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Gene: BBS1 |
Gene summary for BBS1 |
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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 |
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Malignant transformation analysis |
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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 |
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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. |
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Malignant transformation related pathway analysis |
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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). |
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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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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. |
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Somatic mutation of malignant transformation related genes |
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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 | novel | c.919N>G | p.Thr307Ala | p.T307A | Q8NFJ9 | protein_coding | tolerated(0.19) | benign(0.033) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
BBS1 | SNV | Missense_Mutation | novel | c.412N>A | p.Leu138Ile | p.L138I | Q8NFJ9 | protein_coding | tolerated(0.12) | benign(0.07) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BBS1 | SNV | Missense_Mutation | novel | c.1208N>C | p.Lys403Thr | p.K403T | Q8NFJ9 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
BBS1 | SNV | Missense_Mutation | rs747459381 | c.1066N>T | p.Arg356Cys | p.R356C | Q8NFJ9 | protein_coding | tolerated(0.06) | possibly_damaging(0.721) | TCGA-EO-A3AU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
BBS1 | SNV | Missense_Mutation | rs535565890 | c.1591N>T | p.Pro531Ser | p.P531S | Q8NFJ9 | protein_coding | tolerated(0.52) | benign(0.083) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BBS1 | SNV | Missense_Mutation | c.479N>T | p.Arg160Leu | p.R160L | Q8NFJ9 | protein_coding | tolerated(0.05) | probably_damaging(0.977) | TCGA-EP-A2KA-01 | Liver | liver hepatocellular carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | sorafenib | PD | |
BBS1 | SNV | Missense_Mutation | novel | c.295N>T | p.Pro99Ser | p.P99S | Q8NFJ9 | protein_coding | deleterious(0.01) | probably_damaging(0.97) | TCGA-55-7574-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
BBS1 | SNV | Missense_Mutation | novel | c.391C>G | p.Pro131Ala | p.P131A | Q8NFJ9 | protein_coding | tolerated(0.22) | benign(0) | TCGA-63-A5MS-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BBS1 | SNV | Missense_Mutation | novel | c.251N>T | p.Ala84Val | p.A84V | Q8NFJ9 | protein_coding | deleterious(0.02) | benign(0.049) | TCGA-CN-A6V7-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | CR |
BBS1 | SNV | Missense_Mutation | novel | c.778N>C | p.Glu260Gln | p.E260Q | Q8NFJ9 | protein_coding | deleterious(0.01) | possibly_damaging(0.661) | TCGA-CV-A45U-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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