BLTP3B

Bridge-like lipid transfer protein family member 3B A0JNW5 BLT3B_HUMAN
Protein Coding Chr 12 12q23.1 Swiss-Prot reviewed Entrez 23074
Mutations
112
CL 82 · Tissue 0
Samples
81
CL 70 · Tissue 0
Peptides
104
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
Mutations112820
Samples81700
Peptides104750

Function

BLTP3B · Bridge-like lipid transfer protein family member 3B

Enables GARP complex binding activity and protein homodimerization activity. Located in cytosol and early endosome. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000279907 A0JNW5 111 104
ENST00000547428 F8VRN3* 1 1

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q23.1
Entrez ID
Aliases
SHIP164SHIP164AUHRF1BP1L

Recurrent Mutations

All 104 amino-acid changes on canonical ENST00000279907 · 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 BLTP3B · 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 BLTP3B – 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
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
7/42 17%
1/612 0%
Glioblastoma
1/98 1%
0/0 0%
Burkitts Lymphoma
2/32 6%
0/196 0%
Adrenocortical Carcinoma
1/3 33%
0/112 0%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Melanoma
11/210 5%
1/1899 0%
Osteosarcoma
1/45 2%
0/166 0%
Colorectal Carcinoma
13/143 9%
3/3239 0%
Non-Small Cell Lung Carcinoma
5/304 2%
1/1390 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Other Sarcomas
2/69 3%
0/699 0%
Squamous Cell Lung Carcinoma
2/57 4%
0/810 0%
Cervical Carcinoma
1/35 3%
0/422 0%
Head and Neck Carcinoma
2/85 2%
1/1574 0%
Ovarian Carcinoma
2/109 2%
0/998 0%
Breast Carcinoma
4/144 3%
1/3264 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Gastric Carcinoma
1/74 1%
1/1809 0%
Non-Cancerous
1/104 1%
0/830 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Kidney Carcinoma
1/85 1%
1/1862 0%
Glioma
2/52 4%
0/2127 0%
Neuroblastoma
1/87 1%
0/1331 0%
Thyroid Gland Carcinoma
1/45 2%
0/1592 0%
Pancreatic Carcinoma
1/89 1%
0/1611 0%
Other Blood Cancers
1/61 2%
0/2725 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
0/2550 0%

Mutation Distribution

Where BLTP3B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in BLTP3B 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 112 mutations in BLTP3B

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