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Gene: FAF1 |
Gene summary for FAF1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAF1 | Gene ID | 11124 |
| Gene name | Fas associated factor 1 | |
| Gene Alias | CGI-03 | |
| Cytomap | 1p32.3 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q9UNN5 |
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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 |
| 11124 | FAF1 | CCI_1 | Human | Cervix | CC | 9.08e-31 | 2.03e+00 | 0.528 |
| 11124 | FAF1 | CCI_2 | Human | Cervix | CC | 2.28e-16 | 1.80e+00 | 0.5249 |
| 11124 | FAF1 | CCI_3 | Human | Cervix | CC | 1.73e-33 | 2.07e+00 | 0.516 |
| 11124 | FAF1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.35e-22 | -5.96e-01 | 0.0155 |
| 11124 | FAF1 | HTA11_347_2000001011 | Human | Colorectum | AD | 4.18e-11 | 6.24e-01 | -0.1954 |
| 11124 | FAF1 | HTA11_411_2000001011 | Human | Colorectum | SER | 2.60e-04 | 3.55e-01 | -0.2602 |
| 11124 | FAF1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 9.84e-03 | -4.90e-01 | -0.1207 |
| 11124 | FAF1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.90e-07 | -6.73e-01 | -0.2061 |
| 11124 | FAF1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 4.50e-03 | -4.75e-01 | -0.1462 |
| 11124 | FAF1 | HTA11_9341_2000001011 | Human | Colorectum | SER | 2.79e-02 | -3.36e-01 | -0.00410000000000005 |
| 11124 | FAF1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 2.01e-05 | -5.15e-01 | -0.0179 |
| 11124 | FAF1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.14e-18 | -5.55e-01 | 0.096 |
| 11124 | FAF1 | HTA11_9408_2000001011 | Human | Colorectum | AD | 7.06e-03 | -6.34e-01 | 0.0451 |
| 11124 | FAF1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.76e-08 | -4.00e-01 | 0.294 |
| 11124 | FAF1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 6.38e-05 | 6.66e-01 | 0.3487 |
| 11124 | FAF1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.52e-04 | -6.45e-01 | 0.2585 |
| 11124 | FAF1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 6.94e-13 | -5.29e-01 | 0.3005 |
| 11124 | FAF1 | F007 | Human | Colorectum | FAP | 3.06e-02 | -2.96e-01 | 0.1176 |
| 11124 | FAF1 | A001-C-207 | Human | Colorectum | FAP | 4.00e-06 | -3.96e-01 | 0.1278 |
| 11124 | FAF1 | A015-C-203 | Human | Colorectum | FAP | 2.95e-37 | -6.66e-01 | -0.1294 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| 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 | ||
| 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 | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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:20012387 | Endometrium | AEH | positive regulation of extrinsic apoptotic signaling pathway | 15/2100 | 48/18723 | 1.58e-04 | 2.08e-03 | 15 |
| GO:19020434 | Endometrium | AEH | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 7/2100 | 13/18723 | 2.05e-04 | 2.54e-03 | 7 |
| GO:000862510 | Endometrium | AEH | extrinsic apoptotic signaling pathway via death domain receptors | 19/2100 | 82/18723 | 1.54e-03 | 1.26e-02 | 19 |
| GO:19020419 | Endometrium | AEH | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 13/2100 | 49/18723 | 2.31e-03 | 1.74e-02 | 13 |
| GO:00510905 | Endometrium | AEH | regulation of DNA-binding transcription factor activity | 69/2100 | 440/18723 | 2.51e-03 | 1.87e-02 | 69 |
| GO:00062752 | Endometrium | AEH | regulation of DNA replication | 21/2100 | 107/18723 | 7.38e-03 | 4.20e-02 | 21 |
| GO:004217617 | Endometrium | EEC | regulation of protein catabolic process | 103/2168 | 391/18723 | 3.54e-16 | 1.52e-13 | 103 |
| GO:200123317 | Endometrium | EEC | regulation of apoptotic signaling pathway | 91/2168 | 356/18723 | 1.31e-13 | 3.28e-11 | 91 |
| GO:190336217 | Endometrium | EEC | regulation of cellular protein catabolic process | 72/2168 | 255/18723 | 2.66e-13 | 6.13e-11 | 72 |
| GO:001049817 | Endometrium | EEC | proteasomal protein catabolic process | 112/2168 | 490/18723 | 6.99e-13 | 1.40e-10 | 112 |
| GO:000989617 | Endometrium | EEC | positive regulation of catabolic process | 108/2168 | 492/18723 | 2.55e-11 | 3.64e-09 | 108 |
| GO:004316117 | Endometrium | EEC | proteasome-mediated ubiquitin-dependent protein catabolic process | 92/2168 | 412/18723 | 3.01e-10 | 3.23e-08 | 92 |
| GO:003133117 | Endometrium | EEC | positive regulation of cellular catabolic process | 94/2168 | 427/18723 | 4.30e-10 | 4.45e-08 | 94 |
| GO:004573217 | Endometrium | EEC | positive regulation of protein catabolic process | 59/2168 | 231/18723 | 2.69e-09 | 2.01e-07 | 59 |
| GO:200123516 | Endometrium | EEC | positive regulation of apoptotic signaling pathway | 37/2168 | 126/18723 | 5.23e-08 | 2.83e-06 | 37 |
| GO:190336417 | Endometrium | EEC | positive regulation of cellular protein catabolic process | 42/2168 | 155/18723 | 8.59e-08 | 4.33e-06 | 42 |
| GO:009719117 | Endometrium | EEC | extrinsic apoptotic signaling pathway | 52/2168 | 219/18723 | 2.91e-07 | 1.20e-05 | 52 |
| GO:200123617 | Endometrium | EEC | regulation of extrinsic apoptotic signaling pathway | 40/2168 | 151/18723 | 3.33e-07 | 1.33e-05 | 40 |
| GO:004325417 | Endometrium | EEC | regulation of protein-containing complex assembly | 83/2168 | 428/18723 | 1.44e-06 | 4.64e-05 | 83 |
| GO:004518517 | Endometrium | EEC | maintenance of protein location | 28/2168 | 94/18723 | 1.55e-06 | 4.86e-05 | 28 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 |
| 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 |
| 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 |
| FAF1 | SNV | Missense_Mutation | c.1948G>C | p.Glu650Gln | p.E650Q | Q9UNN5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.954) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| FAF1 | SNV | Missense_Mutation | novel | c.164A>C | p.Glu55Ala | p.E55A | Q9UNN5 | protein_coding | tolerated(0.11) | benign(0.007) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| FAF1 | SNV | Missense_Mutation | c.1639N>C | p.Glu547Gln | p.E547Q | Q9UNN5 | protein_coding | tolerated(0.14) | probably_damaging(0.996) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| FAF1 | SNV | Missense_Mutation | c.604N>A | p.Glu202Lys | p.E202K | Q9UNN5 | protein_coding | tolerated(0.77) | benign(0.164) | TCGA-EX-A1H6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| FAF1 | SNV | Missense_Mutation | novel | c.1479A>T | p.Glu493Asp | p.E493D | Q9UNN5 | protein_coding | tolerated(0.57) | benign(0.072) | TCGA-MA-AA3Y-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| FAF1 | insertion | Frame_Shift_Ins | novel | c.1597_1598insGA | p.Met533ArgfsTer26 | p.M533Rfs*26 | Q9UNN5 | protein_coding | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | ||
| FAF1 | SNV | Missense_Mutation | novel | c.1647A>C | p.Glu549Asp | p.E549D | Q9UNN5 | protein_coding | tolerated(0.11) | possibly_damaging(0.679) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| FAF1 | SNV | Missense_Mutation | c.1498N>A | p.Glu500Lys | p.E500K | Q9UNN5 | protein_coding | deleterious(0) | possibly_damaging(0.679) | TCGA-AD-6963-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| FAF1 | SNV | Missense_Mutation | c.1805T>G | p.Phe602Cys | p.F602C | Q9UNN5 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| FAF1 | SNV | Missense_Mutation | novel | c.571N>C | p.Asn191His | p.N191H | Q9UNN5 | protein_coding | tolerated(0.2) | possibly_damaging(0.453) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
| Page: 1 2 3 4 5 6 7 8 |
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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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