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Gene: BRIP1 |
Gene summary for BRIP1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BRIP1 | Gene ID | 83990 |
| Gene name | BRCA1 interacting helicase 1 | |
| Gene Alias | BACH1 | |
| Cytomap | 17q23.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A024QZ45 |
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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 |
| 83990 | BRIP1 | HSIL_HPV_2 | Human | Cervix | HSIL_HPV | 8.62e-03 | 1.51e-01 | 0.0208 |
| 83990 | BRIP1 | CCI_1 | Human | Cervix | CC | 3.62e-14 | 7.68e-01 | 0.528 |
| 83990 | BRIP1 | CCI_2 | Human | Cervix | CC | 3.28e-07 | 4.76e-01 | 0.5249 |
| 83990 | BRIP1 | CCI_3 | Human | Cervix | CC | 1.50e-20 | 9.83e-01 | 0.516 |
| 83990 | BRIP1 | CCII_1 | Human | Cervix | CC | 2.22e-14 | 4.81e-01 | 0.3249 |
| 83990 | BRIP1 | HCC1_Meng | Human | Liver | HCC | 3.22e-04 | -5.98e-03 | 0.0246 |
| 83990 | BRIP1 | HCC1 | Human | Liver | HCC | 5.52e-11 | 1.40e+00 | 0.5336 |
| 83990 | BRIP1 | HCC2 | Human | Liver | HCC | 4.69e-25 | 1.91e+00 | 0.5341 |
| 83990 | BRIP1 | HCC5 | Human | Liver | HCC | 2.16e-32 | 1.80e+00 | 0.4932 |
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| 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 | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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:007149610 | Cervix | CC | cellular response to external stimulus | 78/2311 | 320/18723 | 1.82e-09 | 1.98e-07 | 78 |
| GO:00316689 | Cervix | CC | cellular response to extracellular stimulus | 59/2311 | 246/18723 | 3.03e-07 | 1.24e-05 | 59 |
| GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
| GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
| GO:003166710 | Cervix | CC | response to nutrient levels | 92/2311 | 474/18723 | 5.80e-06 | 1.42e-04 | 92 |
| GO:00316698 | Cervix | CC | cellular response to nutrient levels | 49/2311 | 215/18723 | 1.32e-05 | 2.68e-04 | 49 |
| GO:19016538 | Cervix | CC | cellular response to peptide | 72/2311 | 359/18723 | 1.89e-05 | 3.48e-04 | 72 |
| GO:19019873 | Cervix | CC | regulation of cell cycle phase transition | 74/2311 | 390/18723 | 9.80e-05 | 1.27e-03 | 74 |
| GO:000166610 | Cervix | CC | response to hypoxia | 61/2311 | 307/18723 | 1.04e-04 | 1.34e-03 | 61 |
| GO:007048210 | Cervix | CC | response to oxygen levels | 67/2311 | 347/18723 | 1.21e-04 | 1.51e-03 | 67 |
| GO:00434349 | Cervix | CC | response to peptide hormone | 77/2311 | 414/18723 | 1.40e-04 | 1.70e-03 | 77 |
| GO:003629310 | Cervix | CC | response to decreased oxygen levels | 62/2311 | 322/18723 | 2.29e-04 | 2.57e-03 | 62 |
| GO:00713757 | Cervix | CC | cellular response to peptide hormone stimulus | 57/2311 | 290/18723 | 2.32e-04 | 2.59e-03 | 57 |
| GO:00096369 | Cervix | CC | response to toxic substance | 52/2311 | 262/18723 | 3.34e-04 | 3.52e-03 | 52 |
| GO:00714539 | Cervix | CC | cellular response to oxygen levels | 38/2311 | 177/18723 | 4.23e-04 | 4.27e-03 | 38 |
| GO:00362949 | Cervix | CC | cellular response to decreased oxygen levels | 35/2311 | 161/18723 | 5.49e-04 | 5.29e-03 | 35 |
| GO:00714566 | Cervix | CC | cellular response to hypoxia | 33/2311 | 151/18723 | 7.06e-04 | 6.41e-03 | 33 |
| GO:00457862 | Cervix | CC | negative regulation of cell cycle | 67/2311 | 385/18723 | 2.21e-03 | 1.59e-02 | 67 |
| GO:00323923 | Cervix | CC | DNA geometric change | 21/2311 | 90/18723 | 2.71e-03 | 1.85e-02 | 21 |
| GO:00427705 | Cervix | CC | signal transduction in response to DNA damage | 34/2311 | 172/18723 | 3.52e-03 | 2.27e-02 | 34 |
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| 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 |
| BRIP1 | SNV | Missense_Mutation | c.1261N>C | p.Glu421Gln | p.E421Q | Q9BX63 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| BRIP1 | SNV | Missense_Mutation | rs876658249 | c.888N>C | p.Glu296Asp | p.E296D | Q9BX63 | protein_coding | tolerated(0.05) | probably_damaging(0.946) | TCGA-A2-A4RW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| BRIP1 | SNV | Missense_Mutation | c.2738N>T | p.Ser913Phe | p.S913F | Q9BX63 | protein_coding | tolerated(0.67) | benign(0.056) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |
| BRIP1 | SNV | Missense_Mutation | c.329A>T | p.Tyr110Phe | p.Y110F | Q9BX63 | protein_coding | tolerated(0.12) | benign(0.095) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
| BRIP1 | SNV | Missense_Mutation | rs863224801 | c.2800N>G | p.Phe934Val | p.F934V | Q9BX63 | protein_coding | deleterious_low_confidence(0.03) | benign(0.005) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| BRIP1 | SNV | Missense_Mutation | c.1261N>A | p.Glu421Lys | p.E421K | Q9BX63 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A0TQ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| BRIP1 | SNV | Missense_Mutation | c.400N>G | p.Leu134Val | p.L134V | Q9BX63 | protein_coding | deleterious(0.01) | probably_damaging(0.96) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD | |
| BRIP1 | SNV | Missense_Mutation | rs587780227 | c.1357N>A | p.Ala453Thr | p.A453T | Q9BX63 | protein_coding | tolerated(0.11) | benign(0) | TCGA-E9-A228-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| BRIP1 | insertion | Frame_Shift_Ins | novel | c.3009_3010insGAATTCCATTCAACTTTGTATCTATGCAATCCTC | p.Ser1004GlufsTer14 | p.S1004Efs*14 | Q9BX63 | protein_coding | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| BRIP1 | insertion | In_Frame_Ins | novel | c.1661_1662insTAAGTGGAATCATAAAATATTTGTCGTTTTTGTGACTGG | p.Gln554delinsHisLysTrpAsnHisLysIlePheValValPheValThrGly | p.Q554delinsHKWNHKIFVVFVTG | Q9BX63 | protein_coding | TCGA-B6-A0RG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 |
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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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