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Gene: BTBD2 |
Gene summary for BTBD2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | BTBD2 | Gene ID | 55643 |
Gene name | BTB domain containing 2 | |
Gene Alias | BTBD2 | |
Cytomap | 19p13.3 | |
Gene Type | protein-coding | GO ID | GO:0007275 | UniProtAcc | Q9BX70 |
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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 |
55643 | BTBD2 | P54T-E | Human | Esophagus | ESCC | 3.84e-12 | 3.04e-01 | 0.0975 |
55643 | BTBD2 | P56T-E | Human | Esophagus | ESCC | 8.83e-03 | 2.08e-01 | 0.1613 |
55643 | BTBD2 | P57T-E | Human | Esophagus | ESCC | 4.57e-12 | 1.04e-01 | 0.0926 |
55643 | BTBD2 | P61T-E | Human | Esophagus | ESCC | 3.31e-12 | 2.37e-01 | 0.099 |
55643 | BTBD2 | P62T-E | Human | Esophagus | ESCC | 2.62e-16 | 2.58e-01 | 0.1302 |
55643 | BTBD2 | P65T-E | Human | Esophagus | ESCC | 3.81e-09 | 5.49e-02 | 0.0978 |
55643 | BTBD2 | P74T-E | Human | Esophagus | ESCC | 1.17e-03 | 1.61e-01 | 0.1479 |
55643 | BTBD2 | P75T-E | Human | Esophagus | ESCC | 8.49e-18 | 2.91e-01 | 0.1125 |
55643 | BTBD2 | P76T-E | Human | Esophagus | ESCC | 9.36e-05 | 1.98e-02 | 0.1207 |
55643 | BTBD2 | P79T-E | Human | Esophagus | ESCC | 1.46e-08 | 2.29e-02 | 0.1154 |
55643 | BTBD2 | P80T-E | Human | Esophagus | ESCC | 3.09e-11 | 4.10e-01 | 0.155 |
55643 | BTBD2 | P82T-E | Human | Esophagus | ESCC | 2.71e-04 | 1.75e-01 | 0.1072 |
55643 | BTBD2 | P83T-E | Human | Esophagus | ESCC | 4.24e-11 | 2.85e-01 | 0.1738 |
55643 | BTBD2 | P89T-E | Human | Esophagus | ESCC | 6.27e-13 | 9.20e-01 | 0.1752 |
55643 | BTBD2 | P91T-E | Human | Esophagus | ESCC | 2.23e-11 | 7.12e-01 | 0.1828 |
55643 | BTBD2 | P104T-E | Human | Esophagus | ESCC | 5.29e-06 | 2.11e-01 | 0.0931 |
55643 | BTBD2 | P107T-E | Human | Esophagus | ESCC | 2.52e-19 | 3.92e-01 | 0.171 |
55643 | BTBD2 | P126T-E | Human | Esophagus | ESCC | 2.35e-05 | 2.71e-01 | 0.1125 |
55643 | BTBD2 | P127T-E | Human | Esophagus | ESCC | 2.08e-08 | 8.24e-02 | 0.0826 |
55643 | BTBD2 | P128T-E | Human | Esophagus | ESCC | 7.15e-13 | 4.77e-01 | 0.1241 |
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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:004343420 | Esophagus | HGIN | response to peptide hormone | 79/2587 | 414/18723 | 1.60e-03 | 1.79e-02 | 79 |
GO:00059969 | Esophagus | ESCC | monosaccharide metabolic process | 159/8552 | 257/18723 | 1.11e-07 | 1.81e-06 | 159 |
GO:00193189 | Esophagus | ESCC | hexose metabolic process | 147/8552 | 237/18723 | 2.63e-07 | 3.94e-06 | 147 |
GO:0043434111 | Esophagus | ESCC | response to peptide hormone | 234/8552 | 414/18723 | 4.93e-06 | 5.21e-05 | 234 |
GO:003286818 | Esophagus | ESCC | response to insulin | 156/8552 | 264/18723 | 7.21e-06 | 7.20e-05 | 156 |
GO:00060069 | Esophagus | ESCC | glucose metabolic process | 119/8552 | 196/18723 | 1.51e-05 | 1.36e-04 | 119 |
GO:003286821 | Liver | HCC | response to insulin | 172/7958 | 264/18723 | 7.14e-14 | 4.23e-12 | 172 |
GO:000599621 | Liver | HCC | monosaccharide metabolic process | 167/7958 | 257/18723 | 2.31e-13 | 1.25e-11 | 167 |
GO:001931821 | Liver | HCC | hexose metabolic process | 155/7958 | 237/18723 | 7.63e-13 | 3.90e-11 | 155 |
GO:004343422 | Liver | HCC | response to peptide hormone | 247/7958 | 414/18723 | 9.55e-13 | 4.77e-11 | 247 |
GO:000600621 | Liver | HCC | glucose metabolic process | 128/7958 | 196/18723 | 8.60e-11 | 3.06e-09 | 128 |
GO:004343419 | Oral cavity | OSCC | response to peptide hormone | 208/7305 | 414/18723 | 1.83e-06 | 2.35e-05 | 208 |
GO:003286816 | Oral cavity | OSCC | response to insulin | 138/7305 | 264/18723 | 7.54e-06 | 8.15e-05 | 138 |
GO:00059968 | Oral cavity | OSCC | monosaccharide metabolic process | 129/7305 | 257/18723 | 1.63e-04 | 1.13e-03 | 129 |
GO:00193188 | Oral cavity | OSCC | hexose metabolic process | 118/7305 | 237/18723 | 4.53e-04 | 2.73e-03 | 118 |
GO:00060068 | Oral cavity | OSCC | glucose metabolic process | 98/7305 | 196/18723 | 1.10e-03 | 5.63e-03 | 98 |
GO:0043434110 | Oral cavity | LP | response to peptide hormone | 138/4623 | 414/18723 | 4.00e-05 | 5.87e-04 | 138 |
GO:000599613 | Oral cavity | LP | monosaccharide metabolic process | 86/4623 | 257/18723 | 9.13e-04 | 7.79e-03 | 86 |
GO:003286817 | Oral cavity | LP | response to insulin | 88/4623 | 264/18723 | 9.19e-04 | 7.82e-03 | 88 |
GO:001931813 | Oral cavity | LP | hexose metabolic process | 78/4623 | 237/18723 | 2.55e-03 | 1.80e-02 | 78 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
BTBD2 | SNV | Missense_Mutation | novel | c.833N>A | p.Arg278His | p.R278H | Q9BX70 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AC-A4ZE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BTBD2 | SNV | Missense_Mutation | c.689N>A | p.Arg230Gln | p.R230Q | Q9BX70 | protein_coding | deleterious(0.05) | probably_damaging(0.994) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
BTBD2 | SNV | Missense_Mutation | rs746291159 | c.1183T>G | p.Phe395Val | p.F395V | Q9BX70 | protein_coding | deleterious(0.01) | possibly_damaging(0.855) | TCGA-EW-A1J2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
BTBD2 | insertion | Nonsense_Mutation | novel | c.488_489insTTCACTGTGTTAGTCAGGATG | p.Leu163_Pro164insSerLeuCysTerSerGlyTrp | p.L163_P164insSLC*SGW | Q9BX70 | protein_coding | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR | ||
BTBD2 | deletion | Frame_Shift_Del | novel | c.1552delN | p.Ile518SerfsTer22 | p.I518Sfs*22 | Q9BX70 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
BTBD2 | SNV | Missense_Mutation | novel | c.824N>C | p.Leu275Pro | p.L275P | Q9BX70 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BTBD2 | SNV | Missense_Mutation | c.686N>T | p.Ala229Val | p.A229V | Q9BX70 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
BTBD2 | SNV | Missense_Mutation | rs141098024 | c.412N>A | p.Val138Met | p.V138M | Q9BX70 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-DM-A1HB-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
BTBD2 | SNV | Missense_Mutation | c.1127N>A | p.Arg376His | p.R376H | Q9BX70 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-G4-6317-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | fluorouracil | PD | |
BTBD2 | SNV | Missense_Mutation | c.1044N>A | p.His348Gln | p.H348Q | Q9BX70 | protein_coding | deleterious(0.01) | possibly_damaging(0.899) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
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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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