SH3GLB1

SH3 domain containing GRB2 like, endophilin B1 Q9Y371 SHLB1_HUMAN
Protein Coding Chr 1 1p22.3 Swiss-Prot reviewed Entrez 51100
Mutations
469
CL 51 · Tissue 411
Samples
131
CL 17 · Tissue 110
Peptides
122
unique mutant peptides
Transcripts
4
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
Mutations46951411
Samples13117110
Peptides12214106

Function

SH3GLB1 · SH3 domain containing GRB2 like, endophilin B1

This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011].

Isoforms & Proteins

4 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
ENST00000370558 Q9Y371 125 96
ENST00000616170 A0A087WW40* 125 101
ENST00000482504 Q9Y371-2 122 98
ENST00000535010 Q9Y371-3 97 76

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p22.3
Entrez ID
Aliases
Bif-1CGI-61PPP1R70dJ612B15.2

Recurrent Mutations

All 96 amino-acid changes on canonical ENST00000370558 · 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 SH3GLB1 · 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 SH3GLB1 – 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
2/40 5%
0/0 0%
Endometrial Carcinoma
0/42 0%
15/612 2%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Squamous Cell Lung Carcinoma
2/57 4%
5/810 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Melanoma
1/210 0%
12/1899 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Colorectal Carcinoma
6/143 4%
14/3239 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Mesothelioma
1/62 2%
0/165 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Other Solid Cancers
0/94 0%
6/1515 0%
Gastric Carcinoma
2/74 3%
5/1809 0%
Non-Small Cell Lung Carcinoma
0/304 0%
6/1390 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Glioma
0/52 0%
6/2127 0%
Prostate Carcinoma
1/13 8%
5/2105 0%
Wilms Tumour
0/5 0%
1/474 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Sarcomas
0/69 0%
1/699 0%
Head and Neck Carcinoma
0/85 0%
2/1574 0%
Non-Cancerous
0/104 0%
1/830 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
1/2534 0%
Breast Carcinoma
0/144 0%
2/3264 0%

Mutation Distribution

Where SH3GLB1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SH3GLB1 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 469 mutations in SH3GLB1

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