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Gene: EAF1 |
Gene summary for EAF1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EAF1 | Gene ID | 85403 |
| Gene name | ELL associated factor 1 | |
| Gene Alias | EAF1 | |
| Cytomap | 3p25.1 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q96JC9 |
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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 |
| 85403 | EAF1 | HCC1_Meng | Human | Liver | HCC | 5.66e-55 | 1.19e-01 | 0.0246 |
| 85403 | EAF1 | HCC2_Meng | Human | Liver | HCC | 5.00e-08 | -1.71e-02 | 0.0107 |
| 85403 | EAF1 | HCC1 | Human | Liver | HCC | 3.40e-04 | 2.33e+00 | 0.5336 |
| 85403 | EAF1 | HCC2 | Human | Liver | HCC | 3.58e-15 | 2.52e+00 | 0.5341 |
| 85403 | EAF1 | HCC5 | Human | Liver | HCC | 1.95e-03 | 1.58e+00 | 0.4932 |
| 85403 | EAF1 | Pt13.b | Human | Liver | HCC | 5.80e-03 | 1.73e-02 | 0.0251 |
| 85403 | EAF1 | S014 | Human | Liver | HCC | 3.62e-02 | 2.43e-01 | 0.2254 |
| 85403 | EAF1 | S016 | Human | Liver | HCC | 1.18e-04 | 2.52e-01 | 0.2243 |
| 85403 | EAF1 | S027 | Human | Liver | HCC | 1.85e-07 | 6.31e-01 | 0.2446 |
| 85403 | EAF1 | S028 | Human | Liver | HCC | 7.67e-19 | 8.00e-01 | 0.2503 |
| 85403 | EAF1 | S029 | Human | Liver | HCC | 1.59e-17 | 7.97e-01 | 0.2581 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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:004873222 | Liver | HCC | gland development | 242/7958 | 436/18723 | 2.26e-08 | 5.28e-07 | 242 |
| GO:000635411 | Liver | HCC | DNA-templated transcription, elongation | 64/7958 | 91/18723 | 7.00e-08 | 1.44e-06 | 64 |
| GO:000636811 | Liver | HCC | transcription elongation from RNA polymerase II promoter | 50/7958 | 69/18723 | 4.32e-07 | 7.22e-06 | 50 |
| GO:0032784 | Liver | HCC | regulation of DNA-templated transcription, elongation | 39/7958 | 53/18723 | 4.34e-06 | 5.53e-05 | 39 |
| GO:0034243 | Liver | HCC | regulation of transcription elongation from RNA polymerase II promoter | 25/7958 | 32/18723 | 4.38e-05 | 4.26e-04 | 25 |
| GO:00018415 | Liver | HCC | neural tube formation | 62/7958 | 102/18723 | 1.47e-04 | 1.18e-03 | 62 |
| GO:00018433 | Liver | HCC | neural tube closure | 53/7958 | 88/18723 | 5.95e-04 | 3.75e-03 | 53 |
| GO:00140204 | Liver | HCC | primary neural tube formation | 56/7958 | 94/18723 | 6.19e-04 | 3.86e-03 | 56 |
| GO:00606063 | Liver | HCC | tube closure | 53/7958 | 89/18723 | 8.67e-04 | 5.14e-03 | 53 |
| GO:00308795 | Liver | HCC | mammary gland development | 75/7958 | 137/18723 | 2.52e-03 | 1.22e-02 | 75 |
| GO:00219154 | Liver | HCC | neural tube development | 82/7958 | 152/18723 | 2.83e-03 | 1.33e-02 | 82 |
| GO:00018384 | Liver | HCC | embryonic epithelial tube formation | 66/7958 | 121/18723 | 4.94e-03 | 2.07e-02 | 66 |
| GO:00721754 | Liver | HCC | epithelial tube formation | 70/7958 | 132/18723 | 9.29e-03 | 3.57e-02 | 70 |
| GO:00351484 | Liver | HCC | tube formation | 77/7958 | 148/18723 | 1.20e-02 | 4.39e-02 | 77 |
| GO:004873220 | Oral cavity | OSCC | gland development | 226/7305 | 436/18723 | 2.78e-08 | 5.39e-07 | 226 |
| GO:005067310 | Oral cavity | OSCC | epithelial cell proliferation | 212/7305 | 437/18723 | 2.82e-05 | 2.61e-04 | 212 |
| GO:000184110 | Oral cavity | OSCC | neural tube formation | 60/7305 | 102/18723 | 3.90e-05 | 3.43e-04 | 60 |
| GO:00140208 | Oral cavity | OSCC | primary neural tube formation | 55/7305 | 94/18723 | 9.87e-05 | 7.43e-04 | 55 |
| GO:00018437 | Oral cavity | OSCC | neural tube closure | 52/7305 | 88/18723 | 1.06e-04 | 7.84e-04 | 52 |
| GO:00606066 | Oral cavity | OSCC | tube closure | 52/7305 | 89/18723 | 1.59e-04 | 1.10e-03 | 52 |
| Page: 1 2 3 4 |
| 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 |
| EAF1 | SNV | Missense_Mutation | novel | c.718N>C | p.Thr240Pro | p.T240P | Q96JC9 | protein_coding | tolerated(0.2) | benign(0.159) | TCGA-AR-A1AO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| EAF1 | SNV | Missense_Mutation | novel | c.173N>C | p.Val58Ala | p.V58A | Q96JC9 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
| EAF1 | SNV | Missense_Mutation | novel | c.595N>A | p.Glu199Lys | p.E199K | Q96JC9 | protein_coding | deleterious(0.03) | benign(0) | TCGA-EA-A43B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| EAF1 | SNV | Missense_Mutation | rs145558221 | c.238N>T | p.Arg80Trp | p.R80W | Q96JC9 | protein_coding | deleterious(0.01) | probably_damaging(0.91) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| EAF1 | SNV | Missense_Mutation | c.344N>A | p.Gly115Asp | p.G115D | Q96JC9 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-DM-A1HB-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
| EAF1 | SNV | Missense_Mutation | novel | c.544G>T | p.Asp182Tyr | p.D182Y | Q96JC9 | protein_coding | deleterious(0.02) | possibly_damaging(0.446) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
| EAF1 | SNV | Missense_Mutation | novel | c.379N>T | p.Pro127Ser | p.P127S | Q96JC9 | protein_coding | tolerated(0.84) | benign(0) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
| EAF1 | SNV | Missense_Mutation | novel | c.145N>A | p.Glu49Lys | p.E49K | Q96JC9 | protein_coding | tolerated(0.1) | benign(0.01) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
| EAF1 | insertion | Frame_Shift_Ins | novel | c.227_228insG | p.Asn78GlufsTer14 | p.N78Efs*14 | Q96JC9 | protein_coding | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD | ||
| EAF1 | SNV | Missense_Mutation | c.290N>G | p.Tyr97Cys | p.Y97C | Q96JC9 | protein_coding | tolerated(0.19) | benign(0.018) | TCGA-69-7760-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | SD |
| Page: 1 2 |
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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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