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Gene: BBC3 |
Gene summary for BBC3 |
Gene summary. |
Gene information | Species | Human | Gene symbol | BBC3 | Gene ID | 27113 |
Gene name | BCL2 binding component 3 | |
Gene Alias | JFY-1 | |
Cytomap | 19q13.32 | |
Gene Type | protein-coding | GO ID | GO:0001836 | UniProtAcc | Q96PG8 |
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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 |
27113 | BBC3 | SYSMH3 | Human | Oral cavity | OSCC | 2.30e-08 | 3.55e-01 | 0.2442 |
27113 | BBC3 | SYSMH4 | Human | Oral cavity | OSCC | 1.36e-25 | 6.04e-01 | 0.1226 |
27113 | BBC3 | SYSMH6 | Human | Oral cavity | OSCC | 3.32e-11 | 4.92e-01 | 0.1275 |
27113 | BBC3 | GSM5252133_BPH389PrSF | Human | Prostate | BPH | 2.33e-08 | 9.05e-01 | -0.2027 |
27113 | BBC3 | GSM5252135_BPH511PrPUr_Fcol_3GEX | Human | Prostate | BPH | 1.08e-05 | 6.68e-01 | -0.1833 |
27113 | BBC3 | 047563_1562-all-cells | Human | Prostate | BPH | 2.34e-06 | -2.06e-01 | 0.0791 |
27113 | BBC3 | Dong_P1 | Human | Prostate | Tumor | 3.37e-30 | 5.02e-01 | 0.035 |
27113 | BBC3 | Dong_P3 | Human | Prostate | Tumor | 1.94e-05 | -1.29e-01 | 0.0278 |
27113 | BBC3 | Dong_P4 | Human | Prostate | Tumor | 4.67e-02 | -5.84e-02 | 0.0292 |
27113 | BBC3 | Dong_P5 | Human | Prostate | Tumor | 7.61e-16 | -1.33e-01 | 0.053 |
27113 | BBC3 | Dong_P6 | Human | Prostate | Tumor | 2.73e-02 | -1.68e-01 | 0.0371 |
27113 | BBC3 | GSM5353222_PA_PB2B_Pool_1_3_S52_L002 | Human | Prostate | Tumor | 2.78e-05 | -2.98e-01 | 0.1608 |
27113 | BBC3 | GSM5353223_PA_PB2B_Pool_2_S26_L001 | Human | Prostate | Tumor | 2.89e-02 | -3.19e-01 | 0.1604 |
27113 | BBC3 | GSM5353227_PA_PR5199-193K_Pool_1_2_3_S55_L002 | Human | Prostate | Tumor | 2.05e-02 | -2.91e-01 | 0.1602 |
27113 | BBC3 | GSM5353240_PA_PR5254_T1_S15_L001 | Human | Prostate | Tumor | 6.20e-07 | -2.60e-01 | 0.1575 |
27113 | BBC3 | GSM5353243_PA_PR5261_T1_S23_L002 | Human | Prostate | Tumor | 6.46e-10 | -2.59e-01 | 0.1545 |
27113 | BBC3 | GSM5353244_PA_PR5261_T2_S24_L002 | Human | Prostate | Tumor | 1.05e-07 | -2.54e-01 | 0.1569 |
27113 | BBC3 | male-WTA | Human | Thyroid | PTC | 1.13e-11 | 1.53e-01 | 0.1037 |
27113 | BBC3 | PTC01 | Human | Thyroid | PTC | 2.66e-05 | 1.52e-01 | 0.1899 |
27113 | BBC3 | PTC04 | Human | Thyroid | PTC | 1.21e-04 | 1.53e-01 | 0.1927 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00971939 | Breast | Precancer | intrinsic apoptotic signaling pathway | 59/1080 | 288/18723 | 8.07e-18 | 3.60e-15 | 59 |
GO:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
GO:20012429 | Breast | Precancer | regulation of intrinsic apoptotic signaling pathway | 41/1080 | 164/18723 | 6.48e-16 | 2.31e-13 | 41 |
GO:00525479 | Breast | Precancer | regulation of peptidase activity | 71/1080 | 461/18723 | 2.72e-14 | 6.94e-12 | 71 |
GO:00525489 | Breast | Precancer | regulation of endopeptidase activity | 67/1080 | 432/18723 | 1.06e-13 | 2.36e-11 | 67 |
GO:20001169 | Breast | Precancer | regulation of cysteine-type endopeptidase activity | 43/1080 | 235/18723 | 1.30e-11 | 1.83e-09 | 43 |
GO:00068398 | Breast | Precancer | mitochondrial transport | 45/1080 | 254/18723 | 1.37e-11 | 1.88e-09 | 45 |
GO:00432819 | Breast | Precancer | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 40/1080 | 209/18723 | 1.59e-11 | 2.07e-09 | 40 |
GO:00458629 | Breast | Precancer | positive regulation of proteolysis | 51/1080 | 372/18723 | 7.77e-09 | 5.70e-07 | 51 |
GO:20012445 | Breast | Precancer | positive regulation of intrinsic apoptotic signaling pathway | 17/1080 | 58/18723 | 1.59e-08 | 1.12e-06 | 17 |
GO:00109529 | Breast | Precancer | positive regulation of peptidase activity | 33/1080 | 197/18723 | 3.01e-08 | 1.89e-06 | 33 |
GO:00086378 | Breast | Precancer | apoptotic mitochondrial changes | 23/1080 | 107/18723 | 3.44e-08 | 2.12e-06 | 23 |
GO:00349769 | Breast | Precancer | response to endoplasmic reticulum stress | 38/1080 | 256/18723 | 7.89e-08 | 4.60e-06 | 38 |
GO:20012356 | Breast | Precancer | positive regulation of apoptotic signaling pathway | 24/1080 | 126/18723 | 1.98e-07 | 1.01e-05 | 24 |
GO:00432808 | Breast | Precancer | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 24/1080 | 129/18723 | 3.13e-07 | 1.50e-05 | 24 |
GO:00109509 | Breast | Precancer | positive regulation of endopeptidase activity | 29/1080 | 179/18723 | 4.23e-07 | 1.90e-05 | 29 |
GO:20010568 | Breast | Precancer | positive regulation of cysteine-type endopeptidase activity | 25/1080 | 148/18723 | 1.19e-06 | 4.60e-05 | 25 |
GO:00018367 | Breast | Precancer | release of cytochrome c from mitochondria | 14/1080 | 59/18723 | 4.80e-06 | 1.47e-04 | 14 |
GO:00705858 | Breast | Precancer | protein localization to mitochondrion | 21/1080 | 125/18723 | 9.07e-06 | 2.42e-04 | 21 |
GO:00070066 | Breast | Precancer | mitochondrial membrane organization | 20/1080 | 116/18723 | 9.88e-06 | 2.61e-04 | 20 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501616 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
hsa042108 | Breast | Precancer | Apoptosis | 25/684 | 136/8465 | 7.61e-05 | 6.87e-04 | 5.26e-04 | 25 |
hsa0501617 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
hsa0421013 | Breast | Precancer | Apoptosis | 25/684 | 136/8465 | 7.61e-05 | 6.87e-04 | 5.26e-04 | 25 |
hsa0501623 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
hsa0421022 | Breast | IDC | Apoptosis | 31/867 | 136/8465 | 1.34e-05 | 1.61e-04 | 1.20e-04 | 31 |
hsa052109 | Breast | IDC | Colorectal cancer | 17/867 | 86/8465 | 5.70e-03 | 3.13e-02 | 2.34e-02 | 17 |
hsa0501633 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
hsa0421032 | Breast | IDC | Apoptosis | 31/867 | 136/8465 | 1.34e-05 | 1.61e-04 | 1.20e-04 | 31 |
hsa0521014 | Breast | IDC | Colorectal cancer | 17/867 | 86/8465 | 5.70e-03 | 3.13e-02 | 2.34e-02 | 17 |
hsa0501643 | Breast | DCIS | Huntington disease | 101/846 | 306/8465 | 1.54e-29 | 1.24e-27 | 9.13e-28 | 101 |
hsa0421041 | Breast | DCIS | Apoptosis | 29/846 | 136/8465 | 5.92e-05 | 5.97e-04 | 4.40e-04 | 29 |
hsa0411521 | Breast | DCIS | p53 signaling pathway | 16/846 | 74/8465 | 2.23e-03 | 1.47e-02 | 1.08e-02 | 16 |
hsa0521024 | Breast | DCIS | Colorectal cancer | 16/846 | 86/8465 | 1.03e-02 | 4.50e-02 | 3.32e-02 | 16 |
hsa0501653 | Breast | DCIS | Huntington disease | 101/846 | 306/8465 | 1.54e-29 | 1.24e-27 | 9.13e-28 | 101 |
hsa0421051 | Breast | DCIS | Apoptosis | 29/846 | 136/8465 | 5.92e-05 | 5.97e-04 | 4.40e-04 | 29 |
hsa0411531 | Breast | DCIS | p53 signaling pathway | 16/846 | 74/8465 | 2.23e-03 | 1.47e-02 | 1.08e-02 | 16 |
hsa0521034 | Breast | DCIS | Colorectal cancer | 16/846 | 86/8465 | 1.03e-02 | 4.50e-02 | 3.32e-02 | 16 |
hsa05016 | Colorectum | AD | Huntington disease | 147/2092 | 306/8465 | 1.93e-19 | 9.26e-18 | 5.91e-18 | 147 |
hsa05210 | Colorectum | AD | Colorectal cancer | 35/2092 | 86/8465 | 7.54e-04 | 5.49e-03 | 3.50e-03 | 35 |
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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 |
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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. |
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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 |
BBC3 | deletion | Frame_Shift_Del | c.667delN | p.Arg223GlufsTer6 | p.R223Efs*6 | Q96PG8 | protein_coding | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | PD | |||
BBC3 | SNV | Missense_Mutation | rs769349350 | c.692G>A | p.Cys231Tyr | p.C231Y | Q96PG8 | protein_coding | tolerated_low_confidence(0.07) | benign(0.005) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | novel | c.649N>G | p.Gln217Glu | p.Q217E | Q96PG8 | protein_coding | deleterious_low_confidence(0.01) | benign(0.085) | TCGA-AJ-A3IA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | novel | c.776N>A | p.Cys259Tyr | p.C259Y | Q96PG8 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.918) | TCGA-AJ-A3NE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | c.685N>T | p.Gly229Cys | p.G229C | Q96PG8 | protein_coding | deleterious_low_confidence(0) | benign(0.182) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
BBC3 | SNV | Missense_Mutation | novel | c.84N>G | p.Ile28Met | p.I28M | Q96PG8 | protein_coding | tolerated_low_confidence(0.1) | benign(0.009) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BBC3 | deletion | Frame_Shift_Del | novel | c.725delN | p.Gly242AlafsTer48 | p.G242Afs*48 | Q96PG8 | protein_coding | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD | ||
BBC3 | SNV | Missense_Mutation | rs747649341 | c.694A>G | p.Thr232Ala | p.T232A | Q96PG8 | protein_coding | tolerated_low_confidence(0.05) | benign(0.062) | TCGA-69-7973-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
BBC3 | SNV | Missense_Mutation | rs755414185 | c.698G>A | p.Arg233His | p.R233H | Q96PG8 | protein_coding | deleterious_low_confidence(0.01) | benign(0.044) | TCGA-MP-A4SV-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BBC3 | SNV | Missense_Mutation | c.656N>T | p.Pro219Leu | p.P219L | Q96PG8 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.625) | TCGA-18-3408-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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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 |
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