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Gene: ESPN |
Gene summary for ESPN |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ESPN | Gene ID | 83715 |
| Gene name | espin | |
| Gene Alias | DFNB36 | |
| Cytomap | 1p36.31 | |
| Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | B1AK53 |
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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 |
| 83715 | ESPN | LZE20T | Human | Esophagus | ESCC | 2.00e-09 | 3.25e-01 | 0.0662 |
| 83715 | ESPN | LZE22T | Human | Esophagus | ESCC | 5.45e-08 | 5.91e-01 | 0.068 |
| 83715 | ESPN | LZE24T | Human | Esophagus | ESCC | 2.42e-11 | 2.36e-01 | 0.0596 |
| 83715 | ESPN | P1T-E | Human | Esophagus | ESCC | 4.47e-05 | 2.97e-01 | 0.0875 |
| 83715 | ESPN | P2T-E | Human | Esophagus | ESCC | 4.01e-13 | 2.24e-01 | 0.1177 |
| 83715 | ESPN | P4T-E | Human | Esophagus | ESCC | 4.25e-25 | 5.83e-01 | 0.1323 |
| 83715 | ESPN | P5T-E | Human | Esophagus | ESCC | 5.59e-03 | 1.36e-01 | 0.1327 |
| 83715 | ESPN | P8T-E | Human | Esophagus | ESCC | 8.87e-32 | 6.10e-01 | 0.0889 |
| 83715 | ESPN | P9T-E | Human | Esophagus | ESCC | 1.82e-07 | 7.74e-02 | 0.1131 |
| 83715 | ESPN | P10T-E | Human | Esophagus | ESCC | 4.00e-11 | 2.30e-01 | 0.116 |
| 83715 | ESPN | P11T-E | Human | Esophagus | ESCC | 1.92e-03 | 1.76e-01 | 0.1426 |
| 83715 | ESPN | P12T-E | Human | Esophagus | ESCC | 4.91e-27 | 6.17e-01 | 0.1122 |
| 83715 | ESPN | P15T-E | Human | Esophagus | ESCC | 2.19e-26 | 4.73e-01 | 0.1149 |
| 83715 | ESPN | P17T-E | Human | Esophagus | ESCC | 2.09e-04 | 2.53e-01 | 0.1278 |
| 83715 | ESPN | P20T-E | Human | Esophagus | ESCC | 6.56e-17 | 3.79e-01 | 0.1124 |
| 83715 | ESPN | P21T-E | Human | Esophagus | ESCC | 3.82e-05 | 1.57e-01 | 0.1617 |
| 83715 | ESPN | P23T-E | Human | Esophagus | ESCC | 6.32e-14 | 2.80e-01 | 0.108 |
| 83715 | ESPN | P24T-E | Human | Esophagus | ESCC | 6.68e-09 | 2.35e-01 | 0.1287 |
| 83715 | ESPN | P26T-E | Human | Esophagus | ESCC | 8.23e-34 | 5.77e-01 | 0.1276 |
| 83715 | ESPN | P27T-E | Human | Esophagus | ESCC | 3.04e-23 | 4.42e-01 | 0.1055 |
| 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 | ||
| 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:000701527 | Esophagus | ESCC | actin filament organization | 259/8552 | 442/18723 | 2.37e-08 | 4.50e-07 | 259 |
| GO:005101727 | Esophagus | ESCC | actin filament bundle assembly | 100/8552 | 157/18723 | 3.87e-06 | 4.17e-05 | 100 |
| GO:006157227 | Esophagus | ESCC | actin filament bundle organization | 101/8552 | 161/18723 | 9.22e-06 | 8.82e-05 | 101 |
| GO:00300339 | Esophagus | ESCC | microvillus assembly | 13/8552 | 16/18723 | 4.05e-03 | 1.62e-02 | 13 |
| GO:000701512 | Liver | Cirrhotic | actin filament organization | 171/4634 | 442/18723 | 3.93e-11 | 2.30e-09 | 171 |
| GO:005101712 | Liver | Cirrhotic | actin filament bundle assembly | 69/4634 | 157/18723 | 1.06e-07 | 3.05e-06 | 69 |
| GO:006157212 | Liver | Cirrhotic | actin filament bundle organization | 70/4634 | 161/18723 | 1.44e-07 | 3.87e-06 | 70 |
| GO:000701522 | Liver | HCC | actin filament organization | 252/7958 | 442/18723 | 3.83e-10 | 1.25e-08 | 252 |
| GO:005101722 | Liver | HCC | actin filament bundle assembly | 96/7958 | 157/18723 | 1.81e-06 | 2.52e-05 | 96 |
| GO:006157222 | Liver | HCC | actin filament bundle organization | 97/7958 | 161/18723 | 4.04e-06 | 5.22e-05 | 97 |
| GO:00325286 | Liver | HCC | microvillus organization | 18/7958 | 24/18723 | 1.27e-03 | 6.92e-03 | 18 |
| GO:000701520 | Oral cavity | OSCC | actin filament organization | 230/7305 | 442/18723 | 1.37e-08 | 2.77e-07 | 230 |
| GO:005101720 | Oral cavity | OSCC | actin filament bundle assembly | 86/7305 | 157/18723 | 4.28e-05 | 3.70e-04 | 86 |
| GO:006157220 | Oral cavity | OSCC | actin filament bundle organization | 87/7305 | 161/18723 | 7.49e-05 | 5.84e-04 | 87 |
| GO:0007015110 | Oral cavity | LP | actin filament organization | 143/4623 | 442/18723 | 1.44e-04 | 1.65e-03 | 143 |
| GO:0051017110 | Oral cavity | LP | actin filament bundle assembly | 53/4623 | 157/18723 | 6.54e-03 | 3.83e-02 | 53 |
| GO:00070156 | Stomach | GC | actin filament organization | 67/1159 | 442/18723 | 7.96e-12 | 2.20e-09 | 67 |
| GO:00325285 | Stomach | GC | microvillus organization | 13/1159 | 24/18723 | 2.41e-10 | 3.75e-08 | 13 |
| GO:00615726 | Stomach | GC | actin filament bundle organization | 30/1159 | 161/18723 | 5.07e-08 | 3.40e-06 | 30 |
| GO:00510176 | Stomach | GC | actin filament bundle assembly | 29/1159 | 157/18723 | 1.03e-07 | 6.28e-06 | 29 |
| Page: 1 2 |
| 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 |
| ESPN | SNV | Missense_Mutation | c.1129N>A | p.Leu377Ile | p.L377I | B1AK53 | protein_coding | deleterious(0) | possibly_damaging(0.459) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| ESPN | SNV | Missense_Mutation | rs751233233 | c.352N>A | p.Glu118Lys | p.E118K | B1AK53 | protein_coding | tolerated(0.1) | benign(0.066) | TCGA-BH-A0H5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
| ESPN | SNV | Missense_Mutation | c.1159N>A | p.His387Asn | p.H387N | B1AK53 | protein_coding | deleterious(0.01) | benign(0.367) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | |
| ESPN | SNV | Missense_Mutation | c.1980N>T | p.Lys660Asn | p.K660N | B1AK53 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-BH-A201-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| ESPN | SNV | Missense_Mutation | novel | c.1208G>C | p.Arg403Thr | p.R403T | B1AK53 | protein_coding | tolerated(0.29) | benign(0) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
| ESPN | SNV | Missense_Mutation | novel | c.1939N>A | p.Ser647Thr | p.S647T | B1AK53 | protein_coding | tolerated(0.06) | possibly_damaging(0.771) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
| ESPN | SNV | Missense_Mutation | rs762623964 | c.1004N>A | p.Arg335His | p.R335H | B1AK53 | protein_coding | deleterious(0.02) | probably_damaging(0.939) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
| ESPN | SNV | Missense_Mutation | c.2295G>C | p.Lys765Asn | p.K765N | B1AK53 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ESPN | SNV | Missense_Mutation | novel | c.592N>C | p.Asp198His | p.D198H | B1AK53 | protein_coding | deleterious(0.01) | possibly_damaging(0.837) | TCGA-ZJ-AAXA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| ESPN | SNV | Missense_Mutation | c.1400N>T | p.Ala467Val | p.A467V | B1AK53 | protein_coding | deleterious_low_confidence(0) | benign(0.157) | TCGA-AZ-5407-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 |
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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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