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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for NOS1 |
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Phenotypic Information for NOS1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: NOS1 |
Familial Cancer Database: NOS1 |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
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/ |
Metabolic Pathway Description | |
KEGG_ARGININE_AND_PROLINE_METABOLISM |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: NOS1 |
MedGen: NOS1 (Human Medical Genetics with Condition) | |
ClinVar: NOS1 | |
Phenotype | MGI: NOS1 (International Mouse Phenotyping Consortium) |
PhenomicDB: NOS1 |
Mutations for NOS1 |
* 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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- 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'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | NOS1 | chr12 | 117750588 | 117750608 | NOS1 | chr12 | 117747788 | 117747808 |
ovary | NOS1 | chr12 | 117750780 | 117750800 | chr12 | 117803536 | 117803556 | |
pancreas | NOS1 | chr12 | 117728864 | 117728884 | NOS1 | chr12 | 117729498 | 117729518 |
pancreas | NOS1 | chr12 | 117754994 | 117755014 | NOS1 | chr12 | 117755571 | 117755591 |
pancreas | NOS1 | chr12 | 117789990 | 117790010 | chr12 | 128128128 | 128128148 | |
pancreas | NOS1 | chr12 | 117790467 | 117790487 | chr12 | 90845647 | 90845667 | |
pancreas | NOS1 | chr12 | 117790500 | 117790520 | NOS1 | chr12 | 117790951 | 117790971 |
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) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows NOS1 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BF930971 | NOS1 | 14 | 198 | 12 | 117649316 | 117649500 | NFE2L1 | 192 | 444 | 17 | 46134731 | 46135775 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   | 1 |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   | 1 |   |   | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
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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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=202) | (# total SNVs=78) |
(# total SNVs=1) | (# total SNVs=0) |
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Top 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 position | Mutation(aa) | Unique sampleID count |
chr12:117696917-117696917 | p.Y796H | 8 |
chr12:117698325-117698325 | p.S771L | 6 |
chr12:117710315-117710315 | p.V572M | 6 |
chr12:117768733-117768733 | p.R48C | 5 |
chr12:117723955-117723955 | p.R415Q | 4 |
chr12:117672461-117672461 | p.L1048L | 4 |
chr12:117681140-117681140 | p.R975H | 3 |
chr12:117685236-117685236 | p.E914K | 3 |
chr12:117724063-117724063 | p.S379F | 3 |
chr12:117672544-117672544 | p.R1021C | 3 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 5 | 7 |   | 25 | 9 |   | 2 |   | 12 | 2 | 1 | 27 | 13 | 3 | 2 |   | 60 | 23 | 2 | 21 |
# mutation | 5 | 7 |   | 33 | 9 |   | 2 |   | 12 | 2 | 1 | 26 | 13 | 3 | 2 |   | 90 | 27 | 2 | 26 |
nonsynonymous SNV | 4 | 6 |   | 21 | 5 |   | 2 |   | 9 | 1 | 1 | 16 | 9 | 2 | 1 |   | 52 | 17 | 1 | 15 |
synonymous SNV | 1 | 1 |   | 12 | 4 |   |   |   | 3 | 1 |   | 10 | 4 | 1 | 1 |   | 38 | 10 | 1 | 11 |
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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Top 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 Position | Mutation(aa) | Unique sampleID count |
chr12:117723955 | p.E578K,NOS1 | 3 |
chr12:117710315 | p.R79Q,NOS1 | 3 |
chr12:117685236 | p.V236M,NOS1 | 3 |
chr12:117655926 | p.R1069Q,NOS1 | 3 |
chr12:117718572 | p.E328K,NOS1 | 2 |
chr12:117723943 | p.E496K,NOS1 | 2 |
chr12:117703242 | p.P125P,NOS1 | 2 |
chr12:117672562 | p.V264I,NOS1 | 2 |
chr12:117710231 | p.S82S,NOS1 | 2 |
chr12:117723945 | p.F305L,NOS1 | 2 |
Other DBs for Point Mutations |
Copy Number for NOS1 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 NOS1 |
Gene 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. |
Differential 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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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-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 |
ADCY3,CD14,CD180,DMBT1,EDN3,GNLY,IGFL4, KIR2DL3,LIPG,MRGPRX3,NOS1,OLAH,PDE11A,PGA5, PTN,SST,TGFBR2,TMEM100,TMEM233,VNN1,XDH | ABRA,ANKRD23,ASB15,MLIP,CAV3,CHRNG,DUSP26, FBXO40,HSPB3,ITGB1BP2,NMRK2,KLHL34,KLHL38,LDB3, MYOZ1,NOS1,NT5C1A,RAPSN,SRL,TMEM38A,TRIM54 | ||||
CCNA1,CHRNA3,CNTNAP5,DPP6,GAP43,GNG3,KIF5A, NEFM,NGB,NOS1,PENK,PHOX2A,PHOX2B,PRPH, SLC18A3,SLC5A7,SLITRK3,SOX10,ST8SIA3,STMN4,SYT9 | ABCC9,ACTA2,AOC3,SKIDA1,C20orf166-AS1,CNTNAP1,CNTNAP5, FBXL22,GPR156,RBFOX3,ITGB3,LOC100192378,LOXL4,NLGN1, NOS1,SCUBE3,TAGLN,TMEM200B,TMTC2,TRPC4,ZFHX4 |
Co-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 |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for NOS1 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00155 | nitric oxide synthase 1 (neuronal) | approved; nutraceutical | L-Citrulline | ||
DB01821 | nitric oxide synthase 1 (neuronal) | experimental | L-N(Omega)-Nitroarginine-2,4-L-Diaminobutyric Amide | ||
DB01942 | nitric oxide synthase 1 (neuronal) | experimental | Formic Acid | ||
DB01997 | nitric oxide synthase 1 (neuronal) | experimental | 3-Bromo-7-Nitroindazole | ||
DB02027 | nitric oxide synthase 1 (neuronal) | experimental | N-{(4s)-4-Amino-5-[(2-Aminoethyl)Amino]Pentyl}-N'-Nitroguanidine | ||
DB02044 | nitric oxide synthase 1 (neuronal) | experimental | N-(3-(Aminomethyl)Benzyl)Acetamidine | ||
DB02077 | nitric oxide synthase 1 (neuronal) | experimental | L-N(Omega)-Nitroarginine-(4r)-Amino-L-Proline Amide | ||
DB02143 | nitric oxide synthase 1 (neuronal) | experimental | N-Isopropyl-N'-Hydroxyguanidine | ||
DB02644 | nitric oxide synthase 1 (neuronal) | experimental | N-Omega-Propyl-L-Arginine | ||
DB02692 | nitric oxide synthase 1 (neuronal) | experimental | (6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin | ||
DB02727 | nitric oxide synthase 1 (neuronal) | experimental | N-Butyl-N'-Hydroxyguanidine | ||
DB02944 | nitric oxide synthase 1 (neuronal) | experimental | Alpha-D-Mannose | ||
DB02991 | nitric oxide synthase 1 (neuronal) | experimental | S-Ethyl-N-[4-(Trifluoromethyl)Phenyl]Isothiourea | ||
DB03014 | nitric oxide synthase 1 (neuronal) | experimental | Heme | ||
DB03144 | nitric oxide synthase 1 (neuronal) | experimental | N-Omega-Hydroxy-L-Arginine | ||
DB03147 | nitric oxide synthase 1 (neuronal) | experimental | Flavin-Adenine Dinucleotide | ||
DB03247 | nitric oxide synthase 1 (neuronal) | experimental | Riboflavin Monophosphate | ||
DB03449 | nitric oxide synthase 1 (neuronal) | experimental | N-(4-(2-((3-Chlorophenylmethyl)Amino)Ethyl)Phenyl)-2-Thiophecarboxamidine | ||
DB03461 | nitric oxide synthase 1 (neuronal) | experimental | 2'-Monophosphoadenosine 5'-Diphosphoribose | ||
DB03707 | nitric oxide synthase 1 (neuronal) | experimental | S-Ethyl-N-Phenyl-Isothiourea | ||
DB03710 | nitric oxide synthase 1 (neuronal) | experimental | N5-(1-Imino-3-Butenyl)-L-Ornithine | ||
DB03892 | nitric oxide synthase 1 (neuronal) | experimental | 5-N-Allyl-Arginine | ||
DB04223 | nitric oxide synthase 1 (neuronal) | experimental | Nitroarginine | ||
DB08018 | nitric oxide synthase 1 (neuronal) | experimental | N-{(3S,4S)-4-[(6-AMINO-4-METHYLPYRIDIN-2-YL)METHYL]PYRROLIDIN-3-YL}-N'-(4-CHLOROBENZYL)ETHANE-1,2-DIAMINE | ||
DB08019 | nitric oxide synthase 1 (neuronal) | experimental | N-{(3R,4S)-4-[(6-amino-4-methylpyridin-2-yl)methyl]pyrrolidin-3-yl}-N'-(3-chlorobenzyl)ethane-1,2-diamine | ||
DB00997 | nitric oxide synthase 1 (neuronal) | approved; investigational | Doxorubicin | ||
DB00171 | nitric oxide synthase 1 (neuronal) | approved; nutraceutical | Adenosine triphosphate | ||
DB00125 | nitric oxide synthase 1 (neuronal) | approved; nutraceutical | L-Arginine | ||
DB00435 | nitric oxide synthase 1 (neuronal) | approved | Nitric Oxide |
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Cross referenced IDs for NOS1 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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