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Gene: RECQL5 |
Gene summary for RECQL5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RECQL5 | Gene ID | 9400 |
| Gene name | RecQ like helicase 5 | |
| Gene Alias | RECQ5 | |
| Cytomap | 17q25.1 | |
| Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | B3KQK2 |
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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 |
| 9400 | RECQL5 | LZE7T | Human | Esophagus | ESCC | 2.87e-02 | 2.28e-01 | 0.0667 |
| 9400 | RECQL5 | LZE24T | Human | Esophagus | ESCC | 5.59e-14 | 2.05e-01 | 0.0596 |
| 9400 | RECQL5 | P1T-E | Human | Esophagus | ESCC | 2.84e-02 | 2.57e-01 | 0.0875 |
| 9400 | RECQL5 | P2T-E | Human | Esophagus | ESCC | 4.39e-14 | 1.36e-01 | 0.1177 |
| 9400 | RECQL5 | P8T-E | Human | Esophagus | ESCC | 2.37e-10 | 2.26e-01 | 0.0889 |
| 9400 | RECQL5 | P10T-E | Human | Esophagus | ESCC | 1.64e-06 | 1.11e-01 | 0.116 |
| 9400 | RECQL5 | P11T-E | Human | Esophagus | ESCC | 4.37e-06 | 2.59e-01 | 0.1426 |
| 9400 | RECQL5 | P12T-E | Human | Esophagus | ESCC | 2.85e-08 | 1.46e-01 | 0.1122 |
| 9400 | RECQL5 | P16T-E | Human | Esophagus | ESCC | 3.92e-17 | 2.12e-01 | 0.1153 |
| 9400 | RECQL5 | P17T-E | Human | Esophagus | ESCC | 4.01e-02 | 1.86e-01 | 0.1278 |
| 9400 | RECQL5 | P20T-E | Human | Esophagus | ESCC | 3.01e-24 | 5.12e-01 | 0.1124 |
| 9400 | RECQL5 | P21T-E | Human | Esophagus | ESCC | 9.65e-06 | 1.13e-01 | 0.1617 |
| 9400 | RECQL5 | P22T-E | Human | Esophagus | ESCC | 6.10e-12 | 1.45e-01 | 0.1236 |
| 9400 | RECQL5 | P23T-E | Human | Esophagus | ESCC | 5.74e-06 | 1.43e-01 | 0.108 |
| 9400 | RECQL5 | P24T-E | Human | Esophagus | ESCC | 1.09e-03 | 6.11e-02 | 0.1287 |
| 9400 | RECQL5 | P26T-E | Human | Esophagus | ESCC | 6.35e-13 | 1.33e-01 | 0.1276 |
| 9400 | RECQL5 | P27T-E | Human | Esophagus | ESCC | 3.38e-09 | 1.01e-01 | 0.1055 |
| 9400 | RECQL5 | P28T-E | Human | Esophagus | ESCC | 4.22e-17 | 1.42e-01 | 0.1149 |
| 9400 | RECQL5 | P30T-E | Human | Esophagus | ESCC | 8.63e-03 | 1.41e-01 | 0.137 |
| 9400 | RECQL5 | P31T-E | Human | Esophagus | ESCC | 4.11e-12 | 1.61e-01 | 0.1251 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias |
| ∗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:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
| GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
| GO:000635414 | Esophagus | ESCC | DNA-templated transcription, elongation | 76/8552 | 91/18723 | 8.35e-14 | 4.11e-12 | 76 |
| GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
| GO:2001020110 | Esophagus | ESCC | regulation of response to DNA damage stimulus | 145/8552 | 219/18723 | 5.97e-10 | 1.50e-08 | 145 |
| GO:000636814 | Esophagus | ESCC | transcription elongation from RNA polymerase II promoter | 56/8552 | 69/18723 | 1.40e-09 | 3.30e-08 | 56 |
| GO:003278412 | Esophagus | ESCC | regulation of DNA-templated transcription, elongation | 45/8552 | 53/18723 | 3.64e-09 | 7.61e-08 | 45 |
| GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
| GO:003424312 | Esophagus | ESCC | regulation of transcription elongation from RNA polymerase II promoter | 28/8552 | 32/18723 | 1.02e-06 | 1.29e-05 | 28 |
| GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
| GO:003239214 | Esophagus | ESCC | DNA geometric change | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
| GO:003250813 | Esophagus | ESCC | DNA duplex unwinding | 58/8552 | 84/18723 | 1.23e-05 | 1.14e-04 | 58 |
| GO:00513042 | Esophagus | ESCC | chromosome separation | 64/8552 | 96/18723 | 2.61e-05 | 2.20e-04 | 64 |
| GO:000941020 | Esophagus | ESCC | response to xenobiotic stimulus | 253/8552 | 462/18723 | 4.55e-05 | 3.58e-04 | 253 |
| GO:00062826 | Esophagus | ESCC | regulation of DNA repair | 82/8552 | 130/18723 | 4.65e-05 | 3.66e-04 | 82 |
| GO:200102112 | Esophagus | ESCC | negative regulation of response to DNA damage stimulus | 54/8552 | 81/18723 | 1.09e-04 | 7.64e-04 | 54 |
| GO:00063101 | Esophagus | ESCC | DNA recombination | 168/8552 | 305/18723 | 5.58e-04 | 3.05e-03 | 168 |
| GO:003424411 | Esophagus | ESCC | negative regulation of transcription elongation from RNA polymerase II promoter | 14/8552 | 16/18723 | 6.78e-04 | 3.56e-03 | 14 |
| GO:003278511 | Esophagus | ESCC | negative regulation of DNA-templated transcription, elongation | 15/8552 | 18/18723 | 1.20e-03 | 5.88e-03 | 15 |
| GO:0097305111 | Esophagus | ESCC | response to alcohol | 138/8552 | 253/18723 | 2.70e-03 | 1.14e-02 | 138 |
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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 |
| RECQL5 | SNV | Missense_Mutation | rs201204572 | c.994N>A | p.Ala332Thr | p.A332T | O94762 | protein_coding | deleterious(0) | possibly_damaging(0.448) | TCGA-A8-A07I-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
| RECQL5 | SNV | Missense_Mutation | c.2851N>G | p.Gln951Glu | p.Q951E | O94762 | protein_coding | tolerated(1) | benign(0.003) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| RECQL5 | SNV | Missense_Mutation | c.1927C>T | p.Pro643Ser | p.P643S | O94762 | protein_coding | tolerated(0.25) | benign(0.145) | TCGA-AR-A24Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| RECQL5 | SNV | Missense_Mutation | c.2501N>T | p.Pro834Leu | p.P834L | O94762 | protein_coding | tolerated(0.35) | benign(0) | TCGA-D8-A1JB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| RECQL5 | SNV | Missense_Mutation | c.806N>C | p.Arg269Thr | p.R269T | O94762 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-E9-A1RH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | SD | |
| RECQL5 | SNV | Missense_Mutation | c.1215C>A | p.Phe405Leu | p.F405L | O94762 | protein_coding | deleterious(0.02) | possibly_damaging(0.686) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| RECQL5 | insertion | In_Frame_Ins | novel | c.1157_1158insCTGGGG | p.Arg386delinsSerTrpGly | p.R386delinsSWG | O94762 | protein_coding | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| RECQL5 | insertion | In_Frame_Ins | novel | c.1155_1156insGGCCTCTGCCTTCATTTCTCCTGTCACCTTCCGGGG | p.Lys385_Arg386insGlyLeuCysLeuHisPheSerCysHisLeuProGly | p.K385_R386insGLCLHFSCHLPG | O94762 | protein_coding | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| RECQL5 | insertion | Frame_Shift_Ins | novel | c.1642_1643insGGAGCACTCCAAGCTCTCGTTCCCTTGG | p.Lys548ArgfsTer34 | p.K548Rfs*34 | O94762 | protein_coding | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | ||
| RECQL5 | SNV | Missense_Mutation | novel | c.2707N>G | p.Phe903Val | p.F903V | O94762 | protein_coding | tolerated(1) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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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