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TissGeneSummary for UPB1 |
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Basic gene information | Gene symbol | UPB1 |
Gene name | ureidopropionase, beta | |
Synonyms | BUP1 | |
Cytomap | UCSC genome browser: 22q11.2 | |
Type of gene | protein-coding | |
RefGenes | NM_016327.2, | |
Description | beta-alanine synthasebeta-ureidopropionasen-carbamoyl-beta-alanine amidohydrolase | |
Modification date | 20141217 | |
dbXrefs | MIM : 606673 | |
HGNC : HGNC | ||
Ensembl : ENSG00000100024 | ||
HPRD : 09451 | ||
Vega : OTTHUMG00000150749 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_UPB1 | |
BioGPS: 51733 | ||
Pathway | NCI Pathway Interaction Database: UPB1 | |
KEGG: UPB1 | ||
REACTOME: UPB1 | ||
Pathway Commons: UPB1 | ||
Context | iHOP: UPB1 | |
ligand binding site mutation search in PubMed: UPB1 | ||
UCL Cancer Institute: UPB1 | ||
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) | KidneyLiver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHLIHC | |
Reference showing the relevant tissue of UPB1 | ||
Description by TissGene annotations | Protective TissGene in RFS Significant down-regulated DEG TissgsKTS CNV lost TissGeneKTS Fused withOncogene Fused withTSGene |
* 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. |
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GO ID | GO term | PubMed ID |
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TissGeneExp for UPB1 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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![]() (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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![]() (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. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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- 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 |
KIRP | 1.308961755 | 6.553530505 | -5.24456875 | 2.98E-14 | 6.96E-13 |
KICH | -0.50722562 | 5.32163038 | -5.828856 | 5.38E-13 | 6.70E-12 |
LUSC | -0.52097213 | 1.471280811 | -1.992252941 | 1.20E-13 | 6.17E-13 |
LUAD | -0.33506831 | 1.413478242 | -1.748546552 | 1.07E-15 | 1.17E-14 |
LIHC | 8.89406838 | 10.59148638 | -1.697418 | 0.000108 | 0.000371888 |
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TissGene-miRNA for UPB1 |
![]() (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 |
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TissGeneMut for UPB1 |
TissGeneSNV for UPB1 |
![]() 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. |
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![]() (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) |
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- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.R155C | SKCM | 2 |
p.R101Q | SKCM | 2 |
p.R266W | SKCM | 2 |
p.R326Q | SKCM | 1 |
p.D309E | OV | 1 |
p.P178S | SKCM | 1 |
p.E137Q | BLCA | 1 |
p.R168W | HNSC | 1 |
p.V95G | SKCM | 1 |
p.A278S | STAD | 1 |
p.A4V | STAD | 1 |
p.R236W | HNSC | 1 |
p.N206K | BLCA | 1 |
p.R227K | SKCM | 1 |
p.E207K | UCEC | 1 |
p.P88L | SKCM | 1 |
p.D267Y | LUAD | 1 |
p.T359A | KIRC | 1 |
p.K32R | UCEC | 1 |
p.R159K | SKCM | 1 |
p.G303R | COAD | 1 |
p.R220* | SKCM | 1 |
p.I192V | UCS | 1 |
p.Q65X | STAD | 1 |
p.F44L | LIHC | 1 |
p.E45K | UCEC | 1 |
p.E45K | SKCM | 1 |
p.S232L | BLCA | 1 |
p.Q65* | STAD | 1 |
p.F57Y | SKCM | 1 |
p.P183S | SKCM | 1 |
p.G235R | STAD | 1 |
p.W20* | UCEC | 1 |
p.S300L | BLCA | 1 |
p.R31C | BLCA | 1 |
p.R31H | STAD | 1 |
p.S187F | UCEC | 1 |
p.S8L | SKCM | 1 |
p.S324N | UCEC | 1 |
p.W286* | SKCM | 1 |
p.Q166* | SKCM | 1 |
p.E271K | UCEC | 1 |
p.V72A | KIRP | 1 |
p.H97R | UCEC | 1 |
p.R17H | PAAD | 1 |
p.R150H | BRCA | 1 |
p.L133F | OV | 1 |
p.V38M | SKCM | 1 |
p.Q308H | READ | 1 |
p.A87V | UCEC | 1 |
p.R326Q | READ | 1 |
p.F125Y | SKCM | 1 |
p.I260V | UCS | 1 |
p.A102D | PAAD | 1 |
p.R169Q | SKCM | 1 |
p.E137A | UCEC | 1 |
p.N138K | BLCA | 1 |
p.R334W | SKCM | 1 |
p.A285V | SKCM | 1 |
p.H162Y | SKCM | 1 |
p.S179F | SKCM | 1 |
p.E69Q | BLCA | 1 |
p.A217V | SKCM | 1 |
p.V28I | PAAD | 1 |
p.V74M | STAD | 1 |
p.R68Q | SKCM | 1 |
p.H237Y | THYM | 1 |
p.G75E | LUAD | 1 |
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TissGeneCNV for UPB1 |
![]() (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for UPB1 |
![]() (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 | HNSC | TCGA-CX-7086-01A | BCR-UPB1 | CDS-5UTR | Chr22:23524426 | Chr22:24890077 |
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TissGeneNet for UPB1 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for UPB1 |
![]() (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. |
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![]() (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. |
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![]() (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. |
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![]() (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. |
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TissGeneClin for UPB1 |
TissGeneDrug for UPB1 |
![]() (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for UPB1 |
![]() (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C1291512 | Beta-Ureidopropionase Deficiency | 3 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C0004352 | Autistic Disorder | 1 | CTD_human |
umls:C0009404 | Colorectal Neoplasms | 1 | GAD |
umls:C0025517 | Metabolic Diseases | 1 | CTD_human |
umls:C0037769 | West Syndrome | 1 | CTD_human |