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Gene: FRMD5 |
Gene summary for FRMD5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FRMD5 | Gene ID | 84978 |
| Gene name | FERM domain containing 5 | |
| Gene Alias | FRMD5 | |
| Cytomap | 15q15.3 | |
| Gene Type | protein-coding | GO ID | GO:0006928 | UniProtAcc | B3KVN9 |
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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 |
| 84978 | FRMD5 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.36e-02 | -4.63e-01 | -0.1088 |
| 84978 | FRMD5 | A015-C-203 | Human | Colorectum | FAP | 8.27e-15 | -4.03e-01 | -0.1294 |
| 84978 | FRMD5 | A015-C-204 | Human | Colorectum | FAP | 1.36e-04 | -4.37e-01 | -0.0228 |
| 84978 | FRMD5 | A002-C-201 | Human | Colorectum | FAP | 6.06e-05 | -2.10e-01 | 0.0324 |
| 84978 | FRMD5 | A001-C-108 | Human | Colorectum | FAP | 2.45e-04 | -3.35e-01 | -0.0272 |
| 84978 | FRMD5 | A002-C-205 | Human | Colorectum | FAP | 1.27e-09 | -2.46e-01 | -0.1236 |
| 84978 | FRMD5 | A015-C-006 | Human | Colorectum | FAP | 7.58e-09 | -5.08e-01 | -0.0994 |
| 84978 | FRMD5 | A015-C-106 | Human | Colorectum | FAP | 2.36e-04 | -3.36e-01 | -0.0511 |
| 84978 | FRMD5 | A002-C-114 | Human | Colorectum | FAP | 9.62e-10 | -4.31e-01 | -0.1561 |
| 84978 | FRMD5 | A015-C-104 | Human | Colorectum | FAP | 7.34e-14 | -4.20e-01 | -0.1899 |
| 84978 | FRMD5 | A001-C-014 | Human | Colorectum | FAP | 7.07e-05 | -3.48e-01 | 0.0135 |
| 84978 | FRMD5 | A002-C-016 | Human | Colorectum | FAP | 1.35e-11 | -2.62e-01 | 0.0521 |
| 84978 | FRMD5 | A015-C-002 | Human | Colorectum | FAP | 9.81e-06 | -3.91e-01 | -0.0763 |
| 84978 | FRMD5 | A001-C-203 | Human | Colorectum | FAP | 2.07e-04 | -2.61e-01 | -0.0481 |
| 84978 | FRMD5 | A002-C-116 | Human | Colorectum | FAP | 3.18e-16 | -3.96e-01 | -0.0452 |
| 84978 | FRMD5 | A014-C-008 | Human | Colorectum | FAP | 4.41e-10 | -5.47e-01 | -0.191 |
| 84978 | FRMD5 | A018-E-020 | Human | Colorectum | FAP | 9.02e-13 | -4.85e-01 | -0.2034 |
| 84978 | FRMD5 | F034 | Human | Colorectum | FAP | 3.14e-10 | -3.39e-01 | -0.0665 |
| 84978 | FRMD5 | CRC-1-8810 | Human | Colorectum | CRC | 8.49e-13 | -5.06e-01 | 0.6257 |
| 84978 | FRMD5 | CRC-3-11773 | Human | Colorectum | CRC | 1.22e-02 | -2.56e-01 | 0.2564 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:0031032 | Colorectum | AD | actomyosin structure organization | 65/3918 | 196/18723 | 4.17e-05 | 7.37e-04 | 65 |
| GO:0045785 | Colorectum | AD | positive regulation of cell adhesion | 122/3918 | 437/18723 | 2.65e-04 | 3.28e-03 | 122 |
| GO:00310323 | Colorectum | FAP | actomyosin structure organization | 51/2622 | 196/18723 | 5.89e-06 | 1.88e-04 | 51 |
| GO:00457854 | Colorectum | FAP | positive regulation of cell adhesion | 92/2622 | 437/18723 | 3.09e-05 | 7.04e-04 | 92 |
| GO:00310324 | Colorectum | CRC | actomyosin structure organization | 45/2078 | 196/18723 | 1.49e-06 | 8.14e-05 | 45 |
| GO:00457855 | Colorectum | CRC | positive regulation of cell adhesion | 81/2078 | 437/18723 | 2.28e-06 | 1.10e-04 | 81 |
| GO:004578517 | Endometrium | EEC | positive regulation of cell adhesion | 98/2168 | 437/18723 | 6.15e-11 | 8.38e-09 | 98 |
| GO:003103214 | Endometrium | EEC | actomyosin structure organization | 46/2168 | 196/18723 | 1.94e-06 | 5.80e-05 | 46 |
| GO:200014613 | Endometrium | EEC | negative regulation of cell motility | 71/2168 | 359/18723 | 3.98e-06 | 1.04e-04 | 71 |
| GO:005127113 | Endometrium | EEC | negative regulation of cellular component movement | 72/2168 | 367/18723 | 4.59e-06 | 1.15e-04 | 72 |
| GO:004001312 | Endometrium | EEC | negative regulation of locomotion | 74/2168 | 391/18723 | 1.28e-05 | 2.59e-04 | 74 |
| GO:00457858 | Lung | IAC | positive regulation of cell adhesion | 87/2061 | 437/18723 | 2.59e-08 | 3.13e-06 | 87 |
| GO:00310327 | Lung | IAC | actomyosin structure organization | 46/2061 | 196/18723 | 4.70e-07 | 3.10e-05 | 46 |
| GO:2000146 | Lung | IAC | negative regulation of cell motility | 56/2061 | 359/18723 | 4.58e-03 | 3.62e-02 | 56 |
| GO:0051271 | Lung | IAC | negative regulation of cellular component movement | 57/2061 | 367/18723 | 4.67e-03 | 3.67e-02 | 57 |
| GO:0040013 | Lung | IAC | negative regulation of locomotion | 60/2061 | 391/18723 | 4.94e-03 | 3.78e-02 | 60 |
| GO:004578513 | Lung | AIS | positive regulation of cell adhesion | 77/1849 | 437/18723 | 3.40e-07 | 2.83e-05 | 77 |
| GO:003103213 | Lung | AIS | actomyosin structure organization | 43/1849 | 196/18723 | 4.08e-07 | 3.25e-05 | 43 |
| GO:00400131 | Lung | AIS | negative regulation of locomotion | 57/1849 | 391/18723 | 1.80e-03 | 2.03e-02 | 57 |
| GO:00512711 | Lung | AIS | negative regulation of cellular component movement | 53/1849 | 367/18723 | 3.11e-03 | 3.00e-02 | 53 |
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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 |
| FRMD5 | SNV | Missense_Mutation | novel | c.590N>C | p.Arg197Thr | p.R197T | Q7Z6J6 | protein_coding | deleterious(0.04) | benign(0.346) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| FRMD5 | SNV | Missense_Mutation | c.1639N>G | p.Gln547Glu | p.Q547E | Q7Z6J6 | protein_coding | tolerated(1) | benign(0) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| FRMD5 | SNV | Missense_Mutation | c.1166N>A | p.Ser389Tyr | p.S389Y | Q7Z6J6 | protein_coding | deleterious(0.01) | benign(0.115) | TCGA-A8-A08G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
| FRMD5 | SNV | Missense_Mutation | c.268N>G | p.Met90Val | p.M90V | Q7Z6J6 | protein_coding | deleterious(0.02) | probably_damaging(0.987) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| FRMD5 | insertion | In_Frame_Ins | novel | c.1052_1053insGCCGGCAGCAAGCACAGTGCAGAGTTCTGATCAGGAAGCCAAGGT | p.Ser351delinsArgProAlaAlaSerThrValGlnSerSerAspGlnGluAlaLysVal | p.S351delinsRPAASTVQSSDQEAKV | Q7Z6J6 | protein_coding | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | ||
| FRMD5 | SNV | Missense_Mutation | c.205N>T | p.Arg69Trp | p.R69W | Q7Z6J6 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| FRMD5 | SNV | Missense_Mutation | rs765767175 | c.1471N>A | p.Glu491Lys | p.E491K | Q7Z6J6 | protein_coding | tolerated(0.92) | benign(0.015) | TCGA-DS-A0VN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| FRMD5 | SNV | Missense_Mutation | rs148081959 | c.1178N>A | p.Arg393His | p.R393H | Q7Z6J6 | protein_coding | tolerated(0.12) | benign(0.003) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| FRMD5 | SNV | Missense_Mutation | c.1490T>G | p.Phe497Cys | p.F497C | Q7Z6J6 | protein_coding | tolerated(0.16) | probably_damaging(0.97) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
| FRMD5 | SNV | Missense_Mutation | rs150697882 | c.1150N>T | p.Arg384Trp | p.R384W | Q7Z6J6 | protein_coding | deleterious(0) | benign(0.328) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=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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