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Gene: RHBDD1 |
Gene summary for RHBDD1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RHBDD1 | Gene ID | 84236 |
| Gene name | rhomboid domain containing 1 | |
| Gene Alias | RHBDL4 | |
| Cytomap | 2q36.3 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A024R455 |
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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 |
| 84236 | RHBDD1 | CCI_2 | Human | Cervix | CC | 6.90e-08 | 6.08e-01 | 0.5249 |
| 84236 | RHBDD1 | CCI_3 | Human | Cervix | CC | 1.07e-08 | 5.27e-01 | 0.516 |
| 84236 | RHBDD1 | HTA12-25-1 | Human | Pancreas | PDAC | 4.10e-05 | 4.77e-01 | 0.313 |
| 84236 | RHBDD1 | HTA12-26-1 | Human | Pancreas | PDAC | 2.11e-10 | 6.10e-01 | 0.3728 |
| 84236 | RHBDD1 | HTA12-29-1 | Human | Pancreas | PDAC | 1.06e-21 | 5.37e-01 | 0.3722 |
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| 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 |
| ∗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:004586210 | Cervix | CC | positive regulation of proteolysis | 95/2311 | 372/18723 | 1.84e-12 | 6.86e-10 | 95 |
| GO:001049810 | Cervix | CC | proteasomal protein catabolic process | 111/2311 | 490/18723 | 8.98e-11 | 1.58e-08 | 111 |
| GO:003497610 | Cervix | CC | response to endoplasmic reticulum stress | 57/2311 | 256/18723 | 5.81e-06 | 1.42e-04 | 57 |
| GO:000698610 | Cervix | CC | response to unfolded protein | 36/2311 | 137/18723 | 6.83e-06 | 1.63e-04 | 36 |
| GO:00712148 | Cervix | CC | cellular response to abiotic stimulus | 69/2311 | 331/18723 | 7.36e-06 | 1.73e-04 | 69 |
| GO:01040048 | Cervix | CC | cellular response to environmental stimulus | 69/2311 | 331/18723 | 7.36e-06 | 1.73e-04 | 69 |
| GO:003596610 | Cervix | CC | response to topologically incorrect protein | 39/2311 | 159/18723 | 1.68e-05 | 3.22e-04 | 39 |
| GO:003462010 | Cervix | CC | cellular response to unfolded protein | 27/2311 | 96/18723 | 2.53e-05 | 4.29e-04 | 27 |
| GO:00093149 | Cervix | CC | response to radiation | 86/2311 | 456/18723 | 3.50e-05 | 5.63e-04 | 86 |
| GO:003596710 | Cervix | CC | cellular response to topologically incorrect protein | 29/2311 | 116/18723 | 1.35e-04 | 1.66e-03 | 29 |
| GO:00714786 | Cervix | CC | cellular response to radiation | 41/2311 | 186/18723 | 1.41e-04 | 1.71e-03 | 41 |
| GO:00094112 | Cervix | CC | response to UV | 33/2311 | 149/18723 | 5.51e-04 | 5.29e-03 | 33 |
| GO:00516048 | Cervix | CC | protein maturation | 56/2311 | 294/18723 | 5.90e-04 | 5.59e-03 | 56 |
| GO:00346442 | Cervix | CC | cellular response to UV | 20/2311 | 90/18723 | 6.05e-03 | 3.44e-02 | 20 |
| GO:00094163 | Cervix | CC | response to light stimulus | 54/2311 | 320/18723 | 1.03e-02 | 4.97e-02 | 54 |
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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 |
| RHBDD1 | SNV | Missense_Mutation | novel | c.117C>G | p.Ile39Met | p.I39M | Q8TEB9 | protein_coding | deleterious(0) | benign(0.021) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| RHBDD1 | SNV | Missense_Mutation | c.293N>C | p.Arg98Thr | p.R98T | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(0.928) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD | |
| RHBDD1 | insertion | Nonsense_Mutation | novel | c.482_483insTTTCCCTGATATCTGGCCATGCAACGGAGATCAAGAGGGATAAATA | p.Val163ProfsTer13 | p.V163Pfs*13 | Q8TEB9 | protein_coding | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | ||
| RHBDD1 | SNV | Missense_Mutation | rs772800223 | c.535G>A | p.Glu179Lys | p.E179K | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| RHBDD1 | SNV | Missense_Mutation | novel | c.429C>G | p.Phe143Leu | p.F143L | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A8XK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| RHBDD1 | SNV | Missense_Mutation | rs139799015 | c.341T>G | p.Leu114Arg | p.L114R | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-EA-A556-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| RHBDD1 | SNV | Missense_Mutation | c.424N>A | p.Gly142Ser | p.G142S | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-4T-AA8H-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| RHBDD1 | SNV | Missense_Mutation | c.583N>T | p.His195Tyr | p.H195Y | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR | |
| RHBDD1 | SNV | Missense_Mutation | c.361C>T | p.Leu121Phe | p.L121F | Q8TEB9 | protein_coding | tolerated(0.31) | benign(0.006) | TCGA-AY-6196-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
| RHBDD1 | SNV | Missense_Mutation | rs745642950 | c.290N>T | p.Arg97Ile | p.R97I | Q8TEB9 | protein_coding | deleterious(0) | possibly_damaging(0.772) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <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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