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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.531G>T | p.Trp177Cys | p.W177C | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CV-7245-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RHBDD1 | insertion | Frame_Shift_Ins | novel | c.804_805insTTGTTTTATACTTCCTGTTTTGTATA | p.Ser269LeufsTer9 | p.S269Lfs*9 | Q8TEB9 | protein_coding | TCGA-H7-8502-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | unknown | SD | ||
RHBDD1 | SNV | Missense_Mutation | c.421N>A | p.Val141Ile | p.V141I | Q8TEB9 | protein_coding | tolerated(0.11) | benign(0.309) | TCGA-BR-6452-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RHBDD1 | SNV | Missense_Mutation | c.242N>C | p.Leu81Ser | p.L81S | Q8TEB9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D7-5578-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
RHBDD1 | SNV | Missense_Mutation | novel | c.694T>C | p.Tyr232His | p.Y232H | Q8TEB9 | protein_coding | tolerated(0.43) | benign(0) | TCGA-HU-A4GU-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
RHBDD1 | deletion | Frame_Shift_Del | novel | c.189delA | p.Asp64ThrfsTer30 | p.D64Tfs*30 | Q8TEB9 | protein_coding | TCGA-BR-7851-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
RHBDD1 | deletion | Frame_Shift_Del | rs765161134 | c.681delN | p.Pro228GlnfsTer41 | p.P228Qfs*41 | Q8TEB9 | protein_coding | TCGA-BR-A4PE-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
RHBDD1 | deletion | Frame_Shift_Del | novel | c.664delT | p.Ser222ProfsTer47 | p.S222Pfs*47 | Q8TEB9 | protein_coding | TCGA-HU-A4GQ-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | ||
RHBDD1 | insertion | Frame_Shift_Ins | novel | c.376_377insGTAACAC | p.Val126GlyfsTer9 | p.V126Gfs*9 | Q8TEB9 | protein_coding | TCGA-FY-A4B0-01 | Thyroid | thyroid carcinoma | Male | >=65 | I/II | Hormone Therapy | synthroid | SD | ||
RHBDD1 | insertion | In_Frame_Ins | novel | c.378_379insCTCCACACTAAG | p.Val126_Ala127insLeuHisThrLys | p.V126_A127insLHTK | Q8TEB9 | protein_coding | TCGA-FY-A4B0-01 | Thyroid | thyroid carcinoma | Male | >=65 | I/II | Hormone Therapy | synthroid | SD |
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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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