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Gene: RHBDD2 |
Gene summary for RHBDD2 |
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Gene information | Species | Human | Gene symbol | RHBDD2 | Gene ID | 57414 |
Gene name | rhomboid domain containing 2 | |
Gene Alias | NPD007 | |
Cytomap | 7q11.23 | |
Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q6NTF9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57414 | RHBDD2 | S014 | Human | Liver | HCC | 9.87e-41 | 1.95e+00 | 0.2254 |
57414 | RHBDD2 | S015 | Human | Liver | HCC | 5.22e-43 | 2.25e+00 | 0.2375 |
57414 | RHBDD2 | S016 | Human | Liver | HCC | 5.52e-46 | 1.97e+00 | 0.2243 |
57414 | RHBDD2 | S027 | Human | Liver | HCC | 1.59e-11 | 1.18e+00 | 0.2446 |
57414 | RHBDD2 | S028 | Human | Liver | HCC | 2.22e-33 | 1.48e+00 | 0.2503 |
57414 | RHBDD2 | S029 | Human | Liver | HCC | 2.31e-28 | 1.41e+00 | 0.2581 |
57414 | RHBDD2 | C04 | Human | Oral cavity | OSCC | 1.89e-33 | 1.50e+00 | 0.2633 |
57414 | RHBDD2 | C21 | Human | Oral cavity | OSCC | 1.02e-70 | 1.97e+00 | 0.2678 |
57414 | RHBDD2 | C30 | Human | Oral cavity | OSCC | 1.16e-59 | 2.43e+00 | 0.3055 |
57414 | RHBDD2 | C38 | Human | Oral cavity | OSCC | 3.45e-26 | 2.12e+00 | 0.172 |
57414 | RHBDD2 | C43 | Human | Oral cavity | OSCC | 1.43e-43 | 8.37e-01 | 0.1704 |
57414 | RHBDD2 | C46 | Human | Oral cavity | OSCC | 1.88e-50 | 1.04e+00 | 0.1673 |
57414 | RHBDD2 | C51 | Human | Oral cavity | OSCC | 5.51e-28 | 1.33e+00 | 0.2674 |
57414 | RHBDD2 | C57 | Human | Oral cavity | OSCC | 4.37e-34 | 9.30e-01 | 0.1679 |
57414 | RHBDD2 | C06 | Human | Oral cavity | OSCC | 5.53e-13 | 1.39e+00 | 0.2699 |
57414 | RHBDD2 | C07 | Human | Oral cavity | OSCC | 4.35e-06 | 1.12e+00 | 0.2491 |
57414 | RHBDD2 | C08 | Human | Oral cavity | OSCC | 2.46e-78 | 1.77e+00 | 0.1919 |
57414 | RHBDD2 | C09 | Human | Oral cavity | OSCC | 3.43e-31 | 9.27e-01 | 0.1431 |
57414 | RHBDD2 | LN22 | Human | Oral cavity | OSCC | 2.93e-10 | 1.14e+00 | 0.1733 |
57414 | RHBDD2 | LN38 | Human | Oral cavity | OSCC | 3.59e-09 | 1.48e+00 | 0.168 |
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∗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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0010498 | Colorectum | AD | proteasomal protein catabolic process | 174/3918 | 490/18723 | 3.18e-14 | 7.66e-12 | 174 |
GO:0043161 | Colorectum | AD | proteasome-mediated ubiquitin-dependent protein catabolic process | 141/3918 | 412/18723 | 1.77e-10 | 1.68e-08 | 141 |
GO:0034976 | Colorectum | AD | response to endoplasmic reticulum stress | 90/3918 | 256/18723 | 8.48e-08 | 4.28e-06 | 90 |
GO:0035966 | Colorectum | AD | response to topologically incorrect protein | 54/3918 | 159/18723 | 8.85e-05 | 1.36e-03 | 54 |
GO:0035967 | Colorectum | AD | cellular response to topologically incorrect protein | 42/3918 | 116/18723 | 1.04e-04 | 1.56e-03 | 42 |
GO:0006986 | Colorectum | AD | response to unfolded protein | 45/3918 | 137/18723 | 7.43e-04 | 7.48e-03 | 45 |
GO:0034620 | Colorectum | AD | cellular response to unfolded protein | 33/3918 | 96/18723 | 1.53e-03 | 1.29e-02 | 33 |
GO:0036503 | Colorectum | AD | ERAD pathway | 34/3918 | 107/18723 | 5.57e-03 | 3.63e-02 | 34 |
GO:00104981 | Colorectum | SER | proteasomal protein catabolic process | 132/2897 | 490/18723 | 3.08e-11 | 5.55e-09 | 132 |
GO:00349761 | Colorectum | SER | response to endoplasmic reticulum stress | 74/2897 | 256/18723 | 3.01e-08 | 2.05e-06 | 74 |
GO:00431611 | Colorectum | SER | proteasome-mediated ubiquitin-dependent protein catabolic process | 105/2897 | 412/18723 | 7.48e-08 | 4.70e-06 | 105 |
GO:00359661 | Colorectum | SER | response to topologically incorrect protein | 46/2897 | 159/18723 | 1.14e-05 | 3.63e-04 | 46 |
GO:00359671 | Colorectum | SER | cellular response to topologically incorrect protein | 36/2897 | 116/18723 | 1.88e-05 | 5.51e-04 | 36 |
GO:00069861 | Colorectum | SER | response to unfolded protein | 38/2897 | 137/18723 | 1.68e-04 | 3.16e-03 | 38 |
GO:00346201 | Colorectum | SER | cellular response to unfolded protein | 28/2897 | 96/18723 | 4.78e-04 | 6.89e-03 | 28 |
GO:00365031 | Colorectum | SER | ERAD pathway | 28/2897 | 107/18723 | 2.92e-03 | 2.59e-02 | 28 |
GO:00104982 | Colorectum | MSS | proteasomal protein catabolic process | 157/3467 | 490/18723 | 2.39e-13 | 5.25e-11 | 157 |
GO:00431612 | Colorectum | MSS | proteasome-mediated ubiquitin-dependent protein catabolic process | 127/3467 | 412/18723 | 7.70e-10 | 6.32e-08 | 127 |
GO:00349762 | Colorectum | MSS | response to endoplasmic reticulum stress | 81/3467 | 256/18723 | 2.65e-07 | 1.10e-05 | 81 |
GO:00359672 | Colorectum | MSS | cellular response to topologically incorrect protein | 42/3467 | 116/18723 | 4.99e-06 | 1.38e-04 | 42 |
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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 |
RHBDD2 | SNV | Missense_Mutation | novel | c.722N>T | p.Ala241Val | p.A241V | Q6NTF9 | protein_coding | deleterious(0.03) | probably_damaging(0.994) | TCGA-E9-A1RG-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | SD |
RHBDD2 | SNV | Missense_Mutation | rs782231378 | c.293N>A | p.Arg98His | p.R98H | Q6NTF9 | protein_coding | deleterious(0) | probably_damaging(0.949) | TCGA-IR-A3LF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
RHBDD2 | SNV | Missense_Mutation | c.335N>C | p.Ile112Thr | p.I112T | Q6NTF9 | protein_coding | deleterious(0.05) | benign(0.197) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RHBDD2 | SNV | Missense_Mutation | c.154N>C | p.Ser52Pro | p.S52P | Q6NTF9 | protein_coding | tolerated(0.42) | benign(0.007) | TCGA-CK-6746-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RHBDD2 | SNV | Missense_Mutation | c.631G>A | p.Ala211Thr | p.A211T | Q6NTF9 | protein_coding | deleterious(0.01) | benign(0.186) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR | |
RHBDD2 | SNV | Missense_Mutation | novel | c.873G>A | p.Met291Ile | p.M291I | Q6NTF9 | protein_coding | tolerated(0.28) | benign(0.003) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RHBDD2 | SNV | Missense_Mutation | novel | c.907C>A | p.Leu303Met | p.L303M | Q6NTF9 | protein_coding | tolerated(0.07) | benign(0.365) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RHBDD2 | SNV | Missense_Mutation | rs368476168 | c.613N>A | p.Asp205Asn | p.D205N | Q6NTF9 | protein_coding | tolerated(0.05) | benign(0.144) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RHBDD2 | SNV | Missense_Mutation | novel | c.998N>T | p.Pro333Leu | p.P333L | Q6NTF9 | protein_coding | tolerated_low_confidence(0.06) | benign(0) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RHBDD2 | SNV | Missense_Mutation | rs782696848 | c.823N>A | p.Ala275Thr | p.A275T | Q6NTF9 | protein_coding | tolerated(0.63) | benign(0) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | 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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