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Gene: RHBDD1 |
Gene summary for RHBDD1 |
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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 |
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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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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 |
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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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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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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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.704A>C | p.Asn235Thr | p.N235T | Q8TEB9 | protein_coding | tolerated(0.18) | benign(0.033) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RHBDD1 | SNV | Missense_Mutation | novel | c.578N>A | p.Ala193Asp | p.A193D | Q8TEB9 | protein_coding | deleterious(0.01) | possibly_damaging(0.548) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RHBDD1 | SNV | Missense_Mutation | c.229N>A | p.Asp77Asn | p.D77N | Q8TEB9 | protein_coding | tolerated(0.06) | probably_damaging(0.997) | TCGA-KR-A7K8-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
RHBDD1 | SNV | Missense_Mutation | novel | c.810A>T | p.Glu270Asp | p.E270D | Q8TEB9 | protein_coding | tolerated(0.05) | possibly_damaging(0.685) | TCGA-05-4398-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
RHBDD1 | SNV | Missense_Mutation | novel | c.73N>T | p.Asn25Tyr | p.N25Y | Q8TEB9 | protein_coding | deleterious(0.01) | benign(0.302) | TCGA-44-7662-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RHBDD1 | SNV | Missense_Mutation | c.473G>T | p.Cys158Phe | p.C158F | Q8TEB9 | protein_coding | tolerated(0.7) | benign(0.003) | TCGA-44-8117-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
RHBDD1 | SNV | Missense_Mutation | c.692N>C | p.Gln231Pro | p.Q231P | Q8TEB9 | protein_coding | tolerated(0.19) | benign(0.001) | TCGA-18-3414-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
RHBDD1 | SNV | Missense_Mutation | c.842N>T | p.Ser281Ile | p.S281I | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-39-5036-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
RHBDD1 | SNV | Missense_Mutation | novel | c.851A>G | p.Asp284Gly | p.D284G | Q8TEB9 | protein_coding | deleterious(0.04) | benign(0.051) | TCGA-60-2721-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
RHBDD1 | SNV | Missense_Mutation | novel | c.67G>T | p.Gly23Trp | p.G23W | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CN-6010-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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