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Gene: CEP250 |
Gene summary for CEP250 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CEP250 | Gene ID | 11190 |
| Gene name | centrosomal protein 250 | |
| Gene Alias | C-NAP1 | |
| Cytomap | 20q11.22 | |
| Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | Q9BV73 |
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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 |
| 11190 | CEP250 | LZE4T | Human | Esophagus | ESCC | 1.30e-10 | 2.90e-01 | 0.0811 |
| 11190 | CEP250 | LZE5T | Human | Esophagus | ESCC | 1.24e-02 | 5.30e-01 | 0.0514 |
| 11190 | CEP250 | LZE7T | Human | Esophagus | ESCC | 4.87e-08 | 3.91e-01 | 0.0667 |
| 11190 | CEP250 | LZE22T | Human | Esophagus | ESCC | 9.39e-03 | 2.99e-01 | 0.068 |
| 11190 | CEP250 | LZE24T | Human | Esophagus | ESCC | 4.37e-17 | 4.70e-01 | 0.0596 |
| 11190 | CEP250 | P1T-E | Human | Esophagus | ESCC | 4.52e-09 | 5.32e-01 | 0.0875 |
| 11190 | CEP250 | P2T-E | Human | Esophagus | ESCC | 5.42e-14 | 3.57e-01 | 0.1177 |
| 11190 | CEP250 | P4T-E | Human | Esophagus | ESCC | 3.60e-14 | 3.13e-01 | 0.1323 |
| 11190 | CEP250 | P5T-E | Human | Esophagus | ESCC | 1.58e-02 | 1.31e-01 | 0.1327 |
| 11190 | CEP250 | P8T-E | Human | Esophagus | ESCC | 3.93e-08 | 1.96e-01 | 0.0889 |
| 11190 | CEP250 | P9T-E | Human | Esophagus | ESCC | 2.28e-03 | 1.27e-01 | 0.1131 |
| 11190 | CEP250 | P10T-E | Human | Esophagus | ESCC | 1.59e-15 | 3.52e-01 | 0.116 |
| 11190 | CEP250 | P11T-E | Human | Esophagus | ESCC | 1.55e-04 | 2.99e-01 | 0.1426 |
| 11190 | CEP250 | P12T-E | Human | Esophagus | ESCC | 2.15e-21 | 4.39e-01 | 0.1122 |
| 11190 | CEP250 | P15T-E | Human | Esophagus | ESCC | 6.57e-12 | 3.32e-01 | 0.1149 |
| 11190 | CEP250 | P16T-E | Human | Esophagus | ESCC | 2.77e-19 | 3.57e-01 | 0.1153 |
| 11190 | CEP250 | P20T-E | Human | Esophagus | ESCC | 2.86e-08 | 2.71e-01 | 0.1124 |
| 11190 | CEP250 | P21T-E | Human | Esophagus | ESCC | 9.50e-18 | 4.15e-01 | 0.1617 |
| 11190 | CEP250 | P22T-E | Human | Esophagus | ESCC | 6.84e-12 | 2.86e-01 | 0.1236 |
| 11190 | CEP250 | P23T-E | Human | Esophagus | ESCC | 5.28e-13 | 3.02e-01 | 0.108 |
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| 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 | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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:1903829111 | Esophagus | ESCC | positive regulation of cellular protein localization | 199/8552 | 276/18723 | 2.99e-19 | 3.45e-17 | 199 |
| GO:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
| GO:00726985 | Esophagus | ESCC | protein localization to microtubule cytoskeleton | 43/8552 | 54/18723 | 3.28e-07 | 4.61e-06 | 43 |
| GO:00443804 | Esophagus | ESCC | protein localization to cytoskeleton | 45/8552 | 58/18723 | 6.89e-07 | 8.99e-06 | 45 |
| GO:00070982 | Esophagus | ESCC | centrosome cycle | 85/8552 | 130/18723 | 4.41e-06 | 4.69e-05 | 85 |
| GO:00310233 | Esophagus | ESCC | microtubule organizing center organization | 92/8552 | 143/18723 | 5.04e-06 | 5.31e-05 | 92 |
| GO:000941611 | Esophagus | ESCC | response to light stimulus | 183/8552 | 320/18723 | 2.03e-05 | 1.76e-04 | 183 |
| GO:19055086 | Esophagus | ESCC | protein localization to microtubule organizing center | 28/8552 | 35/18723 | 3.40e-05 | 2.78e-04 | 28 |
| GO:00715396 | Esophagus | ESCC | protein localization to centrosome | 26/8552 | 33/18723 | 1.06e-04 | 7.43e-04 | 26 |
| GO:0010457 | Esophagus | ESCC | centriole-centriole cohesion | 12/8552 | 14/18723 | 2.51e-03 | 1.08e-02 | 12 |
| GO:19055153 | Esophagus | ESCC | non-motile cilium assembly | 39/8552 | 61/18723 | 3.08e-03 | 1.28e-02 | 39 |
| GO:190382922 | Liver | HCC | positive regulation of cellular protein localization | 199/7958 | 276/18723 | 1.15e-23 | 2.62e-21 | 199 |
| GO:0031023 | Liver | HCC | microtubule organizing center organization | 82/7958 | 143/18723 | 2.38e-04 | 1.79e-03 | 82 |
| GO:0007098 | Liver | HCC | centrosome cycle | 75/7958 | 130/18723 | 3.33e-04 | 2.34e-03 | 75 |
| GO:00443802 | Liver | HCC | protein localization to cytoskeleton | 38/7958 | 58/18723 | 3.37e-04 | 2.36e-03 | 38 |
| GO:007269811 | Liver | HCC | protein localization to microtubule cytoskeleton | 35/7958 | 54/18723 | 7.73e-04 | 4.65e-03 | 35 |
| GO:00093146 | Liver | HCC | response to radiation | 223/7958 | 456/18723 | 3.08e-03 | 1.43e-02 | 223 |
| GO:190550811 | Liver | HCC | protein localization to microtubule organizing center | 23/7958 | 35/18723 | 4.72e-03 | 2.02e-02 | 23 |
| GO:007153911 | Liver | HCC | protein localization to centrosome | 21/7958 | 33/18723 | 1.16e-02 | 4.28e-02 | 21 |
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| 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 |
| CEP250 | SNV | Missense_Mutation | c.5019G>T | p.Gln1673His | p.Q1673H | Q9BV73 | protein_coding | tolerated(0.54) | benign(0.346) | TCGA-D8-A1Y0-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide+methotrexatum+fluorouracillum | SD | |
| CEP250 | SNV | Missense_Mutation | c.1237N>G | p.Gln413Glu | p.Q413E | Q9BV73 | protein_coding | deleterious(0.03) | probably_damaging(0.99) | TCGA-E2-A15A-06 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | |
| CEP250 | SNV | Missense_Mutation | rs748695664 | c.232G>A | p.Glu78Lys | p.E78K | Q9BV73 | protein_coding | tolerated(0.17) | possibly_damaging(0.864) | TCGA-E2-A1B4-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |
| CEP250 | insertion | Frame_Shift_Ins | novel | c.2647_2648insA | p.Met885AsnfsTer106 | p.M885Nfs*106 | Q9BV73 | protein_coding | TCGA-BH-A0BJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| CEP250 | deletion | Frame_Shift_Del | novel | c.2361delN | p.Gln789SerfsTer15 | p.Q789Sfs*15 | Q9BV73 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
| CEP250 | SNV | Missense_Mutation | novel | c.3910N>C | p.Trp1304Arg | p.W1304R | Q9BV73 | protein_coding | tolerated(0.1) | probably_damaging(0.955) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| CEP250 | SNV | Missense_Mutation | c.1035N>G | p.Ile345Met | p.I345M | Q9BV73 | protein_coding | deleterious(0.02) | probably_damaging(0.976) | TCGA-BI-A0VR-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
| CEP250 | SNV | Missense_Mutation | rs775018359 | c.544N>T | p.Arg182Trp | p.R182W | Q9BV73 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A0TN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
| CEP250 | SNV | Missense_Mutation | c.6898N>A | p.Leu2300Met | p.L2300M | Q9BV73 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EK-A2R9-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| CEP250 | SNV | Missense_Mutation | novel | c.6669N>C | p.Glu2223Asp | p.E2223D | Q9BV73 | protein_coding | tolerated(0.06) | probably_damaging(0.99) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | 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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