
ENST00000344795 Q9BUV8-2 35 25
ENST00000373852 Q9BUV8 30 23

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q11.23
Entrez ID
Aliases
C20orf24CFSMR2OPTIPNAS-11RCAF1RIP5

Recurrent Mutations

All 25 amino-acid changes on canonical ENST00000342422 · 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 RAB5IF · 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 RAB5IF – 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
3/40 8%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Cervical Carcinoma
2/35 6%
0/422 0%
Melanoma
1/210 0%
6/1899 0%
Endometrial Carcinoma
0/42 0%
2/612 0%
Colorectal Carcinoma
1/143 1%
9/3239 0%
Other Sarcomas
0/69 0%
2/699 0%
Prostate Carcinoma
0/13 0%
5/2105 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Gastric Carcinoma
1/74 1%
2/1809 0%
Glioma
0/52 0%
3/2127 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Other Solid Cancers
0/94 0%
2/1515 0%
Head and Neck Carcinoma
0/85 0%
2/1574 0%
Non-Small Cell Lung Carcinoma
0/304 0%
2/1390 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Non-Cancerous
0/104 0%
1/830 0%
Breast Carcinoma
0/144 0%
3/3264 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Other Blood Cancers
0/61 0%
1/2725 0%

Mutation Distribution

Where RAB5IF is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in RAB5IF 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 101 mutations in RAB5IF

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