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Gene: RILPL2 |
Gene summary for RILPL2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RILPL2 | Gene ID | 196383 |
| Gene name | Rab interacting lysosomal protein like 2 | |
| Gene Alias | RLP2 | |
| Cytomap | 12q24.31 | |
| Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | Q969X0 |
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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 |
| 196383 | RILPL2 | LZE4T | Human | Esophagus | ESCC | 8.50e-05 | 1.61e-02 | 0.0811 |
| 196383 | RILPL2 | LZE7T | Human | Esophagus | ESCC | 1.08e-04 | 3.25e-01 | 0.0667 |
| 196383 | RILPL2 | LZE8T | Human | Esophagus | ESCC | 6.19e-07 | 8.80e-02 | 0.067 |
| 196383 | RILPL2 | LZE22T | Human | Esophagus | ESCC | 4.21e-05 | 2.49e-01 | 0.068 |
| 196383 | RILPL2 | LZE24T | Human | Esophagus | ESCC | 4.60e-12 | 2.49e-01 | 0.0596 |
| 196383 | RILPL2 | LZE21T | Human | Esophagus | ESCC | 1.05e-02 | 1.77e-01 | 0.0655 |
| 196383 | RILPL2 | LZE6T | Human | Esophagus | ESCC | 1.26e-02 | 3.75e-02 | 0.0845 |
| 196383 | RILPL2 | P1T-E | Human | Esophagus | ESCC | 1.04e-06 | 2.49e-01 | 0.0875 |
| 196383 | RILPL2 | P2T-E | Human | Esophagus | ESCC | 2.21e-53 | 8.69e-01 | 0.1177 |
| 196383 | RILPL2 | P4T-E | Human | Esophagus | ESCC | 3.59e-17 | 4.58e-01 | 0.1323 |
| 196383 | RILPL2 | P5T-E | Human | Esophagus | ESCC | 4.16e-06 | 6.76e-02 | 0.1327 |
| 196383 | RILPL2 | P8T-E | Human | Esophagus | ESCC | 1.60e-33 | 6.35e-01 | 0.0889 |
| 196383 | RILPL2 | P9T-E | Human | Esophagus | ESCC | 6.51e-05 | 1.05e-01 | 0.1131 |
| 196383 | RILPL2 | P10T-E | Human | Esophagus | ESCC | 2.54e-18 | 2.59e-01 | 0.116 |
| 196383 | RILPL2 | P11T-E | Human | Esophagus | ESCC | 8.49e-03 | 8.50e-02 | 0.1426 |
| 196383 | RILPL2 | P12T-E | Human | Esophagus | ESCC | 4.54e-10 | 2.01e-01 | 0.1122 |
| 196383 | RILPL2 | P15T-E | Human | Esophagus | ESCC | 2.09e-17 | 2.44e-01 | 0.1149 |
| 196383 | RILPL2 | P16T-E | Human | Esophagus | ESCC | 6.83e-21 | 2.19e-01 | 0.1153 |
| 196383 | RILPL2 | P19T-E | Human | Esophagus | ESCC | 2.66e-05 | 3.79e-01 | 0.1662 |
| 196383 | RILPL2 | P20T-E | Human | Esophagus | ESCC | 9.71e-28 | 4.23e-01 | 0.1124 |
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| 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 | ||
| 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:0090150110 | Esophagus | ESCC | establishment of protein localization to membrane | 182/8552 | 260/18723 | 1.27e-15 | 8.19e-14 | 182 |
| GO:0072659110 | Esophagus | ESCC | protein localization to plasma membrane | 193/8552 | 284/18723 | 1.95e-14 | 1.03e-12 | 193 |
| GO:199077819 | Esophagus | ESCC | protein localization to cell periphery | 217/8552 | 333/18723 | 4.08e-13 | 1.88e-11 | 217 |
| GO:000206420 | Esophagus | ESCC | epithelial cell development | 136/8552 | 220/18723 | 9.50e-07 | 1.21e-05 | 136 |
| GO:006195114 | Esophagus | ESCC | establishment of protein localization to plasma membrane | 44/8552 | 60/18723 | 1.25e-05 | 1.15e-04 | 44 |
| GO:00033824 | Esophagus | ESCC | epithelial cell morphogenesis | 22/8552 | 33/18723 | 1.22e-02 | 4.08e-02 | 22 |
| GO:009015018 | Oral cavity | OSCC | establishment of protein localization to membrane | 163/7305 | 260/18723 | 7.13e-15 | 4.47e-13 | 163 |
| GO:007265918 | Oral cavity | OSCC | protein localization to plasma membrane | 169/7305 | 284/18723 | 1.69e-12 | 7.21e-11 | 169 |
| GO:199077816 | Oral cavity | OSCC | protein localization to cell periphery | 190/7305 | 333/18723 | 1.46e-11 | 5.13e-10 | 190 |
| GO:000206419 | Oral cavity | OSCC | epithelial cell development | 116/7305 | 220/18723 | 2.34e-05 | 2.21e-04 | 116 |
| GO:00619518 | Oral cavity | OSCC | establishment of protein localization to plasma membrane | 39/7305 | 60/18723 | 4.07e-05 | 3.53e-04 | 39 |
| GO:009015019 | Oral cavity | LP | establishment of protein localization to membrane | 128/4623 | 260/18723 | 7.19e-18 | 1.19e-15 | 128 |
| GO:007265919 | Oral cavity | LP | protein localization to plasma membrane | 119/4623 | 284/18723 | 1.11e-10 | 6.44e-09 | 119 |
| GO:199077817 | Oral cavity | LP | protein localization to cell periphery | 133/4623 | 333/18723 | 4.42e-10 | 2.21e-08 | 133 |
| GO:006195113 | Oral cavity | LP | establishment of protein localization to plasma membrane | 27/4623 | 60/18723 | 4.71e-04 | 4.43e-03 | 27 |
| GO:007265924 | Oral cavity | EOLP | protein localization to plasma membrane | 59/2218 | 284/18723 | 1.07e-05 | 1.91e-04 | 59 |
| GO:199077823 | Oral cavity | EOLP | protein localization to cell periphery | 65/2218 | 333/18723 | 3.17e-05 | 4.48e-04 | 65 |
| GO:0002064110 | Oral cavity | EOLP | epithelial cell development | 43/2218 | 220/18723 | 6.25e-04 | 5.23e-03 | 43 |
| GO:006195121 | Oral cavity | EOLP | establishment of protein localization to plasma membrane | 16/2218 | 60/18723 | 1.29e-03 | 9.18e-03 | 16 |
| GO:009015022 | Oral cavity | EOLP | establishment of protein localization to membrane | 45/2218 | 260/18723 | 5.73e-03 | 2.94e-02 | 45 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| ∗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 |
| RILPL2 | SNV | Missense_Mutation | novel | c.217N>A | p.Glu73Lys | p.E73K | Q969X0 | protein_coding | deleterious(0.03) | probably_damaging(0.96) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD |
| RILPL2 | SNV | Missense_Mutation | novel | c.76N>C | p.Glu26Gln | p.E26Q | Q969X0 | protein_coding | deleterious(0.03) | possibly_damaging(0.52) | TCGA-VS-A9V3-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
| RILPL2 | insertion | Nonsense_Mutation | novel | c.262_263insCAGCAAGTT | p.Glu88delinsAlaAlaSerTer | p.E88delinsAAS* | Q969X0 | protein_coding | TCGA-C5-A1M5-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | ||
| RILPL2 | insertion | Frame_Shift_Ins | novel | c.260_261insAGAGAAGGAAATAAAACCT | p.Leu89LysfsTer42 | p.L89Kfs*42 | Q969X0 | protein_coding | TCGA-C5-A1M5-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | ||
| RILPL2 | SNV | Missense_Mutation | rs753404340 | c.433N>T | p.Arg145Cys | p.R145C | Q969X0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-2682-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5 | PD |
| RILPL2 | SNV | Missense_Mutation | c.16G>A | p.Val6Met | p.V6M | Q969X0 | protein_coding | tolerated_low_confidence(0.05) | benign(0.127) | TCGA-AA-3941-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| RILPL2 | SNV | Missense_Mutation | novel | c.286C>T | p.Leu96Phe | p.L96F | Q969X0 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RILPL2 | insertion | Frame_Shift_Ins | novel | c.386_387insA | p.Asn129LysfsTer57 | p.N129Kfs*57 | Q969X0 | protein_coding | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
| RILPL2 | SNV | Missense_Mutation | c.601A>C | p.Lys201Gln | p.K201Q | Q969X0 | protein_coding | tolerated(0.05) | possibly_damaging(0.84) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| RILPL2 | SNV | Missense_Mutation | novel | c.363N>A | p.Met121Ile | p.M121I | Q969X0 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | 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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