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Gene: CELSR1 |
Gene summary for CELSR1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CELSR1 | Gene ID | 9620 |
| Gene name | cadherin EGF LAG seven-pass G-type receptor 1 | |
| Gene Alias | ADGRC1 | |
| Cytomap | 22q13.31 | |
| Gene Type | protein-coding | GO ID | GO:0001736 | UniProtAcc | Q9NYQ6 |
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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 |
| 9620 | CELSR1 | GSM4909293 | Human | Breast | IDC | 2.75e-04 | 1.51e-01 | 0.1581 |
| 9620 | CELSR1 | GSM4909306 | Human | Breast | IDC | 6.31e-06 | 1.88e-01 | 0.1564 |
| 9620 | CELSR1 | GSM4909307 | Human | Breast | IDC | 6.87e-07 | 2.37e-01 | 0.1569 |
| 9620 | CELSR1 | GSM4909308 | Human | Breast | IDC | 2.12e-07 | 2.24e-01 | 0.158 |
| 9620 | CELSR1 | GSM4909317 | Human | Breast | IDC | 9.13e-05 | 1.59e-01 | 0.1355 |
| 9620 | CELSR1 | M5 | Human | Breast | IDC | 2.00e-02 | 3.32e-01 | 0.1598 |
| 9620 | CELSR1 | NCCBC2 | Human | Breast | DCIS | 2.73e-03 | 5.40e-01 | 0.1554 |
| 9620 | CELSR1 | P3 | Human | Breast | IDC | 2.53e-06 | 5.17e-01 | 0.1542 |
| 9620 | CELSR1 | DCIS2 | Human | Breast | DCIS | 6.56e-05 | 1.61e-02 | 0.0085 |
| 9620 | CELSR1 | CA_HPV_1 | Human | Cervix | CC | 1.81e-04 | -1.12e-01 | 0.0264 |
| 9620 | CELSR1 | CCI_1 | Human | Cervix | CC | 2.36e-20 | 1.57e+00 | 0.528 |
| 9620 | CELSR1 | CCI_2 | Human | Cervix | CC | 2.47e-03 | 4.05e-01 | 0.5249 |
| 9620 | CELSR1 | CCI_3 | Human | Cervix | CC | 1.66e-21 | 8.72e-01 | 0.516 |
| 9620 | CELSR1 | sample3 | Human | Cervix | CC | 2.83e-03 | 1.91e-01 | 0.1387 |
| 9620 | CELSR1 | AEH-subject1 | Human | Endometrium | AEH | 4.66e-09 | 3.57e-01 | -0.3059 |
| 9620 | CELSR1 | AEH-subject3 | Human | Endometrium | AEH | 7.57e-08 | 3.66e-01 | -0.2576 |
| 9620 | CELSR1 | AEH-subject5 | Human | Endometrium | AEH | 1.78e-21 | 6.42e-01 | -0.2953 |
| 9620 | CELSR1 | EEC-subject2 | Human | Endometrium | EEC | 6.75e-13 | 4.51e-01 | -0.2607 |
| 9620 | CELSR1 | EEC-subject4 | Human | Endometrium | EEC | 1.57e-02 | 2.78e-01 | -0.2571 |
| 9620 | CELSR1 | EEC-subject5 | Human | Endometrium | EEC | 1.24e-05 | 2.99e-01 | -0.249 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| 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 | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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:000183822 | Skin | cSCC | embryonic epithelial tube formation | 47/4864 | 121/18723 | 1.26e-03 | 8.18e-03 | 47 |
| GO:001633113 | Skin | cSCC | morphogenesis of embryonic epithelium | 55/4864 | 147/18723 | 1.45e-03 | 9.11e-03 | 55 |
| GO:000726617 | Skin | cSCC | Rho protein signal transduction | 51/4864 | 137/18723 | 2.38e-03 | 1.38e-02 | 51 |
| GO:003514822 | Skin | cSCC | tube formation | 54/4864 | 148/18723 | 3.00e-03 | 1.66e-02 | 54 |
| GO:007217521 | Skin | cSCC | epithelial tube formation | 49/4864 | 132/18723 | 3.06e-03 | 1.68e-02 | 49 |
| GO:000173821 | Skin | cSCC | morphogenesis of a polarized epithelium | 35/4864 | 94/18723 | 1.05e-02 | 4.61e-02 | 35 |
| GO:003032417 | Skin | cSCC | lung development | 60/4864 | 177/18723 | 1.14e-02 | 4.97e-02 | 60 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
| 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 |
| CELSR1 | SNV | Missense_Mutation | rs73888514 | c.4171N>A | p.Glu1391Lys | p.E1391K | Q9NYQ6 | protein_coding | tolerated(0.08) | benign(0.425) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
| CELSR1 | SNV | Missense_Mutation | novel | c.8630G>A | p.Ser2877Asn | p.S2877N | Q9NYQ6 | protein_coding | tolerated(0.32) | benign(0.05) | TCGA-A2-A4RW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| CELSR1 | SNV | Missense_Mutation | c.6920C>T | p.Thr2307Ile | p.T2307I | Q9NYQ6 | protein_coding | tolerated(0.42) | benign(0.216) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| CELSR1 | SNV | Missense_Mutation | rs146465806 | c.8269N>A | p.Glu2757Lys | p.E2757K | Q9NYQ6 | protein_coding | tolerated(0.09) | possibly_damaging(0.636) | TCGA-AC-A8OQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CELSR1 | SNV | Missense_Mutation | rs143915949 | c.8410N>A | p.Asp2804Asn | p.D2804N | Q9NYQ6 | protein_coding | deleterious(0.01) | possibly_damaging(0.871) | TCGA-C8-A27B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
| CELSR1 | SNV | Missense_Mutation | rs775423517 | c.8191G>A | p.Ala2731Thr | p.A2731T | Q9NYQ6 | protein_coding | tolerated(0.11) | benign(0.157) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
| CELSR1 | SNV | Missense_Mutation | novel | c.3998N>G | p.Ser1333Cys | p.S1333C | Q9NYQ6 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-E9-A3QA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| CELSR1 | SNV | Missense_Mutation | c.860T>C | p.Leu287Pro | p.L287P | Q9NYQ6 | protein_coding | deleterious(0.02) | probably_damaging(0.995) | TCGA-EW-A1P0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | PD | |
| CELSR1 | insertion | Nonsense_Mutation | novel | c.5926_5927insTCGTGTCTCCAGAAATGCACACGCGTTCTCAGTGCAGACTCTAGGGA | p.Pro1976LeufsTer15 | p.P1976Lfs*15 | Q9NYQ6 | protein_coding | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| CELSR1 | insertion | Frame_Shift_Ins | novel | c.5313_5314insC | p.Gly1772ArgfsTer14 | p.G1772Rfs*14 | Q9NYQ6 | protein_coding | TCGA-C8-A1HK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 |
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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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