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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for NUP43 |
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Phenotypic Information for NUP43(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: NUP43 |
Familial Cancer Database: NUP43 |
* 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/ |
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REACTOME_METABOLISM_OF_NON_CODING_RNA REACTOME_METABOLISM_OF_RNA REACTOME_METABOLISM_OF_CARBOHYDRATES |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: NUP43 |
MedGen: NUP43 (Human Medical Genetics with Condition) | |
ClinVar: NUP43 | |
Phenotype | MGI: NUP43 (International Mouse Phenotyping Consortium) |
PhenomicDB: NUP43 |
Mutations for NUP43 |
* 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. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows NUP43 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 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=27) | (# total SNVs=1) |
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(# total SNVs=0) | (# total SNVs=1) |
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* 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 |
chr6:150067096-150067096 | p.G75C | 2 |
chr6:150057694-150057694 | p.T235A | 1 |
chr6:150063596-150063596 | p.I144I | 1 |
chr6:150048223-150048223 | p.I342T | 1 |
chr6:150067127-150067127 | p.D64D | 1 |
chr6:150057737-150057737 | p.L220L | 1 |
chr6:150063642-150063642 | p.Y129C | 1 |
chr6:150048227-150048227 | p.E341Q | 1 |
chr6:150067146-150067146 | p.D58G | 1 |
chr6:150057741-150057741 | p.P219Q | 1 |
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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 |   |   | 2 |   |   | 2 |   |   |   |   | 7 | 1 |   |   | 1 | 2 | 2 |   | 3 |
# mutation | 3 |   |   | 2 |   |   | 2 |   |   |   |   | 7 | 1 |   |   | 1 | 2 | 2 |   | 3 |
nonsynonymous SNV | 2 |   |   | 2 |   |   | 2 |   |   |   |   | 7 | 1 |   |   | 1 | 1 | 2 |   | 2 |
synonymous SNV | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 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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* 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 |
chr6:150063596 | p.T235A | 1 |
chr6:150052870 | p.L220L | 1 |
chr6:150063650 | p.D199E | 1 |
chr6:150057671 | p.H176Y | 1 |
chr6:150064774 | p.D171H | 1 |
chr6:150057682 | p.R152Q | 1 |
chr6:150064778 | p.V145I | 1 |
chr6:150057694 | p.V353V | 1 |
chr6:150067096 | p.I144I | 1 |
chr6:150057737 | p.I342S | 1 |
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* 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. |
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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 NUP43 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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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BCLAF1,GINM1,FBXO30,FBXO5,KATNA1,LATS1,LRP11, LTV1,MTRF1L,NUP43,ORC3,PCMT1,PEX3,PPIL4, SCAF8,SENP6,SHPRH,SNX14,TAB2,VTA1,ZBTB2 | C17orf75,CBR4,CNOT6,ETNK1,MTF2,NUP43,PDIK1L, SLC11A2,TIA1,TMEM41B,ZBED5,ZNF260,ZNF273,ZNF439, ZNF443,ZNF461,ZNF493,ZNF529,ZNF708,ZNF709,ZNF738 |
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MTFR2,FBXO5,FGFR1OP,HBS1L,HDAC2,LTV1,MAP7, MRPL18,MRS2,NUP43,ORC3,PCMT1,PDCD2,QRSL1, RFC4,TBP,TCP1,TFB1M,TRMT11,TTK,ZUFSP | CEP83,FKTN,G2E3,HN1L,L2HGDH,MMACHC,MRPS25, MYB,NR2C1,NSUN4,NUP43,PTCD3,SHQ1,SRPK1, THOC1,TMEM168,TTPA,UNG,WDR89,ZNF138,ZNF28 |
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* 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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Pharmacological Information for NUP43 |
There's no related Drug. |
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Cross referenced IDs for NUP43 |
* 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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