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Gene: RELL2 |
Gene summary for RELL2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RELL2 | Gene ID | 285613 |
| Gene name | RELT like 2 | |
| Gene Alias | C5orf16 | |
| Cytomap | 5q31.3 | |
| Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | Q8NC24 |
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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 |
| 285613 | RELL2 | LZE24T | Human | Esophagus | ESCC | 1.47e-07 | 1.72e-01 | 0.0596 |
| 285613 | RELL2 | P2T-E | Human | Esophagus | ESCC | 3.58e-02 | 6.49e-02 | 0.1177 |
| 285613 | RELL2 | P4T-E | Human | Esophagus | ESCC | 2.71e-04 | 1.64e-01 | 0.1323 |
| 285613 | RELL2 | P5T-E | Human | Esophagus | ESCC | 1.67e-03 | 1.24e-01 | 0.1327 |
| 285613 | RELL2 | P9T-E | Human | Esophagus | ESCC | 6.71e-07 | 1.29e-01 | 0.1131 |
| 285613 | RELL2 | P12T-E | Human | Esophagus | ESCC | 5.52e-11 | 2.02e-01 | 0.1122 |
| 285613 | RELL2 | P15T-E | Human | Esophagus | ESCC | 5.02e-06 | 1.51e-01 | 0.1149 |
| 285613 | RELL2 | P16T-E | Human | Esophagus | ESCC | 9.20e-08 | 1.15e-01 | 0.1153 |
| 285613 | RELL2 | P20T-E | Human | Esophagus | ESCC | 4.16e-13 | 3.18e-01 | 0.1124 |
| 285613 | RELL2 | P21T-E | Human | Esophagus | ESCC | 1.37e-07 | 1.17e-01 | 0.1617 |
| 285613 | RELL2 | P22T-E | Human | Esophagus | ESCC | 2.22e-03 | 8.74e-02 | 0.1236 |
| 285613 | RELL2 | P23T-E | Human | Esophagus | ESCC | 6.75e-10 | 2.22e-01 | 0.108 |
| 285613 | RELL2 | P24T-E | Human | Esophagus | ESCC | 3.04e-03 | 7.56e-02 | 0.1287 |
| 285613 | RELL2 | P26T-E | Human | Esophagus | ESCC | 7.07e-10 | 9.97e-02 | 0.1276 |
| 285613 | RELL2 | P27T-E | Human | Esophagus | ESCC | 4.68e-02 | 9.25e-02 | 0.1055 |
| 285613 | RELL2 | P28T-E | Human | Esophagus | ESCC | 1.98e-07 | 2.06e-01 | 0.1149 |
| 285613 | RELL2 | P30T-E | Human | Esophagus | ESCC | 5.18e-05 | 1.69e-01 | 0.137 |
| 285613 | RELL2 | P31T-E | Human | Esophagus | ESCC | 4.10e-05 | 1.38e-01 | 0.1251 |
| 285613 | RELL2 | P32T-E | Human | Esophagus | ESCC | 2.85e-03 | 1.13e-01 | 0.1666 |
| 285613 | RELL2 | P36T-E | Human | Esophagus | ESCC | 7.88e-05 | 2.11e-01 | 0.1187 |
| Page: 1 2 3 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:003158919 | Esophagus | ESCC | cell-substrate adhesion | 221/8552 | 363/18723 | 3.06e-09 | 6.62e-08 | 221 |
| GO:001081020 | Esophagus | ESCC | regulation of cell-substrate adhesion | 144/8552 | 221/18723 | 3.55e-09 | 7.45e-08 | 144 |
| GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
| GO:003109818 | Esophagus | ESCC | stress-activated protein kinase signaling cascade | 154/8552 | 247/18723 | 8.53e-08 | 1.44e-06 | 154 |
| GO:001081126 | Esophagus | ESCC | positive regulation of cell-substrate adhesion | 84/8552 | 123/18723 | 3.18e-07 | 4.50e-06 | 84 |
| GO:005140318 | Esophagus | ESCC | stress-activated MAPK cascade | 147/8552 | 239/18723 | 5.43e-07 | 7.18e-06 | 147 |
| GO:007030217 | Esophagus | ESCC | regulation of stress-activated protein kinase signaling cascade | 119/8552 | 195/18723 | 1.07e-05 | 1.01e-04 | 119 |
| GO:003287217 | Esophagus | ESCC | regulation of stress-activated MAPK cascade | 116/8552 | 192/18723 | 2.63e-05 | 2.21e-04 | 116 |
| GO:00703046 | Esophagus | ESCC | positive regulation of stress-activated protein kinase signaling cascade | 74/8552 | 128/18723 | 3.77e-03 | 1.53e-02 | 74 |
| GO:00328745 | Esophagus | ESCC | positive regulation of stress-activated MAPK cascade | 72/8552 | 126/18723 | 6.24e-03 | 2.29e-02 | 72 |
| GO:003109816 | Oral cavity | OSCC | stress-activated protein kinase signaling cascade | 141/7305 | 247/18723 | 5.74e-09 | 1.25e-07 | 141 |
| GO:003158917 | Oral cavity | OSCC | cell-substrate adhesion | 193/7305 | 363/18723 | 2.48e-08 | 4.82e-07 | 193 |
| GO:001081019 | Oral cavity | OSCC | regulation of cell-substrate adhesion | 126/7305 | 221/18723 | 4.02e-08 | 7.55e-07 | 126 |
| GO:005140316 | Oral cavity | OSCC | stress-activated MAPK cascade | 134/7305 | 239/18723 | 6.02e-08 | 1.09e-06 | 134 |
| GO:004578520 | Oral cavity | OSCC | positive regulation of cell adhesion | 225/7305 | 437/18723 | 6.06e-08 | 1.09e-06 | 225 |
| GO:007030210 | Oral cavity | OSCC | regulation of stress-activated protein kinase signaling cascade | 111/7305 | 195/18723 | 2.82e-07 | 4.34e-06 | 111 |
| GO:003287210 | Oral cavity | OSCC | regulation of stress-activated MAPK cascade | 108/7305 | 192/18723 | 8.97e-07 | 1.22e-05 | 108 |
| GO:001081120 | Oral cavity | OSCC | positive regulation of cell-substrate adhesion | 71/7305 | 123/18723 | 1.96e-05 | 1.87e-04 | 71 |
| GO:00703045 | Oral cavity | OSCC | positive regulation of stress-activated protein kinase signaling cascade | 66/7305 | 128/18723 | 2.58e-03 | 1.13e-02 | 66 |
| GO:00328744 | Oral cavity | OSCC | positive regulation of stress-activated MAPK cascade | 64/7305 | 126/18723 | 4.67e-03 | 1.87e-02 | 64 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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 |
| ∗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 |
| RELL2 | insertion | Frame_Shift_Ins | novel | c.584_585insCAACATGGGCTATATATGCTCTTCCTGCTTGTGCTGGTCT | p.Gly196AsnfsTer43 | p.G196Nfs*43 | Q8NC24 | protein_coding | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | ||
| RELL2 | SNV | Missense_Mutation | c.673N>A | p.Glu225Lys | p.E225K | Q8NC24 | protein_coding | deleterious_low_confidence(0) | benign(0.037) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| RELL2 | SNV | Missense_Mutation | novel | c.646N>G | p.Met216Val | p.M216V | Q8NC24 | protein_coding | tolerated(0.54) | benign(0) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| RELL2 | SNV | Missense_Mutation | c.862G>A | p.Asp288Asn | p.D288N | Q8NC24 | protein_coding | deleterious_low_confidence(0.04) | possibly_damaging(0.651) | TCGA-AA-3837-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| RELL2 | SNV | Missense_Mutation | rs751205892 | c.433N>T | p.Arg145Cys | p.R145C | Q8NC24 | protein_coding | deleterious(0) | benign(0.047) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RELL2 | SNV | Missense_Mutation | c.187N>A | p.Glu63Lys | p.E63K | Q8NC24 | protein_coding | tolerated(0.12) | benign(0.034) | TCGA-AZ-6599-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| RELL2 | SNV | Missense_Mutation | novel | c.875A>G | p.His292Arg | p.H292R | Q8NC24 | protein_coding | tolerated_low_confidence(0.07) | benign(0.01) | TCGA-CK-5916-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| RELL2 | SNV | Missense_Mutation | novel | c.58C>A | p.Leu20Met | p.L20M | Q8NC24 | protein_coding | deleterious(0.05) | probably_damaging(1) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| RELL2 | SNV | Missense_Mutation | c.52N>T | p.Leu18Phe | p.L18F | Q8NC24 | protein_coding | deleterious(0.02) | probably_damaging(0.994) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| RELL2 | SNV | Missense_Mutation | rs375807322 | c.749N>A | p.Arg250His | p.R250H | Q8NC24 | protein_coding | tolerated_low_confidence(0.26) | benign(0.009) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
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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 |
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