Cancer Cell Metabolism Gene Database

  Cancer Cell Metabolism Gene DB

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Phenotypic Information (metabolism pathway, cancer, disease, phenome)

Mutations: SVs, CNVs, SNVs

Gene expression: GE, Protein, DEGE, CNV vs GE

Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG

Pharmacological Information: Drug-Gene Network

Cross referenced IDs

Gene Summary for NPL
Basic gene info.Gene symbolNPL
Gene nameN-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
SynonymsC112|C1orf13|NAL|NPL1
CytomapUCSC genome browser: 1q25
Genomic locationchr1 :182758583-182799519
Type of geneprotein-coding
RefGenesNM_001200050.1,
NM_001200051.1,NM_001200052.1,NM_001200056.1,NM_030769.2,
Ensembl idENSG00000135838
DescriptionN-acetylneuraminate lyaseN-acetylneuraminic acid aldolaseNALasedihydrodipicolinate synthetase homolog 1sialate-pyruvate lyasesialic acid aldolase
Modification date20141207
dbXrefs MIM : 611412
HGNC : HGNC
Ensembl : ENSG00000135838
HPRD : 14836
Vega : OTTHUMG00000035321
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NPL
BioGPS: 80896
Gene Expression Atlas: ENSG00000135838
The Human Protein Atlas: ENSG00000135838
PathwayNCI Pathway Interaction Database: NPL
KEGG: NPL
REACTOME: NPL
ConsensusPathDB
Pathway Commons: NPL
MetabolismMetaCyc: NPL
HUMANCyc: NPL
RegulationEnsembl's Regulation: ENSG00000135838
miRBase: chr1 :182,758,583-182,799,519
TargetScan: NM_001200050
cisRED: ENSG00000135838
ContextiHOP: NPL
cancer metabolism search in PubMed: NPL
UCL Cancer Institute: NPL
Assigned class in ccmGDBC

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Phenotypic Information for NPL(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: NPL
Familial Cancer Database: NPL
* This gene is included in those cancer gene databases.

.

Oncogene 1

Tumor Suppressor gene 2

Cancer Gene Census 3

CancerGenes 4

Network of Cancer Gene 5

Significant driver gene in

Therapeutic Vulnerabilities in Cancer1

cf) number; DB name
1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long,
2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/,
3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html,
4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long,
5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php,
1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/

check002.gifMetabolic Pathway Description
KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM

check002.gifOthers
OMIM
Orphanet
DiseaseKEGG Disease: NPL
MedGen: NPL (Human Medical Genetics with Condition)
ClinVar: NPL
PhenotypeMGI: NPL (International Mouse Phenotyping Consortium)
PhenomicDB: NPL

Mutations for NPL
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site.

check002.gifStructural Variants in COSMIC: go to COSMIC mutation histogram

- Statistics for Tissue and Mutation typeTop
- For Inter-chromosomal Variations
There's no inter-chromosomal structural variation.
- For Intra-chromosomal Variations
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'.
SampleSymbol_aChr_aStart_aEnd_aSymbol_bChr_bStart_bEnd_b
breastNPLchr1182790677182790677chr1182865383182865383
ovaryNPLchr1182776068182776088chr1182704606182704626
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract)

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows NPL related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a
BU181747CERS51214125056088450561097NPL2148561182791249182799251

check002.gifOther DBs for Structural Variants
Structural Variants in Ensembl: go to Ensembl Structural variation
Structural Variants in dbVar: go to dbVar

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check002.gifCopy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr
 
Mutation type/ Tissue IDbrcacnscervendomehaematopokidnLintestliverlungnsovarypancreprostskinstomathyrourina
Total # sample1     1          
GAIN (# sample)                 
LOSS (# sample)1     1          
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract)

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check002.gifSNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation

 : Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=4

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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=27)
Stat. for Synonymous SNVs
(# total SNVs=11)
Stat. for Deletions
(# total SNVs=0)
Stat. for Insertions
(# total SNVs=0)
There's no deleted snv.There's no inserted snv.

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check002.gifTop 10 SNVs Having the Most Samples in COSMIC data
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID.
GRCh37 positionMutation(aa)Unique sampleID count
chr1:182787734-182787734p.L172L3
chr1:182794914-182794914p.?2
chr1:182787787-182787787p.R190H2
chr1:182787806-182787806p.F196F2
chr1:182797964-182797964p.S295N2
chr1:182785915-182785915p.H144R2
chr1:182775362-182775362p.K75N1
chr1:182798041-182798041p.*321E1
chr1:182787764-182787764p.F182F1
chr1:182763534-182763534p.G10S1

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check002.gifSNV Counts per Each Loci in TCGA data

 : non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=3

Point Mutation/ Tissue ID1234567891011121314151617181920
# sample   81    1 421  31 6
# mutation   71    1 421  21 7
nonsynonymous SNV   41    1 42   11 7
synonymous SNV   3         1  1   
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma])

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check002.gifTop 10 SNVs Having the Most Samples in TCGA data
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID.
Genomic PositionMutation(aa)Unique sampleID count
chr1:182787734p.L153L,NPL3
chr1:182787806p.F177F,NPL2
chr1:182783988p.L178I,NPL1
chr1:182794932p.N45N,NPL1
chr1:182772899p.G180V,NPL1
chr1:182787733p.G53R,NPL1
chr1:182797955p.S187R,NPL1
chr1:182775294p.G55A,NPL1
chr1:182797960p.K218E,NPL1
chr1:182775301p.R64C,NPL1

check002.gifOther DBs for Point Mutations
Point Mutation Table of Ensembl: go to Ensembl variation table
Mutation of cBioPortal: go to cBioPortal's Cross-cancer alteration summary

check002.gifCopy Number for NPL in TCGA
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene.
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma]

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Gene Expression for NPL

check002.gifGene Expression in Cancer Cell-lines (CCLE)
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data.

check002.gifDifferential Gene Expression in Primary Tumors (TCGA)
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis.
(t test, adjusted p<0.05 (using Benjamini-Hochberg FDR))
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check002.gifCNV vs Gene Expression Plot
* This plots show the correlation between CNV and gene expression.

: Open all plots for all cancer types


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Gene-Gene Network Information
check002.gifCo-Expressed gene's network Plot
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown.
Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene

: Open all plots for all cancer types

CD300LF,CD4,CD68,CTSS,FCER1G,FGR,HAVCR2,
IFI30,IGSF6,ITGAX,LAIR1,LAPTM5,LILRB3,MS4A4A,
NCF2,NCKAP1L,NLRC4,NPL,PLEK,SIGLEC7,SLC7A7
CCR1,CD68,CD86,CTSB,CTSS,FUCA1,HAVCR2,
IFI30,IGSF6,LAPTM5,LILRB4,LIPA,NLRC4,NPL,
PIK3R5,PILRA,PLEK,PTPRO,SIGLEC7,SIGLEC9,SLC7A7

ADAP2,AIF1,C1orf162,C1QA,C1QB,C1QC,CD33,
CD84,CMKLR1,FCGR1A,FCGR1B,FCGR3A,HAVCR2,LAIR1,
LILRB4,MS4A4A,NCKAP1L,NPL,SIGLEC1,SIGLEC7,TFEC
ADAP2,ATP8B4,C1QA,C1QB,C1QC,C3AR1,CD200R1,
CD33,CD4,FOLR2,GGTA1P,HAVCR2,LAIR1,LILRB4,
LRRC25,MS4A4A,NFAM1,NPL,PILRA,RNASE1,TMEM86A
check002.gifCo-Expressed gene's Protein-protein interaction Network Plot
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown.
Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene

: Open all plots for all cancer types

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check002.gifInteracting Genes (from Pathway Commons)

: Open all interacting genes' information including KEGG pathway for all interacting genes from DAVID

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Pharmacological Information for NPL


There's no related Drug.
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Cross referenced IDs for NPL
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section

: Open all cross reference information



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