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Gene: EPM2AIP1 |
Gene summary for EPM2AIP1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EPM2AIP1 | Gene ID | 9852 |
| Gene name | EPM2A interacting protein 1 | |
| Gene Alias | EPM2AIP1 | |
| Cytomap | 3p22.2 | |
| Gene Type | protein-coding | GO ID | GO:0000271 | UniProtAcc | Q7L775 |
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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 |
| 9852 | EPM2AIP1 | LZE4T | Human | Esophagus | ESCC | 1.24e-05 | 1.63e-01 | 0.0811 |
| 9852 | EPM2AIP1 | LZE24T | Human | Esophagus | ESCC | 2.67e-06 | 1.03e-01 | 0.0596 |
| 9852 | EPM2AIP1 | P2T-E | Human | Esophagus | ESCC | 2.12e-17 | 2.30e-01 | 0.1177 |
| 9852 | EPM2AIP1 | P4T-E | Human | Esophagus | ESCC | 2.82e-15 | 3.21e-01 | 0.1323 |
| 9852 | EPM2AIP1 | P5T-E | Human | Esophagus | ESCC | 3.39e-07 | 6.10e-02 | 0.1327 |
| 9852 | EPM2AIP1 | P8T-E | Human | Esophagus | ESCC | 2.05e-18 | 2.09e-01 | 0.0889 |
| 9852 | EPM2AIP1 | P9T-E | Human | Esophagus | ESCC | 2.73e-05 | 6.73e-02 | 0.1131 |
| 9852 | EPM2AIP1 | P10T-E | Human | Esophagus | ESCC | 6.74e-24 | 4.33e-01 | 0.116 |
| 9852 | EPM2AIP1 | P12T-E | Human | Esophagus | ESCC | 4.05e-32 | 6.46e-01 | 0.1122 |
| 9852 | EPM2AIP1 | P15T-E | Human | Esophagus | ESCC | 8.18e-11 | 1.42e-01 | 0.1149 |
| 9852 | EPM2AIP1 | P16T-E | Human | Esophagus | ESCC | 1.38e-18 | 3.59e-01 | 0.1153 |
| 9852 | EPM2AIP1 | P20T-E | Human | Esophagus | ESCC | 1.58e-04 | 5.16e-02 | 0.1124 |
| 9852 | EPM2AIP1 | P21T-E | Human | Esophagus | ESCC | 3.57e-22 | 1.37e-01 | 0.1617 |
| 9852 | EPM2AIP1 | P22T-E | Human | Esophagus | ESCC | 7.02e-27 | 3.46e-01 | 0.1236 |
| 9852 | EPM2AIP1 | P23T-E | Human | Esophagus | ESCC | 1.35e-05 | 1.40e-01 | 0.108 |
| 9852 | EPM2AIP1 | P24T-E | Human | Esophagus | ESCC | 3.88e-07 | 6.43e-02 | 0.1287 |
| 9852 | EPM2AIP1 | P26T-E | Human | Esophagus | ESCC | 1.86e-26 | 3.91e-01 | 0.1276 |
| 9852 | EPM2AIP1 | P27T-E | Human | Esophagus | ESCC | 2.72e-12 | 1.52e-01 | 0.1055 |
| 9852 | EPM2AIP1 | P28T-E | Human | Esophagus | ESCC | 3.38e-24 | 2.89e-01 | 0.1149 |
| 9852 | EPM2AIP1 | P30T-E | Human | Esophagus | ESCC | 1.86e-07 | 3.38e-01 | 0.137 |
| Page: 1 2 3 4 |
| 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 | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| 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:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
| GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
| GO:00059969 | Esophagus | ESCC | monosaccharide metabolic process | 159/8552 | 257/18723 | 1.11e-07 | 1.81e-06 | 159 |
| GO:00193189 | Esophagus | ESCC | hexose metabolic process | 147/8552 | 237/18723 | 2.63e-07 | 3.94e-06 | 147 |
| GO:0043434111 | Esophagus | ESCC | response to peptide hormone | 234/8552 | 414/18723 | 4.93e-06 | 5.21e-05 | 234 |
| GO:003286818 | Esophagus | ESCC | response to insulin | 156/8552 | 264/18723 | 7.21e-06 | 7.20e-05 | 156 |
| GO:00060069 | Esophagus | ESCC | glucose metabolic process | 119/8552 | 196/18723 | 1.51e-05 | 1.36e-04 | 119 |
| GO:004346719 | Esophagus | ESCC | regulation of generation of precursor metabolites and energy | 81/8552 | 130/18723 | 9.58e-05 | 6.81e-04 | 81 |
| GO:00442626 | Esophagus | ESCC | cellular carbohydrate metabolic process | 160/8552 | 283/18723 | 1.43e-04 | 9.66e-04 | 160 |
| GO:00160514 | Esophagus | ESCC | carbohydrate biosynthetic process | 117/8552 | 202/18723 | 2.96e-04 | 1.79e-03 | 117 |
| GO:00620129 | Esophagus | ESCC | regulation of small molecule metabolic process | 184/8552 | 334/18723 | 3.11e-04 | 1.85e-03 | 184 |
| GO:00109065 | Esophagus | ESCC | regulation of glucose metabolic process | 71/8552 | 119/18723 | 1.46e-03 | 6.92e-03 | 71 |
| GO:00061096 | Esophagus | ESCC | regulation of carbohydrate metabolic process | 101/8552 | 178/18723 | 1.89e-03 | 8.52e-03 | 101 |
| GO:00106755 | Esophagus | ESCC | regulation of cellular carbohydrate metabolic process | 83/8552 | 146/18723 | 4.24e-03 | 1.69e-02 | 83 |
| GO:00346372 | Esophagus | ESCC | cellular carbohydrate biosynthetic process | 46/8552 | 78/18723 | 1.24e-02 | 4.13e-02 | 46 |
| GO:000609122 | Liver | HCC | generation of precursor metabolites and energy | 340/7958 | 490/18723 | 4.04e-34 | 2.85e-31 | 340 |
| GO:001598022 | Liver | HCC | energy derivation by oxidation of organic compounds | 221/7958 | 318/18723 | 1.02e-22 | 1.86e-20 | 221 |
| GO:003286821 | Liver | HCC | response to insulin | 172/7958 | 264/18723 | 7.14e-14 | 4.23e-12 | 172 |
| GO:000599621 | Liver | HCC | monosaccharide metabolic process | 167/7958 | 257/18723 | 2.31e-13 | 1.25e-11 | 167 |
| GO:001931821 | Liver | HCC | hexose metabolic process | 155/7958 | 237/18723 | 7.63e-13 | 3.90e-11 | 155 |
| 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 |
| EPM2AIP1 | SNV | Missense_Mutation | novel | c.696N>C | p.Gln232His | p.Q232H | Q7L775 | protein_coding | tolerated(0.07) | possibly_damaging(0.471) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| EPM2AIP1 | SNV | Missense_Mutation | novel | c.646C>T | p.His216Tyr | p.H216Y | Q7L775 | protein_coding | tolerated(0.1) | benign(0.06) | TCGA-AQ-A7U7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | rituximab | CR |
| EPM2AIP1 | insertion | Frame_Shift_Ins | novel | c.508_509insATGACATTCCAACAGTT | p.Arg170AsnfsTer35 | p.R170Nfs*35 | Q7L775 | protein_coding | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| EPM2AIP1 | SNV | Missense_Mutation | novel | c.957G>T | p.Gln319His | p.Q319H | Q7L775 | protein_coding | deleterious(0.02) | possibly_damaging(0.864) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| EPM2AIP1 | SNV | Missense_Mutation | novel | c.1414N>C | p.Glu472Gln | p.E472Q | Q7L775 | protein_coding | tolerated(0.2) | benign(0.188) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
| EPM2AIP1 | SNV | Missense_Mutation | c.1282N>A | p.Glu428Lys | p.E428K | Q7L775 | protein_coding | tolerated(0.3) | benign(0.37) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| EPM2AIP1 | SNV | Missense_Mutation | rs762116131 | c.1007N>A | p.Arg336Gln | p.R336Q | Q7L775 | protein_coding | tolerated(0.26) | possibly_damaging(0.818) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| EPM2AIP1 | SNV | Missense_Mutation | novel | c.907N>A | p.Glu303Lys | p.E303K | Q7L775 | protein_coding | tolerated(0.84) | benign(0.107) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| EPM2AIP1 | insertion | Nonsense_Mutation | novel | c.638_639insGTGAAGAAAT | p.Asn213LysfsTer2 | p.N213Kfs*2 | Q7L775 | protein_coding | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD | ||
| EPM2AIP1 | SNV | Missense_Mutation | c.131G>A | p.Arg44His | p.R44H | Q7L775 | protein_coding | tolerated(0.29) | benign(0.001) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 |
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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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