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Gene: RHBDL2 |
Gene summary for RHBDL2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | RHBDL2 | Gene ID | 54933 |
Gene name | rhomboid like 2 | |
Gene Alias | RRP2 | |
Cytomap | 1p34.3 | |
Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | B7Z1Y9 |
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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 |
54933 | RHBDL2 | CA_HPV_2 | Human | Cervix | CC | 1.47e-02 | 2.00e-01 | 0.0391 |
54933 | RHBDL2 | CCI_1 | Human | Cervix | CC | 1.09e-07 | 6.71e-01 | 0.528 |
54933 | RHBDL2 | CCI_3 | Human | Cervix | CC | 4.20e-09 | 7.51e-01 | 0.516 |
54933 | RHBDL2 | Tumor | Human | Cervix | CC | 1.05e-17 | 4.26e-01 | 0.1241 |
54933 | RHBDL2 | sample3 | Human | Cervix | CC | 2.41e-28 | 4.95e-01 | 0.1387 |
54933 | RHBDL2 | T3 | Human | Cervix | CC | 7.54e-29 | 4.82e-01 | 0.1389 |
54933 | RHBDL2 | LZE4T | Human | Esophagus | ESCC | 7.78e-03 | 8.09e-02 | 0.0811 |
54933 | RHBDL2 | LZE8T | Human | Esophagus | ESCC | 8.52e-07 | 1.71e-01 | 0.067 |
54933 | RHBDL2 | LZE20T | Human | Esophagus | ESCC | 2.21e-03 | 1.68e-01 | 0.0662 |
54933 | RHBDL2 | LZE22T | Human | Esophagus | ESCC | 2.92e-06 | 3.44e-01 | 0.068 |
54933 | RHBDL2 | LZE24T | Human | Esophagus | ESCC | 4.72e-06 | 1.52e-01 | 0.0596 |
54933 | RHBDL2 | P1T-E | Human | Esophagus | ESCC | 2.10e-09 | 3.12e-01 | 0.0875 |
54933 | RHBDL2 | P2T-E | Human | Esophagus | ESCC | 1.31e-09 | 1.54e-01 | 0.1177 |
54933 | RHBDL2 | P4T-E | Human | Esophagus | ESCC | 4.37e-07 | 1.31e-01 | 0.1323 |
54933 | RHBDL2 | P5T-E | Human | Esophagus | ESCC | 8.40e-04 | 9.16e-02 | 0.1327 |
54933 | RHBDL2 | P8T-E | Human | Esophagus | ESCC | 8.40e-04 | 1.41e-01 | 0.0889 |
54933 | RHBDL2 | P9T-E | Human | Esophagus | ESCC | 1.66e-03 | 5.42e-02 | 0.1131 |
54933 | RHBDL2 | P11T-E | Human | Esophagus | ESCC | 9.20e-07 | 2.76e-01 | 0.1426 |
54933 | RHBDL2 | P20T-E | Human | Esophagus | ESCC | 4.97e-06 | 1.15e-01 | 0.1124 |
54933 | RHBDL2 | P21T-E | Human | Esophagus | ESCC | 2.08e-40 | 7.03e-01 | 0.1617 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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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. |
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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 |
RHBDL2 | SNV | Missense_Mutation | c.230C>G | p.Ser77Cys | p.S77C | Q9NX52 | protein_coding | tolerated(0.12) | benign(0.001) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
RHBDL2 | SNV | Missense_Mutation | novel | c.13N>G | p.His5Asp | p.H5D | Q9NX52 | protein_coding | tolerated_low_confidence(0.16) | benign(0.01) | TCGA-VS-A94X-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
RHBDL2 | SNV | Missense_Mutation | rs865873988 | c.115C>T | p.Arg39Trp | p.R39W | Q9NX52 | protein_coding | deleterious(0.04) | benign(0.183) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RHBDL2 | SNV | Missense_Mutation | c.379A>G | p.Met127Val | p.M127V | Q9NX52 | protein_coding | deleterious(0) | possibly_damaging(0.783) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
RHBDL2 | SNV | Missense_Mutation | rs201268891 | c.11T>C | p.Val4Ala | p.V4A | Q9NX52 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RHBDL2 | SNV | Missense_Mutation | rs746786439 | c.811N>A | p.Ala271Thr | p.A271T | Q9NX52 | protein_coding | tolerated(0.23) | benign(0) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RHBDL2 | SNV | Missense_Mutation | novel | c.851C>T | p.Ala284Val | p.A284V | Q9NX52 | protein_coding | tolerated(0.94) | benign(0.055) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RHBDL2 | SNV | Missense_Mutation | rs749190576 | c.299C>T | p.Thr100Met | p.T100M | Q9NX52 | protein_coding | deleterious(0) | possibly_damaging(0.87) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RHBDL2 | SNV | Missense_Mutation | novel | c.140N>T | p.Arg47Met | p.R47M | Q9NX52 | protein_coding | deleterious(0.05) | benign(0.254) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RHBDL2 | SNV | Missense_Mutation | rs865873988 | c.115N>T | p.Arg39Trp | p.R39W | Q9NX52 | protein_coding | deleterious(0.04) | benign(0.183) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | 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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