|
|||||
|
 | |
| |
| |
| |
| |
| |
|
Gene: BBS1 |
Gene summary for BBS1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BBS1 | Gene ID | 582 |
| Gene name | Bardet-Biedl syndrome 1 | |
| Gene Alias | BBS2L2 | |
| Cytomap | 11q13.2 | |
| Gene Type | protein-coding | GO ID | GO:0001894 | UniProtAcc | Q8NFJ9 |
Top |
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 |
| 582 | BBS1 | LZE20T | Human | Esophagus | ESCC | 2.95e-06 | 2.14e-01 | 0.0662 |
| 582 | BBS1 | LZE24T | Human | Esophagus | ESCC | 4.35e-08 | 2.07e-01 | 0.0596 |
| 582 | BBS1 | P2T-E | Human | Esophagus | ESCC | 9.02e-11 | 2.34e-01 | 0.1177 |
| 582 | BBS1 | P4T-E | Human | Esophagus | ESCC | 1.75e-05 | 1.51e-01 | 0.1323 |
| 582 | BBS1 | P5T-E | Human | Esophagus | ESCC | 7.90e-03 | 8.51e-02 | 0.1327 |
| 582 | BBS1 | P8T-E | Human | Esophagus | ESCC | 1.76e-12 | 2.64e-01 | 0.0889 |
| 582 | BBS1 | P10T-E | Human | Esophagus | ESCC | 2.05e-07 | 1.70e-01 | 0.116 |
| 582 | BBS1 | P11T-E | Human | Esophagus | ESCC | 9.07e-04 | 2.03e-01 | 0.1426 |
| 582 | BBS1 | P12T-E | Human | Esophagus | ESCC | 4.12e-11 | 1.99e-01 | 0.1122 |
| 582 | BBS1 | P15T-E | Human | Esophagus | ESCC | 4.72e-09 | 2.04e-01 | 0.1149 |
| 582 | BBS1 | P16T-E | Human | Esophagus | ESCC | 9.78e-30 | 5.34e-01 | 0.1153 |
| 582 | BBS1 | P19T-E | Human | Esophagus | ESCC | 5.57e-05 | 3.09e-01 | 0.1662 |
| 582 | BBS1 | P21T-E | Human | Esophagus | ESCC | 2.02e-06 | 1.56e-01 | 0.1617 |
| 582 | BBS1 | P22T-E | Human | Esophagus | ESCC | 1.78e-03 | 1.14e-01 | 0.1236 |
| 582 | BBS1 | P23T-E | Human | Esophagus | ESCC | 1.48e-05 | 1.51e-01 | 0.108 |
| 582 | BBS1 | P24T-E | Human | Esophagus | ESCC | 3.50e-02 | 9.74e-02 | 0.1287 |
| 582 | BBS1 | P26T-E | Human | Esophagus | ESCC | 4.17e-05 | 9.90e-02 | 0.1276 |
| 582 | BBS1 | P27T-E | Human | Esophagus | ESCC | 4.44e-08 | 2.00e-01 | 0.1055 |
| 582 | BBS1 | P28T-E | Human | Esophagus | ESCC | 1.96e-05 | 1.23e-01 | 0.1149 |
| 582 | BBS1 | P30T-E | Human | Esophagus | ESCC | 3.11e-08 | 2.63e-01 | 0.137 |
| Page: 1 2 3 |
| 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 |
| ∗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. |
Top |
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:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
| GO:0090150110 | Esophagus | ESCC | establishment of protein localization to membrane | 182/8552 | 260/18723 | 1.27e-15 | 8.19e-14 | 182 |
| GO:0072659110 | Esophagus | ESCC | protein localization to plasma membrane | 193/8552 | 284/18723 | 1.95e-14 | 1.03e-12 | 193 |
| GO:199077819 | Esophagus | ESCC | protein localization to cell periphery | 217/8552 | 333/18723 | 4.08e-13 | 1.88e-11 | 217 |
| GO:000689215 | Esophagus | ESCC | post-Golgi vesicle-mediated transport | 82/8552 | 104/18723 | 4.00e-12 | 1.55e-10 | 82 |
| GO:009887615 | Esophagus | ESCC | vesicle-mediated transport to the plasma membrane | 99/8552 | 136/18723 | 1.13e-10 | 3.39e-09 | 99 |
| GO:000689315 | Esophagus | ESCC | Golgi to plasma membrane transport | 48/8552 | 60/18723 | 5.11e-08 | 9.16e-07 | 48 |
| GO:004300114 | Esophagus | ESCC | Golgi to plasma membrane protein transport | 34/8552 | 40/18723 | 3.00e-07 | 4.27e-06 | 34 |
| GO:006195114 | Esophagus | ESCC | establishment of protein localization to plasma membrane | 44/8552 | 60/18723 | 1.25e-05 | 1.15e-04 | 44 |
| GO:19055153 | Esophagus | ESCC | non-motile cilium assembly | 39/8552 | 61/18723 | 3.08e-03 | 1.28e-02 | 39 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
Top |
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 |
Top |
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 |
Top |
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 |
| BBS1 | SNV | Missense_Mutation | c.875N>A | p.Pro292His | p.P292H | Q8NFJ9 | protein_coding | deleterious(0) | possibly_damaging(0.891) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| BBS1 | SNV | Missense_Mutation | c.790G>T | p.Ala264Ser | p.A264S | Q8NFJ9 | protein_coding | deleterious(0.02) | benign(0.049) | TCGA-BH-A0BS-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | CR | |
| BBS1 | deletion | In_Frame_Del | novel | c.1301_1315delNNNNNNNNNNNNNNN | p.Tyr434_Thr438del | p.Y434_T438del | Q8NFJ9 | protein_coding | TCGA-AC-A23G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR | ||
| BBS1 | insertion | Nonsense_Mutation | novel | c.1323_1324insACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGA | p.Glu441_Arg442insThrLeuAspGlnAlaLeuThrGlnArgSerTyrTer | p.E441_R442insTLDQALTQRSY* | Q8NFJ9 | protein_coding | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
| BBS1 | SNV | Missense_Mutation | rs202205304 | c.1535N>A | p.Arg512His | p.R512H | Q8NFJ9 | protein_coding | tolerated(0.09) | possibly_damaging(0.871) | TCGA-DS-A0VN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| BBS1 | SNV | Missense_Mutation | c.1009G>A | p.Glu337Lys | p.E337K | Q8NFJ9 | protein_coding | tolerated(0.06) | benign(0.21) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR | |
| BBS1 | SNV | Missense_Mutation | c.469N>C | p.Glu157Gln | p.E157Q | Q8NFJ9 | protein_coding | tolerated(0.1) | possibly_damaging(0.827) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| BBS1 | SNV | Missense_Mutation | novel | c.95N>T | p.Ala32Val | p.A32V | Q8NFJ9 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| BBS1 | SNV | Missense_Mutation | c.1063N>A | p.Val355Ile | p.V355I | Q8NFJ9 | protein_coding | tolerated(0.34) | benign(0.082) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD | |
| BBS1 | SNV | Missense_Mutation | c.1263N>T | p.Gln421His | p.Q421H | Q8NFJ9 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD |
| Page: 1 2 3 4 5 |
Top |
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 |
Copyright 2023-Present -The University of Texas Health Science Center at Houston |