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Gene: CLDN1 |
Gene summary for CLDN1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CLDN1 | Gene ID | 9076 |
| Gene name | claudin 1 | |
| Gene Alias | CLD1 | |
| Cytomap | 3q28 | |
| Gene Type | protein-coding | GO ID | GO:0001885 | UniProtAcc | A5JSJ9 |
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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 |
| 9076 | CLDN1 | CA_HPV_1 | Human | Cervix | CC | 2.28e-02 | -2.04e-01 | 0.0264 |
| 9076 | CLDN1 | CA_HPV_2 | Human | Cervix | CC | 1.66e-16 | 6.18e-01 | 0.0391 |
| 9076 | CLDN1 | N_HPV_1 | Human | Cervix | N_HPV | 2.96e-04 | -1.79e-01 | 0.0079 |
| 9076 | CLDN1 | CCI_1 | Human | Cervix | CC | 4.55e-03 | 1.94e+00 | 0.528 |
| 9076 | CLDN1 | CCI_2 | Human | Cervix | CC | 2.86e-09 | 1.90e+00 | 0.5249 |
| 9076 | CLDN1 | CCI_3 | Human | Cervix | CC | 2.05e-12 | 1.18e+00 | 0.516 |
| 9076 | CLDN1 | Tumor | Human | Cervix | CC | 1.04e-66 | 1.15e+00 | 0.1241 |
| 9076 | CLDN1 | sample1 | Human | Cervix | CC | 4.75e-27 | 1.08e+00 | 0.0959 |
| 9076 | CLDN1 | sample3 | Human | Cervix | CC | 2.73e-87 | 1.22e+00 | 0.1387 |
| 9076 | CLDN1 | L1 | Human | Cervix | CC | 1.39e-05 | 5.01e-01 | 0.0802 |
| 9076 | CLDN1 | T1 | Human | Cervix | CC | 7.94e-36 | 9.75e-01 | 0.0918 |
| 9076 | CLDN1 | T3 | Human | Cervix | CC | 5.28e-91 | 1.23e+00 | 0.1389 |
| 9076 | CLDN1 | LZE2D | Human | Esophagus | HGIN | 2.74e-04 | 1.36e+00 | 0.0642 |
| 9076 | CLDN1 | LZE3D | Human | Esophagus | HGIN | 5.05e-03 | 5.51e-01 | 0.0668 |
| 9076 | CLDN1 | LZE8T | Human | Esophagus | ESCC | 4.18e-41 | 2.01e+00 | 0.067 |
| 9076 | CLDN1 | LZE20T | Human | Esophagus | ESCC | 1.12e-30 | 1.55e+00 | 0.0662 |
| 9076 | CLDN1 | LZE21D1 | Human | Esophagus | HGIN | 1.11e-10 | 2.53e+00 | 0.0632 |
| 9076 | CLDN1 | LZE22T | Human | Esophagus | ESCC | 1.63e-11 | 1.60e+00 | 0.068 |
| 9076 | CLDN1 | LZE21T | Human | Esophagus | ESCC | 1.38e-28 | 1.96e+00 | 0.0655 |
| 9076 | CLDN1 | LZE6T | Human | Esophagus | ESCC | 1.38e-05 | 3.63e-01 | 0.0845 |
| Page: 1 2 3 4 5 6 7 8 |
| 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 | ||
| 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 | ||
| 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:007139812 | Oral cavity | LP | cellular response to fatty acid | 17/4623 | 38/18723 | 5.48e-03 | 3.32e-02 | 17 |
| GO:003356112 | Oral cavity | LP | regulation of water loss via skin | 13/4623 | 27/18723 | 6.92e-03 | 3.96e-02 | 13 |
| GO:0097305110 | Oral cavity | LP | response to alcohol | 80/4623 | 253/18723 | 7.24e-03 | 4.05e-02 | 80 |
| GO:007054212 | Oral cavity | LP | response to fatty acid | 25/4623 | 64/18723 | 7.63e-03 | 4.20e-02 | 25 |
| GO:001603218 | Prostate | BPH | viral process | 147/3107 | 415/18723 | 4.46e-21 | 5.52e-18 | 147 |
| GO:001905818 | Prostate | BPH | viral life cycle | 112/3107 | 317/18723 | 2.87e-16 | 5.54e-14 | 112 |
| GO:000206417 | Prostate | BPH | epithelial cell development | 85/3107 | 220/18723 | 3.16e-15 | 4.55e-13 | 85 |
| GO:004854518 | Prostate | BPH | response to steroid hormone | 109/3107 | 339/18723 | 9.35e-13 | 8.15e-11 | 109 |
| GO:004206018 | Prostate | BPH | wound healing | 123/3107 | 422/18723 | 5.74e-11 | 3.59e-09 | 123 |
| GO:005212618 | Prostate | BPH | movement in host environment | 64/3107 | 175/18723 | 1.28e-10 | 7.47e-09 | 64 |
| GO:004440318 | Prostate | BPH | biological process involved in symbiotic interaction | 90/3107 | 290/18723 | 6.98e-10 | 3.25e-08 | 90 |
| GO:190165417 | Prostate | BPH | response to ketone | 67/3107 | 194/18723 | 8.10e-10 | 3.74e-08 | 67 |
| GO:005170118 | Prostate | BPH | biological process involved in interaction with host | 69/3107 | 203/18723 | 9.94e-10 | 4.56e-08 | 69 |
| GO:004873218 | Prostate | BPH | gland development | 122/3107 | 436/18723 | 1.13e-09 | 5.01e-08 | 122 |
| GO:000756816 | Prostate | BPH | aging | 100/3107 | 339/18723 | 1.77e-09 | 7.44e-08 | 100 |
| GO:004440918 | Prostate | BPH | entry into host | 54/3107 | 151/18723 | 8.66e-09 | 2.96e-07 | 54 |
| GO:004671818 | Prostate | BPH | viral entry into host cell | 52/3107 | 144/18723 | 1.11e-08 | 3.68e-07 | 52 |
| GO:001003818 | Prostate | BPH | response to metal ion | 104/3107 | 373/18723 | 2.32e-08 | 6.99e-07 | 104 |
| GO:003432910 | Prostate | BPH | cell junction assembly | 114/3107 | 420/18723 | 2.52e-08 | 7.49e-07 | 114 |
| GO:000315814 | Prostate | BPH | endothelium development | 49/3107 | 136/18723 | 3.17e-08 | 9.07e-07 | 49 |
| 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 32 33 34 35 36 37 38 39 40 41 42 43 44 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0513020 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
| hsa0453020 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
| hsa0467020 | Cervix | CC | Leukocyte transendothelial migration | 36/1267 | 114/8465 | 5.22e-06 | 4.83e-05 | 2.86e-05 | 36 |
| hsa045147 | Cervix | CC | Cell adhesion molecules | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
| hsa05130110 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
| hsa04530110 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
| hsa04670110 | Cervix | CC | Leukocyte transendothelial migration | 36/1267 | 114/8465 | 5.22e-06 | 4.83e-05 | 2.86e-05 | 36 |
| hsa0451412 | Cervix | CC | Cell adhesion molecules | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
| hsa0513044 | Cervix | N_HPV | Pathogenic Escherichia coli infection | 25/349 | 197/8465 | 4.71e-07 | 8.00e-06 | 6.25e-06 | 25 |
| hsa0451441 | Cervix | N_HPV | Cell adhesion molecules | 18/349 | 157/8465 | 7.71e-05 | 8.06e-04 | 6.30e-04 | 18 |
| hsa0453025 | Cervix | N_HPV | Tight junction | 16/349 | 169/8465 | 1.60e-03 | 1.01e-02 | 7.92e-03 | 16 |
| hsa0467045 | Cervix | N_HPV | Leukocyte transendothelial migration | 12/349 | 114/8465 | 2.50e-03 | 1.45e-02 | 1.13e-02 | 12 |
| hsa0513054 | Cervix | N_HPV | Pathogenic Escherichia coli infection | 25/349 | 197/8465 | 4.71e-07 | 8.00e-06 | 6.25e-06 | 25 |
| hsa0451451 | Cervix | N_HPV | Cell adhesion molecules | 18/349 | 157/8465 | 7.71e-05 | 8.06e-04 | 6.30e-04 | 18 |
| hsa0453035 | Cervix | N_HPV | Tight junction | 16/349 | 169/8465 | 1.60e-03 | 1.01e-02 | 7.92e-03 | 16 |
| hsa0467055 | Cervix | N_HPV | Leukocyte transendothelial migration | 12/349 | 114/8465 | 2.50e-03 | 1.45e-02 | 1.13e-02 | 12 |
| hsa0513039 | Esophagus | HGIN | Pathogenic Escherichia coli infection | 54/1383 | 197/8465 | 4.91e-05 | 6.15e-04 | 4.89e-04 | 54 |
| hsa0453039 | Esophagus | HGIN | Tight junction | 40/1383 | 169/8465 | 8.18e-03 | 4.71e-02 | 3.74e-02 | 40 |
| hsa05130115 | Esophagus | HGIN | Pathogenic Escherichia coli infection | 54/1383 | 197/8465 | 4.91e-05 | 6.15e-04 | 4.89e-04 | 54 |
| hsa04530115 | Esophagus | HGIN | Tight junction | 40/1383 | 169/8465 | 8.18e-03 | 4.71e-02 | 3.74e-02 | 40 |
| Page: 1 2 3 4 |
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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 |
| CLDN1 | SNV | Missense_Mutation | c.450N>A | p.Asp150Glu | p.D150E | O95832 | protein_coding | deleterious(0.02) | benign(0.403) | TCGA-AC-A3YI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR | |
| CLDN1 | SNV | Missense_Mutation | novel | c.97N>C | p.Tyr33His | p.Y33H | O95832 | protein_coding | deleterious(0) | possibly_damaging(0.722) | TCGA-XX-A899-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
| CLDN1 | insertion | In_Frame_Ins | novel | c.228_229insAAAAAGTTATTTAAC | p.Thr76_Leu77insLysLysLeuPheAsn | p.T76_L77insKKLFN | O95832 | protein_coding | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | ||
| CLDN1 | deletion | Frame_Shift_Del | novel | c.485delN | p.Gly162ValfsTer73 | p.G162Vfs*73 | O95832 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| CLDN1 | SNV | Missense_Mutation | novel | c.391N>G | p.Leu131Val | p.L131V | O95832 | protein_coding | tolerated(0.24) | possibly_damaging(0.759) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| CLDN1 | deletion | Frame_Shift_Del | c.194_195delNN | p.Lys65SerfsTer3 | p.K65Sfs*3 | O95832 | protein_coding | TCGA-G4-6309-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | xeloda | PD | |||
| CLDN1 | SNV | Missense_Mutation | rs147881276 | c.631G>A | p.Val211Met | p.V211M | O95832 | protein_coding | deleterious(0.05) | probably_damaging(0.992) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CLDN1 | SNV | Missense_Mutation | novel | c.221N>T | p.Ser74Ile | p.S74I | O95832 | protein_coding | deleterious(0.01) | possibly_damaging(0.449) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
| CLDN1 | SNV | Missense_Mutation | rs772600198 | c.331N>A | p.Asp111Asn | p.D111N | O95832 | protein_coding | tolerated(0.35) | benign(0.279) | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD |
| CLDN1 | SNV | Missense_Mutation | rs754012333 | c.253N>A | p.Val85Met | p.V85M | O95832 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 |
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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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