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Gene: ARID5B |
Gene summary for ARID5B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ARID5B | Gene ID | 84159 |
| Gene name | AT-rich interaction domain 5B | |
| Gene Alias | DESRT | |
| Cytomap | 10q21.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q14865 |
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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 |
| 84159 | ARID5B | GSM4909281 | Human | Breast | IDC | 8.67e-10 | -4.29e-01 | 0.21 |
| 84159 | ARID5B | GSM4909282 | Human | Breast | IDC | 2.18e-07 | -3.80e-01 | -0.0288 |
| 84159 | ARID5B | GSM4909285 | Human | Breast | IDC | 3.50e-03 | -2.16e-01 | 0.21 |
| 84159 | ARID5B | GSM4909286 | Human | Breast | IDC | 3.96e-08 | -2.91e-01 | 0.1081 |
| 84159 | ARID5B | GSM4909287 | Human | Breast | IDC | 2.18e-11 | -4.90e-01 | 0.2057 |
| 84159 | ARID5B | GSM4909288 | Human | Breast | IDC | 1.26e-03 | -5.59e-01 | 0.0988 |
| 84159 | ARID5B | GSM4909290 | Human | Breast | IDC | 1.76e-02 | -3.41e-01 | 0.2096 |
| 84159 | ARID5B | GSM4909291 | Human | Breast | IDC | 6.20e-04 | -4.32e-01 | 0.1753 |
| 84159 | ARID5B | GSM4909293 | Human | Breast | IDC | 9.40e-06 | 1.24e-01 | 0.1581 |
| 84159 | ARID5B | GSM4909294 | Human | Breast | IDC | 2.55e-03 | -3.07e-01 | 0.2022 |
| 84159 | ARID5B | GSM4909295 | Human | Breast | IDC | 3.18e-02 | -3.69e-01 | 0.0898 |
| 84159 | ARID5B | GSM4909296 | Human | Breast | IDC | 1.59e-07 | -4.04e-01 | 0.1524 |
| 84159 | ARID5B | GSM4909297 | Human | Breast | IDC | 1.07e-07 | -3.39e-01 | 0.1517 |
| 84159 | ARID5B | GSM4909298 | Human | Breast | IDC | 1.63e-04 | -3.55e-01 | 0.1551 |
| 84159 | ARID5B | GSM4909301 | Human | Breast | IDC | 9.42e-24 | -6.39e-01 | 0.1577 |
| 84159 | ARID5B | GSM4909302 | Human | Breast | IDC | 7.54e-20 | -5.70e-01 | 0.1545 |
| 84159 | ARID5B | GSM4909304 | Human | Breast | IDC | 3.15e-27 | -6.25e-01 | 0.1636 |
| 84159 | ARID5B | GSM4909307 | Human | Breast | IDC | 3.32e-04 | -3.32e-01 | 0.1569 |
| 84159 | ARID5B | GSM4909308 | Human | Breast | IDC | 6.51e-11 | -5.10e-01 | 0.158 |
| 84159 | ARID5B | GSM4909311 | Human | Breast | IDC | 7.69e-26 | -5.38e-01 | 0.1534 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| 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 | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| 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 |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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:001076115 | Thyroid | PTC | fibroblast migration | 28/5968 | 47/18723 | 8.25e-05 | 7.00e-04 | 28 |
| GO:0061458112 | Thyroid | PTC | reproductive system development | 173/5968 | 427/18723 | 8.70e-05 | 7.23e-04 | 173 |
| GO:0048608111 | Thyroid | PTC | reproductive structure development | 170/5968 | 424/18723 | 1.86e-04 | 1.41e-03 | 170 |
| GO:005109115 | Thyroid | PTC | positive regulation of DNA-binding transcription factor activity | 107/5968 | 260/18723 | 9.44e-04 | 5.70e-03 | 107 |
| GO:00603244 | Thyroid | PTC | face development | 24/5968 | 44/18723 | 1.52e-03 | 8.49e-03 | 24 |
| GO:00603255 | Thyroid | PTC | face morphogenesis | 17/5968 | 28/18723 | 1.55e-03 | 8.63e-03 | 17 |
| GO:00101713 | Thyroid | PTC | body morphogenesis | 23/5968 | 43/18723 | 2.66e-03 | 1.35e-02 | 23 |
| GO:00603234 | Thyroid | PTC | head morphogenesis | 18/5968 | 32/18723 | 3.72e-03 | 1.79e-02 | 18 |
| GO:004654612 | Thyroid | PTC | development of primary male sexual characteristics | 60/5968 | 142/18723 | 5.79e-03 | 2.61e-02 | 60 |
| GO:00352648 | Thyroid | PTC | multicellular organism growth | 56/5968 | 132/18723 | 6.79e-03 | 2.92e-02 | 56 |
| GO:199082310 | Thyroid | PTC | response to leukemia inhibitory factor | 42/5968 | 95/18723 | 7.69e-03 | 3.27e-02 | 42 |
| GO:000858412 | Thyroid | PTC | male gonad development | 59/5968 | 141/18723 | 7.88e-03 | 3.33e-02 | 59 |
| GO:199083010 | Thyroid | PTC | cellular response to leukemia inhibitory factor | 41/5968 | 94/18723 | 1.10e-02 | 4.38e-02 | 41 |
| GO:000166731 | Thyroid | ATC | ameboidal-type cell migration | 228/6293 | 475/18723 | 3.72e-11 | 1.22e-09 | 228 |
| GO:004873233 | Thyroid | ATC | gland development | 210/6293 | 436/18723 | 1.50e-10 | 4.59e-09 | 210 |
| GO:000188927 | Thyroid | ATC | liver development | 85/6293 | 147/18723 | 1.37e-09 | 3.43e-08 | 85 |
| GO:006100827 | Thyroid | ATC | hepaticobiliary system development | 86/6293 | 150/18723 | 1.96e-09 | 4.78e-08 | 86 |
| GO:000182222 | Thyroid | ATC | kidney development | 146/6293 | 293/18723 | 5.81e-09 | 1.28e-07 | 146 |
| GO:000165522 | Thyroid | ATC | urogenital system development | 164/6293 | 338/18723 | 7.92e-09 | 1.70e-07 | 164 |
| GO:007200122 | Thyroid | ATC | renal system development | 149/6293 | 302/18723 | 9.48e-09 | 1.99e-07 | 149 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 |
| 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 |
| ARID5B | BMEM | Colorectum | MSI-H | ANKRD44,SSPN,BCL2, etc. | 2.02e-01 |  |
| ARID5B | GLAN | Endometrium | EEC | THBS1,GREM1,HBEGF, etc. | 2.82e-01 |  |
| ARID5B | TREG | Lung | AAH | TRAT1,RHOH,PVT1, etc. | 5.91e-02 |  |
| ARID5B | CD4TN | Lung | AAH | TRAT1,RHOH,PVT1, etc. | 6.15e-03 | |
| ARID5B | MALTB | Oral cavity | LP | SMAP2,ELF1,RHOH, etc. | 5.14e-02 |  |
| ARID5B | TREG | Oral cavity | NEOLP | SMAP2,ELF1,RHOH, etc. | 2.12e-01 |  |
| ∗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 |
| ARID5B | SNV | Missense_Mutation | c.1591N>C | p.Glu531Gln | p.E531Q | Q14865 | protein_coding | tolerated(0.3) | benign(0.195) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| ARID5B | SNV | Missense_Mutation | c.376N>A | p.Ala126Thr | p.A126T | Q14865 | protein_coding | tolerated(0.08) | benign(0.003) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ARID5B | SNV | Missense_Mutation | c.2843N>A | p.Arg948Gln | p.R948Q | Q14865 | protein_coding | tolerated(0.42) | possibly_damaging(0.47) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| ARID5B | SNV | Missense_Mutation | c.3464N>A | p.Gly1155Glu | p.G1155E | Q14865 | protein_coding | deleterious(0.03) | benign(0.204) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| ARID5B | SNV | Missense_Mutation | novel | c.3344N>A | p.Leu1115His | p.L1115H | Q14865 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A1FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
| ARID5B | SNV | Missense_Mutation | c.2175N>C | p.Arg725Ser | p.R725S | Q14865 | protein_coding | tolerated(0.42) | benign(0.078) | TCGA-D8-A1JF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| ARID5B | SNV | Missense_Mutation | c.652N>T | p.Arg218Trp | p.R218W | Q14865 | protein_coding | deleterious(0.01) | benign(0.445) | TCGA-D8-A1Y0-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide+methotrexatum+fluorouracillum | SD | |
| ARID5B | SNV | Missense_Mutation | c.785G>A | p.Arg262Lys | p.R262K | Q14865 | protein_coding | deleterious(0.02) | benign(0.204) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| ARID5B | insertion | Frame_Shift_Ins | novel | c.1958_1959insCTTTACTTTTTTCTGCCTA | p.Asp655ThrfsTer7 | p.D655Tfs*7 | Q14865 | protein_coding | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD | ||
| ARID5B | SNV | Missense_Mutation | novel | c.1519C>T | p.Pro507Ser | p.P507S | Q14865 | protein_coding | tolerated(0.68) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
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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 |
| 84159 | ARID5B | CLINICALLY ACTIONABLE | haloperidol | HALOPERIDOL | 27023437 | |
| 84159 | ARID5B | CLINICALLY ACTIONABLE | methotrexate | METHOTREXATE | 24712521 |
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