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Gene: BTBD9 |
Gene summary for BTBD9 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BTBD9 | Gene ID | 114781 |
| Gene name | BTB domain containing 9 | |
| Gene Alias | dJ322I12.1 | |
| Cytomap | 6p21.2 | |
| Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | Q96Q07 |
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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 |
| 114781 | BTBD9 | CCI_1 | Human | Cervix | CC | 2.81e-04 | 5.47e-01 | 0.528 |
| 114781 | BTBD9 | CCI_3 | Human | Cervix | CC | 8.48e-20 | 9.30e-01 | 0.516 |
| 114781 | BTBD9 | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.32e-26 | -6.45e-01 | 0.0155 |
| 114781 | BTBD9 | HTA11_347_2000001011 | Human | Colorectum | AD | 5.70e-05 | 4.85e-01 | -0.1954 |
| 114781 | BTBD9 | HTA11_411_2000001011 | Human | Colorectum | SER | 3.44e-03 | 7.23e-01 | -0.2602 |
| 114781 | BTBD9 | HTA11_7862_2000001011 | Human | Colorectum | AD | 5.35e-06 | -6.12e-01 | -0.0179 |
| 114781 | BTBD9 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.60e-07 | -4.63e-01 | 0.096 |
| 114781 | BTBD9 | HTA11_8622_2000001021 | Human | Colorectum | SER | 3.73e-04 | -6.08e-01 | 0.0528 |
| 114781 | BTBD9 | HTA11_6801_2000001011 | Human | Colorectum | SER | 7.68e-03 | -6.21e-01 | 0.0171 |
| 114781 | BTBD9 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.99e-04 | -3.78e-01 | 0.0674 |
| 114781 | BTBD9 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.23e-18 | -5.94e-01 | 0.294 |
| 114781 | BTBD9 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.47e-06 | -5.84e-01 | 0.2585 |
| 114781 | BTBD9 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.67e-18 | -6.29e-01 | 0.3005 |
| 114781 | BTBD9 | A015-C-203 | Human | Colorectum | FAP | 1.19e-37 | -5.73e-01 | -0.1294 |
| 114781 | BTBD9 | A015-C-204 | Human | Colorectum | FAP | 9.01e-07 | -3.01e-01 | -0.0228 |
| 114781 | BTBD9 | A014-C-040 | Human | Colorectum | FAP | 1.10e-02 | -1.94e-01 | -0.1184 |
| 114781 | BTBD9 | A002-C-201 | Human | Colorectum | FAP | 1.16e-14 | -3.98e-01 | 0.0324 |
| 114781 | BTBD9 | A002-C-203 | Human | Colorectum | FAP | 1.76e-03 | -1.20e-01 | 0.2786 |
| 114781 | BTBD9 | A001-C-119 | Human | Colorectum | FAP | 2.03e-09 | -4.94e-01 | -0.1557 |
| 114781 | BTBD9 | A001-C-108 | Human | Colorectum | FAP | 6.02e-18 | -3.10e-01 | -0.0272 |
| Page: 1 2 3 4 5 6 7 |
| 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 | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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 | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| ∗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:00485118 | Cervix | CC | rhythmic process | 65/2311 | 298/18723 | 2.79e-06 | 8.04e-05 | 65 |
| GO:00301008 | Cervix | CC | regulation of endocytosis | 47/2311 | 211/18723 | 3.65e-05 | 5.82e-04 | 47 |
| GO:00076238 | Cervix | CC | circadian rhythm | 46/2311 | 210/18723 | 6.76e-05 | 9.60e-04 | 46 |
| GO:00484883 | Cervix | CC | synaptic vesicle endocytosis | 16/2311 | 62/18723 | 2.87e-03 | 1.91e-02 | 16 |
| GO:01402383 | Cervix | CC | presynaptic endocytosis | 16/2311 | 62/18723 | 2.87e-03 | 1.91e-02 | 16 |
| GO:00550726 | Cervix | CC | iron ion homeostasis | 19/2311 | 85/18723 | 6.88e-03 | 3.74e-02 | 19 |
| GO:00364655 | Cervix | CC | synaptic vesicle recycling | 17/2311 | 75/18723 | 8.87e-03 | 4.53e-02 | 17 |
| GO:00550768 | Cervix | CC | transition metal ion homeostasis | 27/2311 | 138/18723 | 9.89e-03 | 4.85e-02 | 27 |
| GO:0055076 | Colorectum | AD | transition metal ion homeostasis | 53/3918 | 138/18723 | 1.89e-06 | 5.65e-05 | 53 |
| GO:0007623 | Colorectum | AD | circadian rhythm | 72/3918 | 210/18723 | 4.50e-06 | 1.21e-04 | 72 |
| GO:0048511 | Colorectum | AD | rhythmic process | 94/3918 | 298/18723 | 1.00e-05 | 2.34e-04 | 94 |
| GO:0030100 | Colorectum | AD | regulation of endocytosis | 67/3918 | 211/18723 | 1.42e-04 | 2.01e-03 | 67 |
| GO:0055072 | Colorectum | AD | iron ion homeostasis | 32/3918 | 85/18723 | 2.97e-04 | 3.60e-03 | 32 |
| GO:0099003 | Colorectum | AD | vesicle-mediated transport in synapse | 57/3918 | 200/18723 | 6.53e-03 | 4.06e-02 | 57 |
| GO:00550761 | Colorectum | SER | transition metal ion homeostasis | 41/2897 | 138/18723 | 1.66e-05 | 5.05e-04 | 41 |
| GO:00076231 | Colorectum | SER | circadian rhythm | 54/2897 | 210/18723 | 7.98e-05 | 1.77e-03 | 54 |
| GO:00550721 | Colorectum | SER | iron ion homeostasis | 24/2897 | 85/18723 | 1.91e-03 | 1.93e-02 | 24 |
| GO:00485111 | Colorectum | SER | rhythmic process | 65/2897 | 298/18723 | 2.18e-03 | 2.11e-02 | 65 |
| GO:00301001 | Colorectum | SER | regulation of endocytosis | 48/2897 | 211/18723 | 3.29e-03 | 2.82e-02 | 48 |
| GO:00076232 | Colorectum | MSS | circadian rhythm | 69/3467 | 210/18723 | 4.22e-07 | 1.67e-05 | 69 |
| Page: 1 2 3 4 5 6 |
| 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 |
| BTBD9 | SNV | Missense_Mutation | c.1824N>A | p.Asn608Lys | p.N608K | Q96Q07 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | SD | ||
| BTBD9 | SNV | Missense_Mutation | c.959N>T | p.Ser320Phe | p.S320F | Q96Q07 | protein_coding | deleterious(0.02) | possibly_damaging(0.796) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| BTBD9 | insertion | Frame_Shift_Ins | novel | c.621_622insTACAACAATATTCAAGGGAGTACATGTTATAGAACTTCAG | p.Asn208TyrfsTer17 | p.N208Yfs*17 | Q96Q07 | protein_coding | TCGA-A8-A08X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | PD | ||
| BTBD9 | SNV | Missense_Mutation | novel | c.320A>T | p.Glu107Val | p.E107V | Q96Q07 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| BTBD9 | SNV | Missense_Mutation | c.1738G>A | p.Gly580Ser | p.G580S | Q96Q07 | protein_coding | tolerated_low_confidence(1) | benign(0.007) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| BTBD9 | SNV | Missense_Mutation | c.959N>T | p.Ser320Phe | p.S320F | Q96Q07 | protein_coding | deleterious(0.02) | possibly_damaging(0.796) | TCGA-JW-A5VJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | |
| BTBD9 | SNV | Missense_Mutation | c.982C>G | p.Gln328Glu | p.Q328E | Q96Q07 | protein_coding | tolerated(0.72) | benign(0.085) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| BTBD9 | SNV | Missense_Mutation | c.132N>T | p.Lys44Asn | p.K44N | Q96Q07 | protein_coding | tolerated(0.37) | benign(0.239) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| BTBD9 | SNV | Missense_Mutation | c.1007N>A | p.Arg336Gln | p.R336Q | Q96Q07 | protein_coding | deleterious(0.03) | probably_damaging(0.992) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| BTBD9 | SNV | Missense_Mutation | c.1301N>T | p.Ala434Val | p.A434V | Q96Q07 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 |
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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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