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Gene: REL |
Gene summary for REL |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | REL | Gene ID | 5966 |
| Gene name | REL proto-oncogene, NF-kB subunit | |
| Gene Alias | C-Rel | |
| Cytomap | 2p16.1 | |
| Gene Type | protein-coding | GO ID | GO:0001816 | UniProtAcc | Q04864 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 5966 | REL | CA_HPV_1 | Human | Cervix | CC | 3.81e-02 | 9.14e-02 | 0.0264 |
| 5966 | REL | CA_HPV_2 | Human | Cervix | CC | 1.51e-02 | 3.59e-01 | 0.0391 |
| 5966 | REL | CA_HPV_3 | Human | Cervix | CC | 3.90e-08 | -1.87e-01 | 0.0414 |
| 5966 | REL | CCII_1 | Human | Cervix | CC | 2.39e-06 | -5.04e-01 | 0.3249 |
| 5966 | REL | sample3 | Human | Cervix | CC | 5.02e-08 | -1.98e-01 | 0.1387 |
| 5966 | REL | H2 | Human | Cervix | HSIL_HPV | 3.62e-02 | -3.34e-01 | 0.0632 |
| 5966 | REL | L1 | Human | Cervix | CC | 8.20e-12 | -5.76e-01 | 0.0802 |
| 5966 | REL | T3 | Human | Cervix | CC | 1.67e-05 | -1.95e-01 | 0.1389 |
| 5966 | REL | LZE2D | Human | Esophagus | HGIN | 6.52e-03 | 8.88e-01 | 0.0642 |
| 5966 | REL | LZE4T | Human | Esophagus | ESCC | 5.80e-37 | 1.46e+00 | 0.0811 |
| 5966 | REL | LZE5T | Human | Esophagus | ESCC | 3.10e-07 | 7.49e-01 | 0.0514 |
| 5966 | REL | LZE7T | Human | Esophagus | ESCC | 1.73e-18 | 1.10e+00 | 0.0667 |
| 5966 | REL | LZE8T | Human | Esophagus | ESCC | 4.14e-15 | 7.71e-01 | 0.067 |
| 5966 | REL | LZE20T | Human | Esophagus | ESCC | 1.86e-03 | 4.49e-01 | 0.0662 |
| 5966 | REL | LZE22D1 | Human | Esophagus | HGIN | 5.12e-07 | 1.44e-01 | 0.0595 |
| 5966 | REL | LZE22T | Human | Esophagus | ESCC | 1.52e-05 | 3.68e-01 | 0.068 |
| 5966 | REL | LZE24T | Human | Esophagus | ESCC | 4.25e-25 | 6.60e-01 | 0.0596 |
| 5966 | REL | LZE21T | Human | Esophagus | ESCC | 4.73e-15 | 1.25e+00 | 0.0655 |
| 5966 | REL | LZE6T | Human | Esophagus | ESCC | 4.59e-05 | 5.02e-01 | 0.0845 |
| 5966 | REL | P1T-E | Human | Esophagus | ESCC | 5.51e-31 | 1.82e+00 | 0.0875 |
| Page: 1 2 3 4 5 6 7 8 9 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
| GO:00453338 | Breast | Precancer | cellular respiration | 59/1080 | 230/18723 | 5.97e-23 | 5.32e-20 | 59 |
| GO:00159808 | Breast | Precancer | energy derivation by oxidation of organic compounds | 70/1080 | 318/18723 | 8.33e-23 | 6.37e-20 | 70 |
| GO:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
| GO:00525479 | Breast | Precancer | regulation of peptidase activity | 71/1080 | 461/18723 | 2.72e-14 | 6.94e-12 | 71 |
| GO:00525489 | Breast | Precancer | regulation of endopeptidase activity | 67/1080 | 432/18723 | 1.06e-13 | 2.36e-11 | 67 |
| GO:20012349 | Breast | Precancer | negative regulation of apoptotic signaling pathway | 39/1080 | 224/18723 | 5.35e-10 | 4.77e-08 | 39 |
| GO:00458629 | Breast | Precancer | positive regulation of proteolysis | 51/1080 | 372/18723 | 7.77e-09 | 5.70e-07 | 51 |
| GO:00109529 | Breast | Precancer | positive regulation of peptidase activity | 33/1080 | 197/18723 | 3.01e-08 | 1.89e-06 | 33 |
| GO:00086378 | Breast | Precancer | apoptotic mitochondrial changes | 23/1080 | 107/18723 | 3.44e-08 | 2.12e-06 | 23 |
| GO:00518816 | Breast | Precancer | regulation of mitochondrial membrane potential | 18/1080 | 74/18723 | 1.45e-07 | 7.82e-06 | 18 |
| GO:00109509 | Breast | Precancer | positive regulation of endopeptidase activity | 29/1080 | 179/18723 | 4.23e-07 | 1.90e-05 | 29 |
| GO:00018367 | Breast | Precancer | release of cytochrome c from mitochondria | 14/1080 | 59/18723 | 4.80e-06 | 1.47e-04 | 14 |
| GO:00434677 | Breast | Precancer | regulation of generation of precursor metabolites and energy | 22/1080 | 130/18723 | 4.95e-06 | 1.51e-04 | 22 |
| GO:00421107 | Breast | Precancer | T cell activation | 52/1080 | 487/18723 | 1.37e-05 | 3.42e-04 | 52 |
| GO:19037069 | Breast | Precancer | regulation of hemopoiesis | 41/1080 | 367/18723 | 3.95e-05 | 8.52e-04 | 41 |
| GO:0010917 | Breast | Precancer | negative regulation of mitochondrial membrane potential | 6/1080 | 13/18723 | 4.39e-05 | 9.40e-04 | 6 |
| GO:0045837 | Breast | Precancer | negative regulation of membrane potential | 6/1080 | 14/18723 | 7.30e-05 | 1.44e-03 | 6 |
| GO:00508637 | Breast | Precancer | regulation of T cell activation | 37/1080 | 329/18723 | 8.04e-05 | 1.56e-03 | 37 |
| GO:19021055 | Breast | Precancer | regulation of leukocyte differentiation | 32/1080 | 279/18723 | 1.66e-04 | 2.74e-03 | 32 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa040142 | Cervix | CC | Ras signaling pathway | 51/1267 | 236/8465 | 3.55e-03 | 1.34e-02 | 7.91e-03 | 51 |
| hsa0401411 | Cervix | CC | Ras signaling pathway | 51/1267 | 236/8465 | 3.55e-03 | 1.34e-02 | 7.91e-03 | 51 |
| hsa052039 | Esophagus | HGIN | Viral carcinogenesis | 53/1383 | 204/8465 | 2.58e-04 | 2.71e-03 | 2.15e-03 | 53 |
| hsa0520315 | Esophagus | HGIN | Viral carcinogenesis | 53/1383 | 204/8465 | 2.58e-04 | 2.71e-03 | 2.15e-03 | 53 |
| hsa0520325 | Esophagus | ESCC | Viral carcinogenesis | 137/4205 | 204/8465 | 2.47e-07 | 1.88e-06 | 9.62e-07 | 137 |
| hsa052028 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
| hsa0520335 | Esophagus | ESCC | Viral carcinogenesis | 137/4205 | 204/8465 | 2.47e-07 | 1.88e-06 | 9.62e-07 | 137 |
| hsa0520213 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
| hsa05203 | Liver | Cirrhotic | Viral carcinogenesis | 76/2530 | 204/8465 | 1.34e-02 | 4.20e-02 | 2.59e-02 | 76 |
| hsa052031 | Liver | Cirrhotic | Viral carcinogenesis | 76/2530 | 204/8465 | 1.34e-02 | 4.20e-02 | 2.59e-02 | 76 |
| hsa052032 | Liver | HCC | Viral carcinogenesis | 117/4020 | 204/8465 | 2.68e-03 | 8.98e-03 | 5.00e-03 | 117 |
| hsa052033 | Liver | HCC | Viral carcinogenesis | 117/4020 | 204/8465 | 2.68e-03 | 8.98e-03 | 5.00e-03 | 117 |
| hsa052034 | Lung | IAC | Viral carcinogenesis | 43/1053 | 204/8465 | 3.02e-04 | 3.07e-03 | 2.04e-03 | 43 |
| hsa052026 | Lung | IAC | Transcriptional misregulation in cancer | 40/1053 | 193/8465 | 6.90e-04 | 5.90e-03 | 3.92e-03 | 40 |
| hsa0520311 | Lung | IAC | Viral carcinogenesis | 43/1053 | 204/8465 | 3.02e-04 | 3.07e-03 | 2.04e-03 | 43 |
| hsa0520211 | Lung | IAC | Transcriptional misregulation in cancer | 40/1053 | 193/8465 | 6.90e-04 | 5.90e-03 | 3.92e-03 | 40 |
| hsa052022 | Lung | AIS | Transcriptional misregulation in cancer | 39/961 | 193/8465 | 2.15e-04 | 2.41e-03 | 1.54e-03 | 39 |
| hsa0520321 | Lung | AIS | Viral carcinogenesis | 37/961 | 204/8465 | 2.49e-03 | 1.49e-02 | 9.55e-03 | 37 |
| hsa052023 | Lung | AIS | Transcriptional misregulation in cancer | 39/961 | 193/8465 | 2.15e-04 | 2.41e-03 | 1.54e-03 | 39 |
| hsa0520331 | Lung | AIS | Viral carcinogenesis | 37/961 | 204/8465 | 2.49e-03 | 1.49e-02 | 9.55e-03 | 37 |
| Page: 1 2 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| REL | INCAF | Colorectum | Healthy | NFATC1,ACSL4,FAM177A1, etc. | 1.46e-01 |  |
| REL | QUIE | Esophagus | ESCC | TNFAIP3,SKIL,PNRC1, etc. | 9.27e-02 |  |
| REL | DIFF | Esophagus | Healthy | BCAR3,PXN,SRF, etc. | 1.09e-01 |  |
| REL | AT2 | Lung | IAC | EML4,MAP3K8,CHD1, etc. | 1.81e-01 |  |
| ∗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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| REL | SNV | Missense_Mutation | rs144119768 | c.1319C>T | p.Ser440Leu | p.S440L | Q04864 | protein_coding | tolerated(0.07) | benign(0.32) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| REL | SNV | Missense_Mutation | novel | c.37A>C | p.Ile13Leu | p.I13L | Q04864 | protein_coding | tolerated(0.07) | benign(0.012) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| REL | SNV | Missense_Mutation | c.134N>A | p.Arg45Gln | p.R45Q | Q04864 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| REL | SNV | Missense_Mutation | novel | c.655N>T | p.Arg219Cys | p.R219C | Q04864 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| REL | SNV | Missense_Mutation | novel | c.1847T>G | p.Phe616Cys | p.F616C | Q04864 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.87) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
| REL | SNV | Missense_Mutation | novel | c.353C>T | p.Ala118Val | p.A118V | Q04864 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| REL | SNV | Missense_Mutation | novel | c.1013T>G | p.Ile338Ser | p.I338S | Q04864 | protein_coding | tolerated(0.16) | benign(0.001) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| REL | SNV | Missense_Mutation | novel | c.1562A>C | p.Asn521Thr | p.N521T | Q04864 | protein_coding | tolerated_low_confidence(0.08) | benign(0.057) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
| REL | SNV | Missense_Mutation | novel | c.1573N>G | p.Asn525Asp | p.N525D | Q04864 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.475) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| REL | insertion | Frame_Shift_Ins | novel | c.400_401insA | p.Gln136ThrfsTer4 | p.Q136Tfs*4 | Q04864 | protein_coding | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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