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Gene: CERS6 |
Gene summary for CERS6 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CERS6 | Gene ID | 253782 |
| Gene name | ceramide synthase 6 | |
| Gene Alias | CERS5 | |
| Cytomap | 2q24.3 | |
| Gene Type | protein-coding | GO ID | GO:0006629 | UniProtAcc | Q6ZMG9 |
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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 |
| 253782 | CERS6 | CA_HPV_3 | Human | Cervix | CC | 1.73e-08 | 2.25e-01 | 0.0414 |
| 253782 | CERS6 | CCI_1 | Human | Cervix | CC | 1.71e-16 | 1.21e+00 | 0.528 |
| 253782 | CERS6 | CCI_2 | Human | Cervix | CC | 1.29e-08 | 1.01e+00 | 0.5249 |
| 253782 | CERS6 | CCI_3 | Human | Cervix | CC | 7.50e-23 | 1.21e+00 | 0.516 |
| 253782 | CERS6 | Tumor | Human | Cervix | CC | 2.60e-02 | 1.56e-01 | 0.1241 |
| 253782 | CERS6 | sample3 | Human | Cervix | CC | 1.44e-06 | 2.26e-01 | 0.1387 |
| 253782 | CERS6 | T3 | Human | Cervix | CC | 8.28e-04 | 1.74e-01 | 0.1389 |
| 253782 | CERS6 | HTA11_3410_2000001011 | Human | Colorectum | AD | 6.75e-04 | -3.24e-01 | 0.0155 |
| 253782 | CERS6 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.02e-08 | -5.82e-01 | -0.1808 |
| 253782 | CERS6 | HTA11_2112_2000001011 | Human | Colorectum | SER | 9.00e-10 | -8.48e-01 | -0.2196 |
| 253782 | CERS6 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.86e-31 | -1.01e+00 | -0.1207 |
| 253782 | CERS6 | HTA11_696_2000001011 | Human | Colorectum | AD | 2.40e-07 | -4.51e-01 | -0.1464 |
| 253782 | CERS6 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.69e-04 | 2.42e-01 | -0.059 |
| 253782 | CERS6 | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.68e-03 | -6.73e-01 | -0.1706 |
| 253782 | CERS6 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.29e-06 | -7.20e-01 | -0.2061 |
| 253782 | CERS6 | HTA11_5216_2000001011 | Human | Colorectum | SER | 8.89e-16 | -9.73e-01 | -0.1462 |
| 253782 | CERS6 | HTA11_9341_2000001011 | Human | Colorectum | SER | 3.76e-06 | -6.37e-01 | -0.00410000000000005 |
| 253782 | CERS6 | HTA11_8622_2000001021 | Human | Colorectum | SER | 3.45e-03 | -5.03e-01 | 0.0528 |
| 253782 | CERS6 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 3.81e-05 | 5.51e-01 | 0.3487 |
| 253782 | CERS6 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 4.11e-02 | -2.98e-02 | 0.3859 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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 |
| GO:00066433 | Esophagus | ESCC | membrane lipid metabolic process | 130/8552 | 203/18723 | 9.29e-08 | 1.54e-06 | 130 |
| GO:00464673 | Esophagus | ESCC | membrane lipid biosynthetic process | 91/8552 | 142/18723 | 7.19e-06 | 7.19e-05 | 91 |
| GO:00066652 | Esophagus | ESCC | sphingolipid metabolic process | 96/8552 | 155/18723 | 3.21e-05 | 2.66e-04 | 96 |
| GO:00301481 | Esophagus | ESCC | sphingolipid biosynthetic process | 62/8552 | 103/18723 | 2.10e-03 | 9.38e-03 | 62 |
| GO:00066721 | Esophagus | ESCC | ceramide metabolic process | 61/8552 | 102/18723 | 2.82e-03 | 1.19e-02 | 61 |
| GO:0046513 | Esophagus | ESCC | ceramide biosynthetic process | 40/8552 | 65/18723 | 7.25e-03 | 2.63e-02 | 40 |
| GO:0006643 | Liver | Cirrhotic | membrane lipid metabolic process | 69/4634 | 203/18723 | 1.89e-03 | 1.19e-02 | 69 |
| GO:00066431 | Liver | HCC | membrane lipid metabolic process | 115/7958 | 203/18723 | 3.17e-05 | 3.22e-04 | 115 |
| GO:0006665 | Liver | HCC | sphingolipid metabolic process | 85/7958 | 155/18723 | 1.27e-03 | 6.92e-03 | 85 |
| GO:0046467 | Liver | HCC | membrane lipid biosynthetic process | 78/7958 | 142/18723 | 1.85e-03 | 9.46e-03 | 78 |
| GO:00066432 | Oral cavity | OSCC | membrane lipid metabolic process | 111/7305 | 203/18723 | 4.02e-06 | 4.69e-05 | 111 |
| GO:00066651 | Oral cavity | OSCC | sphingolipid metabolic process | 84/7305 | 155/18723 | 8.64e-05 | 6.61e-04 | 84 |
| GO:00464672 | Oral cavity | OSCC | membrane lipid biosynthetic process | 77/7305 | 142/18723 | 1.63e-04 | 1.13e-03 | 77 |
| GO:0006672 | Oral cavity | OSCC | ceramide metabolic process | 53/7305 | 102/18723 | 5.28e-03 | 2.06e-02 | 53 |
| GO:0030148 | Oral cavity | OSCC | sphingolipid biosynthetic process | 53/7305 | 103/18723 | 6.81e-03 | 2.53e-02 | 53 |
| GO:000664311 | Oral cavity | LP | membrane lipid metabolic process | 69/4623 | 203/18723 | 1.77e-03 | 1.34e-02 | 69 |
| GO:00464671 | Oral cavity | LP | membrane lipid biosynthetic process | 49/4623 | 142/18723 | 5.44e-03 | 3.31e-02 | 49 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0407110 | Cervix | CC | Sphingolipid signaling pathway | 35/1267 | 121/8465 | 5.70e-05 | 3.93e-04 | 2.32e-04 | 35 |
| hsa0407113 | Cervix | CC | Sphingolipid signaling pathway | 35/1267 | 121/8465 | 5.70e-05 | 3.93e-04 | 2.32e-04 | 35 |
| hsa04071 | Colorectum | AD | Sphingolipid signaling pathway | 43/2092 | 121/8465 | 4.83e-03 | 2.28e-02 | 1.45e-02 | 43 |
| hsa040711 | Colorectum | AD | Sphingolipid signaling pathway | 43/2092 | 121/8465 | 4.83e-03 | 2.28e-02 | 1.45e-02 | 43 |
| hsa040712 | Colorectum | MSS | Sphingolipid signaling pathway | 40/1875 | 121/8465 | 3.56e-03 | 1.64e-02 | 1.01e-02 | 40 |
| hsa040713 | Colorectum | MSS | Sphingolipid signaling pathway | 40/1875 | 121/8465 | 3.56e-03 | 1.64e-02 | 1.01e-02 | 40 |
| hsa040714 | Colorectum | FAP | Sphingolipid signaling pathway | 34/1404 | 121/8465 | 9.53e-04 | 5.22e-03 | 3.17e-03 | 34 |
| hsa040715 | Colorectum | FAP | Sphingolipid signaling pathway | 34/1404 | 121/8465 | 9.53e-04 | 5.22e-03 | 3.17e-03 | 34 |
| hsa040716 | Colorectum | CRC | Sphingolipid signaling pathway | 30/1091 | 121/8465 | 2.49e-04 | 3.09e-03 | 2.09e-03 | 30 |
| hsa040717 | Colorectum | CRC | Sphingolipid signaling pathway | 30/1091 | 121/8465 | 2.49e-04 | 3.09e-03 | 2.09e-03 | 30 |
| hsa0407116 | Esophagus | ESCC | Sphingolipid signaling pathway | 85/4205 | 121/8465 | 3.04e-06 | 1.73e-05 | 8.84e-06 | 85 |
| hsa006003 | Esophagus | ESCC | Sphingolipid metabolism | 36/4205 | 53/8465 | 5.41e-03 | 1.36e-02 | 6.99e-03 | 36 |
| hsa0407117 | Esophagus | ESCC | Sphingolipid signaling pathway | 85/4205 | 121/8465 | 3.04e-06 | 1.73e-05 | 8.84e-06 | 85 |
| hsa0060012 | Esophagus | ESCC | Sphingolipid metabolism | 36/4205 | 53/8465 | 5.41e-03 | 1.36e-02 | 6.99e-03 | 36 |
| hsa040718 | Liver | HCC | Sphingolipid signaling pathway | 72/4020 | 121/8465 | 5.01e-03 | 1.47e-02 | 8.18e-03 | 72 |
| hsa00600 | Liver | HCC | Sphingolipid metabolism | 34/4020 | 53/8465 | 1.06e-02 | 2.71e-02 | 1.51e-02 | 34 |
| hsa0407111 | Liver | HCC | Sphingolipid signaling pathway | 72/4020 | 121/8465 | 5.01e-03 | 1.47e-02 | 8.18e-03 | 72 |
| hsa006001 | Liver | HCC | Sphingolipid metabolism | 34/4020 | 53/8465 | 1.06e-02 | 2.71e-02 | 1.51e-02 | 34 |
| hsa040719 | Lung | IAC | Sphingolipid signaling pathway | 28/1053 | 121/8465 | 7.30e-04 | 6.08e-03 | 4.04e-03 | 28 |
| hsa0407112 | Lung | IAC | Sphingolipid signaling pathway | 28/1053 | 121/8465 | 7.30e-04 | 6.08e-03 | 4.04e-03 | 28 |
| Page: 1 2 |
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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 |
| CERS6 | TREG | Endometrium | ADJ | SRGAP2C,ALKBH5,NAV1, etc. | 6.78e-02 |  |
| CERS6 | TREG | Endometrium | AEH | SRGAP2C,ALKBH5,NAV1, etc. | 1.50e-01 |  |
| CERS6 | INCAF | Esophagus | ESCC | TIMP3,ZNF549,HMGCR, etc. | 2.98e-01 |  |
| CERS6 | MYOFIB | Esophagus | ESCC | TIMP3,ZNF549,HMGCR, etc. | 3.21e-01 | |
| CERS6 | LYMEND | Esophagus | Healthy | TIMP3,ZNF549,HMGCR, etc. | 9.16e-02 |  |
| CERS6 | MSC | Liver | HCC | IL17RE,GBE1,NEDD4L, etc. | 1.53e-02 |  |
| CERS6 | MSC.MVA | Liver | Healthy | IL17RE,GBE1,NEDD4L, etc. | 1.77e-02 |  |
| ∗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 |
| CERS6 | SNV | Missense_Mutation | c.24N>G | p.Phe8Leu | p.F8L | Q6ZMG9 | protein_coding | tolerated(0.9) | benign(0.021) | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CERS6 | SNV | Missense_Mutation | novel | c.404N>A | p.Ser135Asn | p.S135N | Q6ZMG9 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CERS6 | SNV | Missense_Mutation | c.416N>G | p.Phe139Cys | p.F139C | Q6ZMG9 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-A6-2681-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| CERS6 | SNV | Missense_Mutation | c.4N>A | p.Ala2Thr | p.A2T | Q6ZMG9 | protein_coding | deleterious(0.01) | benign(0.441) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CERS6 | SNV | Missense_Mutation | c.746N>T | p.Lys249Ile | p.K249I | Q6ZMG9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
| CERS6 | SNV | Missense_Mutation | c.46N>T | p.Pro16Ser | p.P16S | Q6ZMG9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-G4-6320-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | oxaliplatin | SD | |
| CERS6 | SNV | Missense_Mutation | c.317N>G | p.Leu106Arg | p.L106R | Q6ZMG9 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AF-A56N-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Chemotherapy | xeloda | CR | |
| CERS6 | SNV | Missense_Mutation | novel | c.595N>T | p.Asp199Tyr | p.D199Y | Q6ZMG9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| CERS6 | SNV | Missense_Mutation | novel | c.614N>G | p.Phe205Cys | p.F205C | Q6ZMG9 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| CERS6 | insertion | Frame_Shift_Ins | novel | c.567_568insTGGTCTTTGA | p.Phe194ValfsTer9 | p.F194Vfs*9 | Q6ZMG9 | protein_coding | TCGA-EI-6514-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Chemotherapy | 5-fu | 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 |
| 253782 | CERS6 | ENZYME | Tumor necrosis factor alpha (TNF-alpha) inhibitors |
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