 |
| |
| |
| |
| |
| |
| |
|
| TissGeneSummary for ASS1 |
 Gene summary |
| Basic gene information | Gene symbol | ASS1 |
| Gene name | argininosuccinate synthase 1 | |
| Synonyms | ASS|CTLN1 | |
| Cytomap | UCSC genome browser: 9q34.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000050.4, NM_054012.3, | |
| Description | argininosuccinate synthaseargininosuccinate synthetase 1citrulline--aspartate ligasecitrulline-aspartate ligase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603470 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000130707 | ||
| HPRD : 04590 | ||
| Vega : OTTHUMG00000020806 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ASS1 | |
| BioGPS: 445 | ||
| Pathway | NCI Pathway Interaction Database: ASS1 | |
| KEGG: ASS1 | ||
| REACTOME: ASS1 | ||
| Pathway Commons: ASS1 | ||
| Context | iHOP: ASS1 | |
| ligand binding site mutation search in PubMed: ASS1 | ||
| UCL Cancer Institute: ASS1 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | CervixLiver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | CESCLIHC | |
| Reference showing the relevant tissue of ASS1 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
| Top |
| TissGeneExp for ASS1 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
 |
| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
 |
| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
 |
| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
 |
| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| KICH | -3.121565044 | 2.187806956 | -5.309372 | 3.01E-12 | 3.22E-11 |
| KIRC | 0.7730704 | 2.6445579 | -1.8714875 | 7.62E-11 | 2.75E-10 |
| BRCA | -0.312083255 | 0.86207464 | -1.174157895 | 5.81E-10 | 2.12E-09 |
| LIHC | 3.437602956 | 5.461020956 | -2.023418 | 8.36E-14 | 2.09E-12 |
| KIRP | -0.024342794 | 3.259897831 | -3.284240625 | 1.46E-08 | 1.10E-07 |
| ESCA | 0.506323683 | -0.912958135 | 1.419281818 | 0.00325 | 0.030369748 |
| PRAD | -0.304210583 | 0.717787494 | -1.021998077 | 1.99E-05 | 0.000100896 |
| Top |
| TissGene-miRNA for ASS1 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
| Top |
| TissGeneMut for ASS1 |
| TissGeneSNV for ASS1 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
 |
 |
| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
 |
| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.P198S | HNSC | 1 |
| p.W23X | ESCA | 1 |
| p.K412T | OV | 1 |
| p.Q107* | HNSC | 1 |
| p.E283K | SKCM | 1 |
| p.A216T | ESCA | 1 |
| p.R233H | UCEC | 1 |
| p.Q78H | ESCA | 1 |
| p.D240N | SKCM | 1 |
| p.D85Y | LUAD | 1 |
| p.A258T | STAD | 1 |
| p.V235A | STAD | 1 |
| p.D159N | SKCM | 1 |
| p.W326* | SKCM | 1 |
| p.R363Q | CESC | 1 |
| p.Q201R | STAD | 1 |
| p.R153W | STAD | 1 |
| p.E224K | STAD | 1 |
| p.R272C | STAD | 1 |
| p.R404H | LUAD | 1 |
| p.H327Y | UCEC | 1 |
| p.E343K | SKCM | 1 |
| p.R127W | SKCM | 1 |
| p.V103L | LUAD | 1 |
| p.G241D | STAD | 1 |
| p.S341F | SKCM | 1 |
| p.A286T | COAD | 1 |
| p.E104K | SKCM | 1 |
| p.G117S | LGG | 1 |
| p.R272C | LGG | 1 |
| p.E226K | SKCM | 1 |
| p.R279P | BRCA | 1 |
| p.P144R | LUAD | 1 |
| p.S6F | BLCA | 1 |
| p.L315F | BLCA | 1 |
| p.D182N | SKCM | 1 |
| p.E283G | LIHC | 1 |
| p.R265H | STAD | 1 |
| p.I281M | LUAD | 1 |
| p.V64F | KIRC | 1 |
| p.L223V | CESC | 1 |
| p.N237S | LIHC | 1 |
| p.G122E | SKCM | 1 |
| p.S16N | UCEC | 1 |
| p.R307C | COAD | 1 |
| p.G275E | SKCM | 1 |
| p.D106N | UCEC | 1 |
| p.V22L | LIHC | 1 |
| p.R146K | SKCM | 1 |
| p.E42K | SKCM | 1 |
| p.R383H | GBM | 1 |
| Top |
| TissGeneCNV for ASS1 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
 |
| Top |
| TissGeneFusions for ASS1 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| TCGAfusionPortal | PRADA | BRCA | TCGA-A8-A0A4-01A | ASS1-NCS1 | In-frame | Chr9:133355836 | Chr9:132963237 |
| Top |
| TissGeneNet for ASS1 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (tumor) | ASS1, UBC, YWHAZ, SP1, MLH1, JAK2, MYC, PTPN1, CDR2, AKTIP, ARAF, ASCC2, MT2A, ELN (normal) |
 |  |
| Top |
| TissGeneProg for ASS1 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
 |
| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
 |
| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
 |
| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
 |
| Top |
| TissGeneClin for ASS1 |
| TissGeneDrug for ASS1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00125 | L-Arginine | Small molecule | Approved|Nutraceutical | |
| DB00171 | Adenosine triphosphate | Small molecule | Approved|Nutraceutical |
| Top |
| TissGeneDisease for ASS1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0175683 | Citrullinemia | 48 | BeFree,CLINVAR,CTD_human,LHGDN,MGD,UNIPROT |
| umls:C0025202 | melanoma | 6 | BeFree |
| umls:C0751751 | Argininosuccinic Acid Synthetase Deficiency, Complete | 6 | BeFree |
| umls:C2239176 | Liver carcinoma | 6 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 3 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 3 | BeFree |
| umls:C0154246 | Urea Cycle Disorders, Inborn | 3 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 3 | BeFree |
| umls:C0013423 | Dystonia Musculorum Deformans | 2 | BeFree |
| umls:C0023418 | leukemia | 2 | BeFree |
| umls:C0023467 | Leukemia, Myelocytic, Acute | 2 | BeFree |
| umls:C0023903 | Liver neoplasms | 2 | BeFree |
| umls:C0025521 | Inborn Errors of Metabolism | 2 | BeFree |
| umls:C0033626 | Protein Deficiency | 2 | BeFree |
| umls:C0085584 | Encephalopathies | 2 | BeFree |
| umls:C0235974 | Pancreatic carcinoma | 2 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 2 | BeFree |
| umls:C0346647 | Malignant neoplasm of pancreas | 2 | BeFree |
| umls:C0596263 | Carcinogenesis | 2 | BeFree |
| umls:C0686619 | Secondary malignant neoplasm of lymph node | 2 | BeFree |
| umls:C0812413 | Malignant Pleural Mesothelioma | 2 | BeFree |
| umls:C1851945 | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | 2 | BeFree |
| umls:C0001349 | Acute-Phase Reaction | 1 | RGD |
| umls:C0003130 | Anoxia | 1 | RGD |
| umls:C0003864 | Arthritis | 1 | BeFree |
| umls:C0004364 | Autoimmune Diseases | 1 | BeFree |
| umls:C0004623 | Bacterial Infections | 1 | BeFree |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | BeFree |
| umls:C0005695 | Bladder Neoplasm | 1 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0007134 | Renal Cell Carcinoma | 1 | LHGDN |
| umls:C0008924 | Cleft Lip | 1 | GAD |
| umls:C0008925 | Cleft Palate | 1 | GAD |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
| umls:C0011875 | Diabetic Angiopathies | 1 | CTD_human |
| umls:C0017636 | Glioblastoma | 1 | BeFree |
| umls:C0021053 | Immune System Diseases | 1 | BeFree |
| umls:C0023473 | Myeloid Leukemia, Chronic | 1 | BeFree |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | RGD |
| umls:C0024141 | Lupus Erythematosus, Systemic | 1 | BeFree |
| umls:C0024299 | Lymphoma | 1 | BeFree |
| umls:C0024623 | Malignant neoplasm of stomach | 1 | BeFree |
| umls:C0025149 | Medulloblastoma | 1 | BeFree |
| umls:C0027341 | Nail-Patella Syndrome | 1 | BeFree |
| umls:C0029463 | Osteosarcoma | 1 | BeFree |
| umls:C0036690 | Septicemia | 1 | BeFree |
| umls:C0040822 | Tremor | 1 | BeFree |
| umls:C0042164 | Uveitis | 1 | RGD |
| umls:C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | BeFree |
| umls:C0085605 | Liver Failure | 1 | RGD |
| umls:C0149925 | Small cell carcinoma of lung | 1 | BeFree |
| umls:C0153676 | Secondary malignant neoplasm of lung | 1 | BeFree |
| umls:C0178874 | Tumor Progression | 1 | BeFree |
| umls:C0220994 | Hyperammonemia | 1 | RGD |
| umls:C0242363 | Islet Cell Tumor | 1 | BeFree |
| umls:C0242706 | Hyperoxia | 1 | RGD |
| umls:C0243026 | Sepsis | 1 | BeFree |
| umls:C0280100 | Solid tumour | 1 | BeFree |
| umls:C0345967 | Malignant mesothelioma | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0376618 | Endotoxemia | 1 | RGD |
| umls:C0393615 | Familial Tremor | 1 | BeFree |
| umls:C0585442 | Osteosarcoma of bone | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0677886 | Epithelial ovarian cancer | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0684249 | Carcinoma of lung | 1 | BeFree |
| umls:C0699791 | Stomach Carcinoma | 1 | BeFree |
| umls:C0699885 | Carcinoma of bladder | 1 | BeFree |
| umls:C0919267 | ovarian neoplasm | 1 | BeFree |
| umls:C1337011 | Well Differentiated Pancreatic Endocrine Tumor | 1 | BeFree |
| umls:C1621958 | Glioblastoma Multiforme | 1 | BeFree |
| umls:C1709246 | Non-Neoplastic Disorder | 1 | BeFree |
| umls:C2349952 | Oropharyngeal Carcinoma | 1 | BeFree |
| umls:C2931822 | Nasopharyngeal carcinoma | 1 | BeFree |
| umls:C3714524 | Fibromyxosarcoma | 1 | BeFree |
Copyright 2016-Present - The University of Texas Health Science Center at Houston (UTHealth) Web File Viewing | How to Report, Fraud, Waste and Abuse | State of Texas | Statewide Search | Texas Homeland Security | Site Policies |