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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for HPRT1 |
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Phenotypic Information for HPRT1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: HPRT1 |
Familial Cancer Database: HPRT1 |
* This gene is included in those cancer gene databases. |
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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_PURINE_METABOLISM KEGG_DRUG_METABOLISM_OTHER_ENZYMES REACTOME_METABOLISM_OF_NUCLEOTIDES REACTOME_PURINE_METABOLISM |
Others | |
OMIM | 300322; phenotype. 300323; phenotype. 308000; gene. |
Orphanet | 510; Lesch-Nyhan syndrome. 79233; Hypoxanthine guanine phosphoribosyltransferase partial deficiency. |
Disease | KEGG Disease: HPRT1 |
MedGen: HPRT1 (Human Medical Genetics with Condition) | |
ClinVar: HPRT1 | |
Phenotype | MGI: HPRT1 (International Mouse Phenotyping Consortium) |
PhenomicDB: HPRT1 |
Mutations for HPRT1 |
* 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 |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows HPRT1 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 |
BE180729 | SLC25A38 | 11 | 100 | 3 | 39433057 | 39433380 | HPRT1 | 99 | 179 | X | 133609267 | 133609347 | |
AW889771 | HPRT1 | 12 | 294 | X | 133634320 | 133634600 | PRH1-PRR4 | 285 | 616 | 12 | 11069957 | 11070289 | |
BE467833 | HPRT1 | 2 | 361 | X | 133634339 | 133634698 | HNRPDL | 356 | 492 | 4 | 83349432 | 83349569 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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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=16) | (# total SNVs=3) |
(# total SNVs=0) | (# 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 |
chr23:133627615-133627615 | p.V160V | 2 |
chr23:133609387-133609387 | p.S104I | 1 |
chr23:133620531-133620531 | p.G119* | 1 |
chr23:133624231-133624231 | p.V133A | 1 |
chr23:133627595-133627595 | p.N154H | 1 |
chr23:133607483-133607483 | p.L41P | 1 |
chr23:133609213-133609213 | p.T46I | 1 |
chr23:133627616-133627616 | p.A161S | 1 |
chr23:133609219-133609219 | p.R48H | 1 |
chr23:133632443-133632443 | p.R170L | 1 |
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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 |   |   |   | 3 |   |   | 1 |   | 1 |   |   | 1 | 1 |   |   |   |   |   |   | 3 |
# mutation |   |   |   | 3 |   |   | 1 |   | 1 |   |   | 1 | 1 |   |   |   |   |   |   | 3 |
nonsynonymous SNV |   |   |   | 2 |   |   | 1 |   | 1 |   |   | 1 | 1 |   |   |   |   |   |   | 2 |
synonymous SNV |   |   |   | 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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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 |
chrX:133609219 | p.R48H | 2 |
chrX:133632688 | p.E56D | 1 |
chrX:133632689 | p.F74L | 1 |
chrX:133609244 | p.R87I | 1 |
chrX:133609298 | p.P94P | 1 |
chrX:133609336 | p.N154H | 1 |
chrX:133609358 | p.V160V | 1 |
chrX:133627595 | p.Y195N | 1 |
chrX:133627615 | p.Y195C | 1 |
Other DBs for Point Mutations |
Copy Number for HPRT1 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 HPRT1 |
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 |
ATP5C1,CCDC58,CDCA3,CKS2,FAM127B,HPRT1,LOC401397, MRPL3,NKRF,NUP37,C7orf73,PTTG1,RHEB,SKA1, SNRPG,SSBP1,TIMM8A,TPX2,VBP1,VMA21,VRK1 | CISD2,EBPL,EEF1E1,H3F3A,HMGN4,HPRT1,HSBP1, IQCK,LOC653566,LYSMD2,MPZL2,OSTC,C7orf73,PPA2, PPIL1,RPL22L1,SNRPE,TMEM14A,TMEM9B,UTP18,YWHAQ | ||||
CETN2,DKC1,EMD,ERCC6L,FAM58A,HAUS7,HPRT1, MCTS1,MORF4L2,CMC4,NAA10,NKAP,NKRF,NSDHL, PDZD11,PRPS1,RBMX2,SMS,TIMM8A,VBP1,VMA21 | AK2,CMC2,C1QBP,CHAC2,HPRT1,HSPA14,HSPE1, KIAA0391,MRPL42,MRPL47,MRPS28,MYCBP,NDUFA12,NDUFAB1, POP5,PPA2,PPIA,RBBP8,SLC25A17,UCHL3,YWHAE |
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 HPRT1 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | P00492; -. |
Chemistry | ChEMBL | CHEMBL2360; -. |
Organism-specific databases | PharmGKB | PA29427; -. |
Organism-specific databases | CTD | 3251; -. |
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 |
DB00993 | hypoxanthine phosphoribosyltransferase 1 | approved | Azathioprine | ||
DB01033 | hypoxanthine phosphoribosyltransferase 1 | approved | Mercaptopurine | ||
DB01632 | hypoxanthine phosphoribosyltransferase 1 | experimental | Alpha-Phosphoribosylpyrophosphoric Acid | ||
DB02212 | hypoxanthine phosphoribosyltransferase 1 | experimental | Pyrophosphate 2- | ||
DB02309 | hypoxanthine phosphoribosyltransferase 1 | experimental | 5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine | ||
DB03153 | hypoxanthine phosphoribosyltransferase 1 | experimental | 3h-Pyrazolo[4,3-D]Pyrimidin-7-Ol | ||
DB04356 | hypoxanthine phosphoribosyltransferase 1 | experimental | 9-Deazaguanine | ||
DB00173 | hypoxanthine phosphoribosyltransferase 1 | approved; nutraceutical | Adenine | ||
DB00640 | hypoxanthine phosphoribosyltransferase 1 | approved; investigational | Adenosine | ||
DB00515 | hypoxanthine phosphoribosyltransferase 1 | approved | Cisplatin | ||
DB00441 | hypoxanthine phosphoribosyltransferase 1 | approved | Gemcitabine | ||
DB00352 | hypoxanthine phosphoribosyltransferase 1 | approved | Thioguanine | ||
DB00563 | hypoxanthine phosphoribosyltransferase 1 | approved | Methotrexate |
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Cross referenced IDs for HPRT1 |
* 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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