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Gene: CYB5D2 |
Gene summary for CYB5D2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CYB5D2 | Gene ID | 124936 |
| Gene name | cytochrome b5 domain containing 2 | |
| Gene Alias | CYB5D2 | |
| Cytomap | 17p13.2 | |
| Gene Type | protein-coding | GO ID | GO:0007275 | UniProtAcc | Q8WUJ1 |
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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 |
| 124936 | CYB5D2 | LZE4T | Human | Esophagus | ESCC | 4.35e-05 | 1.90e-01 | 0.0811 |
| 124936 | CYB5D2 | LZE8T | Human | Esophagus | ESCC | 1.95e-02 | 3.52e-02 | 0.067 |
| 124936 | CYB5D2 | LZE24T | Human | Esophagus | ESCC | 2.70e-13 | 2.33e-01 | 0.0596 |
| 124936 | CYB5D2 | P1T-E | Human | Esophagus | ESCC | 2.81e-02 | 3.06e-01 | 0.0875 |
| 124936 | CYB5D2 | P2T-E | Human | Esophagus | ESCC | 7.62e-06 | 5.35e-02 | 0.1177 |
| 124936 | CYB5D2 | P4T-E | Human | Esophagus | ESCC | 3.80e-12 | 1.58e-01 | 0.1323 |
| 124936 | CYB5D2 | P5T-E | Human | Esophagus | ESCC | 4.81e-03 | -3.26e-02 | 0.1327 |
| 124936 | CYB5D2 | P8T-E | Human | Esophagus | ESCC | 2.94e-06 | 1.17e-01 | 0.0889 |
| 124936 | CYB5D2 | P9T-E | Human | Esophagus | ESCC | 5.41e-14 | 1.25e-01 | 0.1131 |
| 124936 | CYB5D2 | P10T-E | Human | Esophagus | ESCC | 1.25e-12 | 7.07e-02 | 0.116 |
| 124936 | CYB5D2 | P11T-E | Human | Esophagus | ESCC | 1.04e-03 | 1.71e-01 | 0.1426 |
| 124936 | CYB5D2 | P12T-E | Human | Esophagus | ESCC | 1.24e-07 | 1.20e-01 | 0.1122 |
| 124936 | CYB5D2 | P15T-E | Human | Esophagus | ESCC | 6.42e-04 | 1.95e-02 | 0.1149 |
| 124936 | CYB5D2 | P16T-E | Human | Esophagus | ESCC | 1.62e-16 | 3.33e-01 | 0.1153 |
| 124936 | CYB5D2 | P20T-E | Human | Esophagus | ESCC | 5.67e-09 | 1.70e-01 | 0.1124 |
| 124936 | CYB5D2 | P21T-E | Human | Esophagus | ESCC | 2.32e-21 | 1.97e-01 | 0.1617 |
| 124936 | CYB5D2 | P22T-E | Human | Esophagus | ESCC | 5.26e-12 | 1.51e-01 | 0.1236 |
| 124936 | CYB5D2 | P23T-E | Human | Esophagus | ESCC | 7.42e-16 | 1.94e-01 | 0.108 |
| 124936 | CYB5D2 | P24T-E | Human | Esophagus | ESCC | 7.22e-08 | 1.05e-01 | 0.1287 |
| 124936 | CYB5D2 | P26T-E | Human | Esophagus | ESCC | 8.73e-04 | 4.61e-02 | 0.1276 |
| Page: 1 2 3 4 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Page: 1 |
| 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 |
| CYB5D2 | SNV | Missense_Mutation | novel | c.671N>T | p.Gly224Val | p.G224V | Q8WUJ1 | protein_coding | deleterious(0) | possibly_damaging(0.702) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
| CYB5D2 | insertion | Frame_Shift_Ins | novel | c.244_245insC | p.Phe82SerfsTer17 | p.F82Sfs*17 | Q8WUJ1 | protein_coding | TCGA-AO-A03R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| CYB5D2 | insertion | Frame_Shift_Ins | novel | c.214_215insCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG | p.His72ProfsTer22 | p.H72Pfs*22 | Q8WUJ1 | protein_coding | TCGA-B6-A0IM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| CYB5D2 | SNV | Missense_Mutation | rs766394921 | c.184N>A | p.Arg62Ser | p.R62S | Q8WUJ1 | protein_coding | deleterious(0) | benign(0.305) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
| CYB5D2 | SNV | Missense_Mutation | c.41C>A | p.Ala14Asp | p.A14D | Q8WUJ1 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.898) | TCGA-CM-4746-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| CYB5D2 | SNV | Missense_Mutation | novel | c.353N>C | p.Asn118Thr | p.N118T | Q8WUJ1 | protein_coding | tolerated(0.2) | benign(0.018) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| CYB5D2 | insertion | Frame_Shift_Ins | rs781101162 | c.671_672insC | p.Ser227Ter | p.S227* | Q8WUJ1 | protein_coding | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
| CYB5D2 | SNV | Missense_Mutation | c.259N>A | p.Ala87Thr | p.A87T | Q8WUJ1 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | |
| CYB5D2 | SNV | Missense_Mutation | rs556268341 | c.420G>T | p.Glu140Asp | p.E140D | Q8WUJ1 | protein_coding | tolerated(0.07) | benign(0.346) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
| CYB5D2 | SNV | Missense_Mutation | c.68C>T | p.Ala23Val | p.A23V | Q8WUJ1 | protein_coding | tolerated(0.69) | benign(0.007) | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <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 |
| Page: 1 |
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