SH2D3A

SH2 domain containing 3A Q9BRG2 SH23A_HUMAN
Protein Coding Chr 19 19p13.3 Swiss-Prot reviewed Entrez 10045
Mutations
588
CL 77 · Tissue 502
Samples
336
CL 56 · Tissue 274
Peptides
257
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
Mutations58877502
Samples33656274
Peptides25741221

Function

SH2D3A · SH2 domain containing 3A

Predicted to enable guanyl-nucleotide exchange factor activity and phosphotyrosine residue binding activity. Predicted to be involved in positive regulation of peptidyl-serine phosphorylation. [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
ENST00000245908 Q9BRG2 338 230
ENST00000437152 Q9BRG2-2 250 171

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.3
Entrez ID
Aliases
NSP1

Recurrent Mutations

All 230 amino-acid changes on canonical ENST00000245908 · 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 SH2D3A · 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 SH2D3A – 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%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Melanoma
8/210 4%
55/1899 3%
Endometrial Carcinoma
2/42 5%
17/612 3%
Colorectal Carcinoma
12/143 8%
48/3239 1%
Cervical Carcinoma
2/35 6%
5/422 1%
Bladder Carcinoma
0/58 0%
14/956 1%
Other Sarcomas
3/69 4%
5/699 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
5/304 2%
12/1390 1%
Gastric Carcinoma
0/74 0%
17/1809 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Other Solid Cancers
0/94 0%
10/1515 1%
Hepatocellular Carcinoma
1/46 2%
13/2210 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Glioma
0/52 0%
11/2127 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Non-Cancerous
0/104 0%
4/830 0%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
Pancreatic Carcinoma
0/89 0%
7/1611 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
8/2550 0%
Prostate Carcinoma
0/13 0%
8/2105 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
6/2534 0%
Kidney Carcinoma
1/85 1%
5/1862 0%
Breast Carcinoma
4/144 3%
6/3264 0%

Mutation Distribution

Where SH2D3A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SH2D3A 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 588 mutations in SH2D3A

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