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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for NUPL1 |
Basic gene info. | Gene symbol | NUPL1 |
Gene name | nucleoporin like 1 | |
Synonyms | PRO2463 | |
Cytomap | UCSC genome browser: 13q12.13 | |
Genomic location | chr13 :25875665-25916561 | |
Type of gene | protein-coding | |
RefGenes | NM_001008564.1, NM_014089.3,NM_001008565.1, | |
Ensembl id | ENSG00000139496 | |
Description | nucleoporin p58/p45nucleoporin-like protein 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 607615 | |
HGNC : HGNC | ||
Ensembl : ENSG00000139496 | ||
HPRD : 06355 | ||
Vega : OTTHUMG00000016608 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_NUPL1 | |
BioGPS: 9818 | ||
Gene Expression Atlas: ENSG00000139496 | ||
The Human Protein Atlas: ENSG00000139496 | ||
Pathway | NCI Pathway Interaction Database: NUPL1 | |
KEGG: NUPL1 | ||
REACTOME: NUPL1 | ||
ConsensusPathDB | ||
Pathway Commons: NUPL1 | ||
Metabolism | MetaCyc: NUPL1 | |
HUMANCyc: NUPL1 | ||
Regulation | Ensembl's Regulation: ENSG00000139496 | |
miRBase: chr13 :25,875,665-25,916,561 | ||
TargetScan: NM_001008564 | ||
cisRED: ENSG00000139496 | ||
Context | iHOP: NUPL1 | |
cancer metabolism search in PubMed: NUPL1 | ||
UCL Cancer Institute: NUPL1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for NUPL1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: NUPL1 |
Familial Cancer Database: NUPL1 |
* 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: NUPL1 |
MedGen: NUPL1 (Human Medical Genetics with Condition) | |
ClinVar: NUPL1 | |
Phenotype | MGI: NUPL1 (International Mouse Phenotyping Consortium) |
PhenomicDB: NUPL1 |
Mutations for NUPL1 |
* 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 NUPL1 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 |
BE180532 | MALAT1 | 2 | 114 | 11 | 65268220 | 65268334 | NUPL1 | 115 | 166 | 13 | 25915777 | 25915828 | |
D44719 | NUPL1 | 1 | 123 | 13 | 25876729 | 25876851 | NUPL1 | 121 | 198 | 13 | 25876802 | 25876879 | |
BE180526 | MALAT1 | 1 | 113 | 11 | 65268220 | 65268333 | NUPL1 | 114 | 165 | 13 | 25915777 | 25915828 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) | 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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Stat. for Non-Synonymous SNVs (# total SNVs=37) | (# total SNVs=7) |
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(# total SNVs=0) | (# total SNVs=2) |
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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 |
chr13:25905637-25905637 | p.P459L | 3 |
chr13:25881994-25881994 | p.P53L | 3 |
chr13:25911110-25911110 | p.P491L | 2 |
chr13:25876011-25876011 | p.A34T | 2 |
chr13:25883397-25883397 | p.T88I | 2 |
chr13:25914221-25914221 | p.Q583Q | 2 |
chr13:25911090-25911090 | p.L484L | 2 |
chr13:25882049-25882050 | p.A73fs*42 | 2 |
chr13:25887131-25887131 | p.G133S | 1 |
chr13:25876007-25876007 | p.T32T | 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 | 1 | 3 | 3 | 3 |   |   | 3 |   | 3 |   |   | 6 | 1 |   |   |   | 5 | 7 |   | 9 |
# mutation | 1 | 3 | 3 | 3 |   |   | 3 |   | 3 |   |   | 6 | 1 |   |   |   | 5 | 7 |   | 10 |
nonsynonymous SNV | 1 | 3 | 3 | 3 |   |   | 1 |   | 2 |   |   | 5 | 1 |   |   |   | 3 | 5 |   | 6 |
synonymous SNV |   |   |   |   |   |   | 2 |   | 1 |   |   | 1 |   |   |   |   | 2 | 2 |   | 4 |
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 |
chr13:25883397 | p.Q382E,NUPL1 | 2 |
chr13:25901597 | p.T88I | 2 |
chr13:25889554 | p.I368V,NUPL1 | 1 |
chr13:25876007 | p.T32T,NUPL1 | 1 |
chr13:25901160 | p.G121S,NUPL1 | 1 |
chr13:25889590 | p.S35F,NUPL1 | 1 |
chr13:25876015 | p.T176A,NUPL1 | 1 |
chr13:25883413 | p.Q431Q,NUPL1 | 1 |
chr13:25893470 | p.G41W,NUPL1 | 1 |
chr13:25881957 | p.G182R,NUPL1 | 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 NUPL1 |
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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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BRCA2,PROSER1,CENPJ,CKAP2,DIS3,GPALPP1,LNX2, MPHOSPH8,MTMR6,NUPL1,PAN3,RBM26,RNF219,RNF6, SLC7A1,SPATA13,USP12,USPL1,XPO4,ZDHHC20,ZMYM2 | BCLAF1,SPRTN,CD2AP,ERBB2IP,ESCO1,HECTD2,KIF3A, MED23,MIER3,MOB1B,NUPL1,RAD1,RBM27,SP4, TRIM33,TRUB1,USP37,WAPAL,YTHDC2,ZDHHC21,ZNF24 |
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AKAP11,BRCA2,CDK8,CENPJ,CKAP2,DIS3,MICU2, INTS6,IPO5,GPALPP1,KPNA3,LNX2,MTMR6,NUPL1, PAN3,PARP4,PDS5B,RNF6,SKA3,XPO4,ZDHHC20 | C21orf59,CEP83,CDK2,CHORDC1,DDX21,DKC1,DNAH14, GNPNAT1,GTPBP4,KIAA0020,LARP1B,NOP58,NUPL1,PAICS, POLD3,PUS7,SRSF10,TFDP1,UBXN8,WDR75,WDR77 |
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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 NUPL1 |
There's no related Drug. |
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Cross referenced IDs for NUPL1 |
* 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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