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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 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.56e-06 | 1.60e-01 | 0.0155 |
57414 | RHBDD2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 5.09e-12 | 3.54e-01 | -0.1808 |
57414 | RHBDD2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 7.42e-06 | 2.71e-01 | -0.0811 |
57414 | RHBDD2 | HTA11_78_2000001011 | Human | Colorectum | AD | 6.83e-03 | 1.79e-01 | -0.1088 |
57414 | RHBDD2 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.72e-10 | 2.43e-01 | -0.1954 |
57414 | RHBDD2 | HTA11_411_2000001011 | Human | Colorectum | SER | 9.92e-10 | 8.05e-01 | -0.2602 |
57414 | RHBDD2 | HTA11_2112_2000001011 | Human | Colorectum | SER | 3.64e-04 | 5.11e-01 | -0.2196 |
57414 | RHBDD2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.83e-07 | 3.70e-01 | -0.1207 |
57414 | RHBDD2 | HTA11_83_2000001011 | Human | Colorectum | SER | 2.98e-02 | 3.11e-01 | -0.1526 |
57414 | RHBDD2 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.91e-14 | 4.41e-01 | -0.1464 |
57414 | RHBDD2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.37e-17 | 5.58e-01 | -0.059 |
57414 | RHBDD2 | HTA11_2992_2000001011 | Human | Colorectum | SER | 2.48e-06 | 4.78e-01 | -0.1706 |
57414 | RHBDD2 | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.16e-06 | 3.15e-01 | -0.2061 |
57414 | RHBDD2 | HTA11_546_2000001011 | Human | Colorectum | AD | 1.20e-06 | 3.40e-01 | -0.0842 |
57414 | RHBDD2 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.84e-07 | 2.87e-01 | 0.096 |
57414 | RHBDD2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.12e-03 | 2.89e-01 | 0.0338 |
57414 | RHBDD2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 5.96e-05 | 2.84e-01 | 0.0674 |
57414 | RHBDD2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.85e-08 | 3.19e-01 | 0.294 |
57414 | RHBDD2 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 3.55e-02 | 4.88e-01 | 0.3487 |
57414 | RHBDD2 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 7.69e-08 | 3.02e-01 | 0.281 |
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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:003596633 | Thyroid | ATC | response to topologically incorrect protein | 102/6293 | 159/18723 | 2.87e-15 | 1.99e-13 | 102 |
GO:000698633 | Thyroid | ATC | response to unfolded protein | 88/6293 | 137/18723 | 2.04e-13 | 9.91e-12 | 88 |
GO:003650322 | Thyroid | ATC | ERAD pathway | 72/6293 | 107/18723 | 1.05e-12 | 4.41e-11 | 72 |
GO:003043322 | Thyroid | ATC | ubiquitin-dependent ERAD pathway | 60/6293 | 85/18723 | 3.38e-12 | 1.38e-10 | 60 |
GO:003596733 | Thyroid | ATC | cellular response to topologically incorrect protein | 74/6293 | 116/18723 | 2.69e-11 | 9.20e-10 | 74 |
GO:003462033 | Thyroid | ATC | cellular response to unfolded protein | 61/6293 | 96/18723 | 1.84e-09 | 4.52e-08 | 61 |
GO:003096823 | Thyroid | ATC | endoplasmic reticulum unfolded protein response | 49/6293 | 74/18723 | 9.75e-09 | 2.03e-07 | 49 |
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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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