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Gene: NUP54 |
Gene summary for NUP54 |
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Gene information | Species | Human | Gene symbol | NUP54 | Gene ID | 53371 |
Gene name | nucleoporin 54 | |
Gene Alias | NUP54 | |
Cytomap | 4q21.1 | |
Gene Type | protein-coding | GO ID | GO:0006403 | UniProtAcc | Q7Z3B4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
53371 | NUP54 | P127T-E | Human | Esophagus | ESCC | 1.32e-14 | 1.48e-01 | 0.0826 |
53371 | NUP54 | P128T-E | Human | Esophagus | ESCC | 4.02e-34 | 9.04e-01 | 0.1241 |
53371 | NUP54 | P130T-E | Human | Esophagus | ESCC | 1.35e-39 | 8.64e-01 | 0.1676 |
53371 | NUP54 | NAFLD1 | Human | Liver | NAFLD | 1.53e-02 | 2.79e-01 | -0.04 |
53371 | NUP54 | S43 | Human | Liver | Cirrhotic | 3.48e-02 | -1.30e-01 | -0.0187 |
53371 | NUP54 | HCC1_Meng | Human | Liver | HCC | 3.42e-57 | -2.13e-02 | 0.0246 |
53371 | NUP54 | HCC2_Meng | Human | Liver | HCC | 7.74e-21 | 2.89e-02 | 0.0107 |
53371 | NUP54 | S014 | Human | Liver | HCC | 8.93e-04 | 2.58e-01 | 0.2254 |
53371 | NUP54 | S015 | Human | Liver | HCC | 8.07e-09 | 5.06e-01 | 0.2375 |
53371 | NUP54 | S016 | Human | Liver | HCC | 8.30e-09 | 3.15e-01 | 0.2243 |
53371 | NUP54 | S028 | Human | Liver | HCC | 1.08e-09 | 4.54e-01 | 0.2503 |
53371 | NUP54 | S029 | Human | Liver | HCC | 4.81e-09 | 6.22e-01 | 0.2581 |
53371 | NUP54 | RNA-P17T-P17T-2 | Human | Lung | IAC | 5.86e-06 | 6.42e-01 | 0.3371 |
53371 | NUP54 | RNA-P17T-P17T-4 | Human | Lung | IAC | 2.24e-04 | 6.66e-01 | 0.343 |
53371 | NUP54 | RNA-P17T-P17T-6 | Human | Lung | IAC | 6.53e-03 | 5.10e-01 | 0.3385 |
53371 | NUP54 | RNA-P17T-P17T-8 | Human | Lung | IAC | 4.67e-03 | 3.60e-01 | 0.3329 |
53371 | NUP54 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 3.51e-03 | 1.42e-01 | -0.013 |
53371 | NUP54 | C04 | Human | Oral cavity | OSCC | 2.88e-18 | 1.07e+00 | 0.2633 |
53371 | NUP54 | C21 | Human | Oral cavity | OSCC | 6.05e-29 | 9.32e-01 | 0.2678 |
53371 | NUP54 | C30 | Human | Oral cavity | OSCC | 2.91e-21 | 1.24e+00 | 0.3055 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0006913110 | Esophagus | ESCC | nucleocytoplasmic transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0051169110 | Esophagus | ESCC | nuclear transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0006403110 | Esophagus | ESCC | RNA localization | 166/8552 | 201/18723 | 1.95e-27 | 6.18e-25 | 166 |
GO:003238618 | Esophagus | ESCC | regulation of intracellular transport | 243/8552 | 337/18723 | 3.20e-23 | 7.25e-21 | 243 |
GO:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
GO:003450418 | Esophagus | ESCC | protein localization to nucleus | 211/8552 | 290/18723 | 4.06e-21 | 6.60e-19 | 211 |
GO:005123617 | Esophagus | ESCC | establishment of RNA localization | 134/8552 | 166/18723 | 1.23e-20 | 1.81e-18 | 134 |
GO:005102815 | Esophagus | ESCC | mRNA transport | 110/8552 | 130/18723 | 2.76e-20 | 3.80e-18 | 110 |
GO:005065717 | Esophagus | ESCC | nucleic acid transport | 131/8552 | 163/18723 | 6.94e-20 | 8.46e-18 | 131 |
GO:005065817 | Esophagus | ESCC | RNA transport | 131/8552 | 163/18723 | 6.94e-20 | 8.46e-18 | 131 |
GO:0033157110 | Esophagus | ESCC | regulation of intracellular protein transport | 169/8552 | 229/18723 | 3.31e-18 | 3.23e-16 | 169 |
GO:001593117 | Esophagus | ESCC | nucleobase-containing compound transport | 162/8552 | 222/18723 | 9.87e-17 | 7.93e-15 | 162 |
GO:0046822110 | Esophagus | ESCC | regulation of nucleocytoplasmic transport | 88/8552 | 106/18723 | 1.88e-15 | 1.19e-13 | 88 |
GO:001703818 | Esophagus | ESCC | protein import | 149/8552 | 206/18723 | 5.90e-15 | 3.31e-13 | 149 |
GO:190018018 | Esophagus | ESCC | regulation of protein localization to nucleus | 102/8552 | 136/18723 | 2.84e-12 | 1.13e-10 | 102 |
GO:000699713 | Esophagus | ESCC | nucleus organization | 96/8552 | 133/18723 | 4.66e-10 | 1.21e-08 | 96 |
GO:005117014 | Esophagus | ESCC | import into nucleus | 111/8552 | 159/18723 | 5.69e-10 | 1.44e-08 | 111 |
GO:000660613 | Esophagus | ESCC | protein import into nucleus | 108/8552 | 155/18723 | 1.16e-09 | 2.77e-08 | 108 |
GO:190458914 | Esophagus | ESCC | regulation of protein import | 49/8552 | 63/18723 | 1.91e-07 | 2.97e-06 | 49 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05014210 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0301321 | Esophagus | ESCC | Nucleocytoplasmic transport | 89/4205 | 108/8465 | 1.20e-12 | 2.37e-11 | 1.21e-11 | 89 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0301331 | Esophagus | ESCC | Nucleocytoplasmic transport | 89/4205 | 108/8465 | 1.20e-12 | 2.37e-11 | 1.21e-11 | 89 |
hsa0501414 | Liver | Cirrhotic | Amyotrophic lateral sclerosis | 187/2530 | 364/8465 | 1.56e-18 | 6.50e-17 | 4.01e-17 | 187 |
hsa0501415 | Liver | Cirrhotic | Amyotrophic lateral sclerosis | 187/2530 | 364/8465 | 1.56e-18 | 6.50e-17 | 4.01e-17 | 187 |
hsa0501422 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa03013 | Liver | HCC | Nucleocytoplasmic transport | 81/4020 | 108/8465 | 4.28e-09 | 6.83e-08 | 3.80e-08 | 81 |
hsa0501432 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa030131 | Liver | HCC | Nucleocytoplasmic transport | 81/4020 | 108/8465 | 4.28e-09 | 6.83e-08 | 3.80e-08 | 81 |
hsa0501428 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa030136 | Oral cavity | OSCC | Nucleocytoplasmic transport | 82/3704 | 108/8465 | 7.93e-12 | 1.33e-10 | 6.77e-11 | 82 |
hsa05014112 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa0301311 | Oral cavity | OSCC | Nucleocytoplasmic transport | 82/3704 | 108/8465 | 7.93e-12 | 1.33e-10 | 6.77e-11 | 82 |
hsa0501445 | Oral cavity | EOLP | Amyotrophic lateral sclerosis | 93/1218 | 364/8465 | 7.07e-09 | 1.14e-07 | 6.74e-08 | 93 |
hsa030134 | Oral cavity | EOLP | Nucleocytoplasmic transport | 34/1218 | 108/8465 | 4.24e-06 | 2.91e-05 | 1.72e-05 | 34 |
hsa0501455 | Oral cavity | EOLP | Amyotrophic lateral sclerosis | 93/1218 | 364/8465 | 7.07e-09 | 1.14e-07 | 6.74e-08 | 93 |
hsa030135 | Oral cavity | EOLP | Nucleocytoplasmic transport | 34/1218 | 108/8465 | 4.24e-06 | 2.91e-05 | 1.72e-05 | 34 |
hsa0501462 | Oral cavity | NEOLP | Amyotrophic lateral sclerosis | 95/1112 | 364/8465 | 8.76e-12 | 3.98e-10 | 2.50e-10 | 95 |
hsa0501472 | Oral cavity | NEOLP | Amyotrophic lateral sclerosis | 95/1112 | 364/8465 | 8.76e-12 | 3.98e-10 | 2.50e-10 | 95 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
NUP54 | SNV | Missense_Mutation | c.1453C>G | p.Leu485Val | p.L485V | Q7Z3B4 | protein_coding | tolerated(0.06) | benign(0.006) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
NUP54 | SNV | Missense_Mutation | novel | c.1392N>T | p.Lys464Asn | p.K464N | Q7Z3B4 | protein_coding | deleterious(0) | possibly_damaging(0.567) | TCGA-AC-A5EH-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NUP54 | SNV | Missense_Mutation | rs781147108 | c.739C>T | p.Arg247Cys | p.R247C | Q7Z3B4 | protein_coding | deleterious(0.05) | benign(0.033) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NUP54 | SNV | Missense_Mutation | c.562G>A | p.Asp188Asn | p.D188N | Q7Z3B4 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD | |
NUP54 | SNV | Missense_Mutation | c.515G>A | p.Arg172Gln | p.R172Q | Q7Z3B4 | protein_coding | deleterious(0.01) | probably_damaging(0.965) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
NUP54 | SNV | Missense_Mutation | novel | c.1342N>G | p.Arg448Gly | p.R448G | Q7Z3B4 | protein_coding | deleterious(0.02) | benign(0.106) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NUP54 | SNV | Missense_Mutation | c.562N>A | p.Asp188Asn | p.D188N | Q7Z3B4 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
NUP54 | SNV | Missense_Mutation | novel | c.1152N>A | p.His384Gln | p.H384Q | Q7Z3B4 | protein_coding | deleterious(0) | possibly_damaging(0.521) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NUP54 | SNV | Missense_Mutation | c.530G>T | p.Gly177Val | p.G177V | Q7Z3B4 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-CM-4748-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | fluorouracil | SD | |
NUP54 | SNV | Missense_Mutation | rs749764062 | c.362N>T | p.Ala121Val | p.A121V | Q7Z3B4 | protein_coding | tolerated(0.37) | benign(0.086) | TCGA-DM-A1D4-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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