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Gene: BBS7 |
Gene summary for BBS7 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BBS7 | Gene ID | 55212 |
| Gene name | Bardet-Biedl syndrome 7 | |
| Gene Alias | BBS2L1 | |
| Cytomap | 4q27 | |
| Gene Type | protein-coding | GO ID | GO:0001654 | UniProtAcc | Q8IWZ6 |
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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 |
| 55212 | BBS7 | LZE4T | Human | Esophagus | ESCC | 5.31e-06 | 1.30e-01 | 0.0811 |
| 55212 | BBS7 | LZE7T | Human | Esophagus | ESCC | 7.78e-05 | 2.24e-01 | 0.0667 |
| 55212 | BBS7 | LZE24T | Human | Esophagus | ESCC | 5.23e-03 | 1.42e-01 | 0.0596 |
| 55212 | BBS7 | LZE6T | Human | Esophagus | ESCC | 1.77e-04 | 2.68e-01 | 0.0845 |
| 55212 | BBS7 | P2T-E | Human | Esophagus | ESCC | 4.44e-19 | 3.15e-01 | 0.1177 |
| 55212 | BBS7 | P4T-E | Human | Esophagus | ESCC | 1.04e-10 | 3.50e-01 | 0.1323 |
| 55212 | BBS7 | P5T-E | Human | Esophagus | ESCC | 8.02e-10 | 1.86e-01 | 0.1327 |
| 55212 | BBS7 | P8T-E | Human | Esophagus | ESCC | 5.57e-09 | 7.49e-02 | 0.0889 |
| 55212 | BBS7 | P9T-E | Human | Esophagus | ESCC | 5.85e-08 | 1.27e-01 | 0.1131 |
| 55212 | BBS7 | P10T-E | Human | Esophagus | ESCC | 6.00e-14 | 1.77e-01 | 0.116 |
| 55212 | BBS7 | P11T-E | Human | Esophagus | ESCC | 2.69e-08 | 2.09e-01 | 0.1426 |
| 55212 | BBS7 | P12T-E | Human | Esophagus | ESCC | 6.27e-24 | 4.64e-01 | 0.1122 |
| 55212 | BBS7 | P15T-E | Human | Esophagus | ESCC | 1.71e-07 | 2.26e-01 | 0.1149 |
| 55212 | BBS7 | P16T-E | Human | Esophagus | ESCC | 2.08e-16 | 2.22e-01 | 0.1153 |
| 55212 | BBS7 | P17T-E | Human | Esophagus | ESCC | 1.39e-09 | 3.16e-01 | 0.1278 |
| 55212 | BBS7 | P19T-E | Human | Esophagus | ESCC | 7.13e-09 | 6.55e-01 | 0.1662 |
| 55212 | BBS7 | P20T-E | Human | Esophagus | ESCC | 6.72e-06 | 9.75e-02 | 0.1124 |
| 55212 | BBS7 | P21T-E | Human | Esophagus | ESCC | 8.29e-21 | 2.59e-01 | 0.1617 |
| 55212 | BBS7 | P22T-E | Human | Esophagus | ESCC | 2.02e-37 | 6.98e-01 | 0.1236 |
| 55212 | BBS7 | P23T-E | Human | Esophagus | ESCC | 1.12e-06 | 1.21e-01 | 0.108 |
| 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 |
| GO:00330593 | Esophagus | ESCC | cellular pigmentation | 40/8552 | 53/18723 | 9.67e-06 | 9.21e-05 | 40 |
| GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
| GO:00454449 | Esophagus | ESCC | fat cell differentiation | 135/8552 | 229/18723 | 3.38e-05 | 2.78e-04 | 135 |
| GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
| GO:00487367 | Esophagus | ESCC | appendage development | 98/8552 | 172/18723 | 1.83e-03 | 8.37e-03 | 98 |
| GO:00601737 | Esophagus | ESCC | limb development | 98/8552 | 172/18723 | 1.83e-03 | 8.37e-03 | 98 |
| GO:00434731 | Esophagus | ESCC | pigmentation | 59/8552 | 98/18723 | 2.64e-03 | 1.12e-02 | 59 |
| GO:19055153 | Esophagus | ESCC | non-motile cilium assembly | 39/8552 | 61/18723 | 3.08e-03 | 1.28e-02 | 39 |
| GO:0060021 | Esophagus | ESCC | roof of mouth development | 50/8552 | 85/18723 | 1.00e-02 | 3.42e-02 | 50 |
| GO:001049820 | Oral cavity | OSCC | proteasomal protein catabolic process | 336/7305 | 490/18723 | 5.45e-41 | 8.63e-38 | 336 |
| GO:004316120 | Oral cavity | OSCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 285/7305 | 412/18723 | 5.68e-36 | 5.99e-33 | 285 |
| GO:000989620 | Oral cavity | OSCC | positive regulation of catabolic process | 307/7305 | 492/18723 | 2.29e-26 | 7.64e-24 | 307 |
| GO:003133120 | Oral cavity | OSCC | positive regulation of cellular catabolic process | 273/7305 | 427/18723 | 6.39e-26 | 2.02e-23 | 273 |
| GO:004217620 | Oral cavity | OSCC | regulation of protein catabolic process | 254/7305 | 391/18723 | 1.07e-25 | 3.22e-23 | 254 |
| GO:004586220 | Oral cavity | OSCC | positive regulation of proteolysis | 236/7305 | 372/18723 | 6.53e-22 | 1.38e-19 | 236 |
| GO:190336220 | Oral cavity | OSCC | regulation of cellular protein catabolic process | 174/7305 | 255/18723 | 2.04e-21 | 3.70e-19 | 174 |
| GO:190305020 | Oral cavity | OSCC | regulation of proteolysis involved in cellular protein catabolic process | 152/7305 | 221/18723 | 2.16e-19 | 3.15e-17 | 152 |
| GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
| GO:006113620 | Oral cavity | OSCC | regulation of proteasomal protein catabolic process | 132/7305 | 187/18723 | 1.57e-18 | 1.81e-16 | 132 |
| GO:200005820 | Oral cavity | OSCC | regulation of ubiquitin-dependent protein catabolic process | 118/7305 | 164/18723 | 9.37e-18 | 9.27e-16 | 118 |
| Page: 1 2 3 4 5 6 7 |
| 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 |
| BBS7 | SNV | Missense_Mutation | c.433N>C | p.Asp145His | p.D145H | Q8IWZ6 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| BBS7 | SNV | Missense_Mutation | c.593N>T | p.Gly198Val | p.G198V | Q8IWZ6 | protein_coding | tolerated(0.28) | possibly_damaging(0.595) | TCGA-BH-A0AZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR | |
| BBS7 | SNV | Missense_Mutation | novel | c.617A>T | p.Asp206Val | p.D206V | Q8IWZ6 | protein_coding | tolerated(0.11) | benign(0.04) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| BBS7 | SNV | Missense_Mutation | novel | c.367N>T | p.Leu123Phe | p.L123F | Q8IWZ6 | protein_coding | deleterious(0.01) | possibly_damaging(0.822) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
| BBS7 | SNV | Missense_Mutation | c.1042N>A | p.Glu348Lys | p.E348K | Q8IWZ6 | protein_coding | tolerated(0.05) | possibly_damaging(0.865) | TCGA-A6-5662-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | PD | |
| BBS7 | SNV | Missense_Mutation | rs750133083 | c.1487G>T | p.Arg496Ile | p.R496I | Q8IWZ6 | protein_coding | tolerated(0.08) | possibly_damaging(0.728) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD |
| BBS7 | SNV | Missense_Mutation | c.1520N>G | p.Asn507Ser | p.N507S | Q8IWZ6 | protein_coding | tolerated(0.15) | possibly_damaging(0.826) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| BBS7 | SNV | Missense_Mutation | novel | c.1063A>C | p.Lys355Gln | p.K355Q | Q8IWZ6 | protein_coding | tolerated(0.24) | benign(0.061) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| BBS7 | SNV | Missense_Mutation | novel | c.1061A>T | p.Tyr354Phe | p.Y354F | Q8IWZ6 | protein_coding | tolerated(0.71) | benign(0) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| BBS7 | SNV | Missense_Mutation | c.1008N>T | p.Gln336His | p.Q336H | Q8IWZ6 | protein_coding | tolerated(0.1) | benign(0.009) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| Page: 1 2 3 4 5 6 7 8 9 |
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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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