NIT1

Nitrilase 1 Q86X76 NIT1_HUMAN
Protein Coding Chr 1 1q23.3 Swiss-Prot reviewed Entrez 4817
Mutations
438
CL 84 · Tissue 349
Samples
140
CL 36 · Tissue 102
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
Mutations43884349
Samples14036102
Peptides1222798

Function

NIT1 · Nitrilase 1

This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].

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
ENST00000368009 Q86X76 135 102
ENST00000368007 Q86X76-4 117 96
ENST00000392190 Q86X76-2 106 91
ENST00000368008 Q86X76-5 80 66

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q23.3
Entrez ID
Aliases
BSVD4

Recurrent Mutations

All 102 amino-acid changes on canonical ENST00000368009 · 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 NIT1 · 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 NIT1 – 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%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
5/42 12%
12/612 2%
Chondrosarcoma
1/14 7%
0/75 0%
Germ Cell Tumour
1/25 4%
1/169 1%
Neuroendocrine Tumour
2/154 1%
3/577 1%
Non-Small Cell Lung Carcinoma
3/304 1%
8/1390 1%
Ovarian Carcinoma
7/109 6%
0/998 0%
Colorectal Carcinoma
7/143 5%
14/3239 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Squamous Cell Lung Carcinoma
1/57 2%
3/810 0%
Cervical Carcinoma
1/35 3%
1/422 0%
Melanoma
0/210 0%
8/1899 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
Other Blood Cancers
1/61 2%
8/2725 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Other Sarcomas
0/69 0%
2/699 0%
Kidney Carcinoma
1/85 1%
4/1862 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Non-Cancerous
0/104 0%
2/830 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
2/2550 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Head and Neck Carcinoma
0/85 0%
2/1574 0%
Breast Carcinoma
1/144 1%
3/3264 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Other Solid Cancers
0/94 0%
2/1515 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Glioma
0/52 0%
2/2127 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

Where NIT1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in NIT1 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 438 mutations in NIT1

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