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Gene: ACD |
Gene summary for ACD |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ACD | Gene ID | 65057 |
| Gene name | ACD shelterin complex subunit and telomerase recruitment factor | |
| Gene Alias | PIP1 | |
| Cytomap | 16q22.1 | |
| Gene Type | protein-coding | GO ID | GO:0000723 | UniProtAcc | Q96AP0 |
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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 |
| 65057 | ACD | P48T-E | Human | Esophagus | ESCC | 4.46e-12 | 3.22e-01 | 0.0959 |
| 65057 | ACD | P49T-E | Human | Esophagus | ESCC | 1.17e-09 | 9.16e-01 | 0.1768 |
| 65057 | ACD | P52T-E | Human | Esophagus | ESCC | 1.05e-21 | 5.86e-01 | 0.1555 |
| 65057 | ACD | P54T-E | Human | Esophagus | ESCC | 4.19e-12 | 2.89e-01 | 0.0975 |
| 65057 | ACD | P57T-E | Human | Esophagus | ESCC | 6.94e-15 | 2.57e-01 | 0.0926 |
| 65057 | ACD | P61T-E | Human | Esophagus | ESCC | 4.06e-18 | 3.32e-01 | 0.099 |
| 65057 | ACD | P62T-E | Human | Esophagus | ESCC | 2.18e-41 | 8.33e-01 | 0.1302 |
| 65057 | ACD | P65T-E | Human | Esophagus | ESCC | 5.42e-15 | 1.54e-01 | 0.0978 |
| 65057 | ACD | P74T-E | Human | Esophagus | ESCC | 4.48e-21 | 5.36e-01 | 0.1479 |
| 65057 | ACD | P75T-E | Human | Esophagus | ESCC | 3.84e-26 | 6.37e-01 | 0.1125 |
| 65057 | ACD | P76T-E | Human | Esophagus | ESCC | 4.53e-29 | 6.47e-01 | 0.1207 |
| 65057 | ACD | P79T-E | Human | Esophagus | ESCC | 2.94e-32 | 6.27e-01 | 0.1154 |
| 65057 | ACD | P80T-E | Human | Esophagus | ESCC | 7.44e-16 | 3.82e-01 | 0.155 |
| 65057 | ACD | P82T-E | Human | Esophagus | ESCC | 3.90e-14 | 6.00e-01 | 0.1072 |
| 65057 | ACD | P83T-E | Human | Esophagus | ESCC | 6.48e-38 | 1.13e+00 | 0.1738 |
| 65057 | ACD | P84T-E | Human | Esophagus | ESCC | 5.64e-10 | 4.48e-01 | 0.0933 |
| 65057 | ACD | P89T-E | Human | Esophagus | ESCC | 2.49e-12 | 8.75e-01 | 0.1752 |
| 65057 | ACD | P91T-E | Human | Esophagus | ESCC | 1.95e-16 | 1.36e+00 | 0.1828 |
| 65057 | ACD | P107T-E | Human | Esophagus | ESCC | 2.01e-41 | 8.61e-01 | 0.171 |
| 65057 | ACD | P126T-E | Human | Esophagus | ESCC | 5.83e-12 | 5.21e-01 | 0.1125 |
| Page: 1 2 3 4 5 |
| 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 | ||
| 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:00160329 | Breast | Precancer | viral process | 58/1080 | 415/18723 | 3.42e-10 | 3.16e-08 | 58 |
| GO:00190589 | Breast | Precancer | viral life cycle | 47/1080 | 317/18723 | 2.42e-09 | 1.99e-07 | 47 |
| GO:00507929 | Breast | Precancer | regulation of viral process | 27/1080 | 164/18723 | 7.59e-07 | 3.05e-05 | 27 |
| GO:00190799 | Breast | Precancer | viral genome replication | 22/1080 | 131/18723 | 5.63e-06 | 1.66e-04 | 22 |
| GO:19039009 | Breast | Precancer | regulation of viral life cycle | 23/1080 | 148/18723 | 1.31e-05 | 3.30e-04 | 23 |
| GO:00485249 | Breast | Precancer | positive regulation of viral process | 12/1080 | 65/18723 | 3.00e-04 | 4.34e-03 | 12 |
| GO:00450697 | Breast | Precancer | regulation of viral genome replication | 13/1080 | 85/18723 | 1.12e-03 | 1.23e-02 | 13 |
| GO:00463946 | Breast | Precancer | carboxylic acid biosynthetic process | 32/1080 | 314/18723 | 1.30e-03 | 1.38e-02 | 32 |
| GO:00723304 | Breast | Precancer | monocarboxylic acid biosynthetic process | 24/1080 | 214/18723 | 1.41e-03 | 1.48e-02 | 24 |
| GO:00160536 | Breast | Precancer | organic acid biosynthetic process | 32/1080 | 316/18723 | 1.44e-03 | 1.50e-02 | 32 |
| GO:00066335 | Breast | Precancer | fatty acid biosynthetic process | 19/1080 | 163/18723 | 2.74e-03 | 2.42e-02 | 19 |
| GO:00072496 | Breast | Precancer | I-kappaB kinase/NF-kappaB signaling | 27/1080 | 281/18723 | 6.58e-03 | 4.53e-02 | 27 |
| GO:001603214 | Breast | IDC | viral process | 75/1434 | 415/18723 | 1.98e-12 | 4.02e-10 | 75 |
| GO:001905814 | Breast | IDC | viral life cycle | 61/1434 | 317/18723 | 1.61e-11 | 2.77e-09 | 61 |
| GO:001907914 | Breast | IDC | viral genome replication | 32/1434 | 131/18723 | 2.82e-09 | 2.46e-07 | 32 |
| GO:005079214 | Breast | IDC | regulation of viral process | 36/1434 | 164/18723 | 6.55e-09 | 5.03e-07 | 36 |
| GO:190390014 | Breast | IDC | regulation of viral life cycle | 30/1434 | 148/18723 | 7.25e-07 | 3.35e-05 | 30 |
| GO:004506913 | Breast | IDC | regulation of viral genome replication | 20/1434 | 85/18723 | 4.77e-06 | 1.63e-04 | 20 |
| GO:004852413 | Breast | IDC | positive regulation of viral process | 17/1434 | 65/18723 | 5.31e-06 | 1.75e-04 | 17 |
| GO:00450706 | Breast | IDC | positive regulation of viral genome replication | 9/1434 | 30/18723 | 2.89e-04 | 4.39e-03 | 9 |
| 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 |
| 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 |
| ACD | SNV | Missense_Mutation | c.229N>G | p.Pro77Ala | p.P77A | Q96AP0 | protein_coding | tolerated_low_confidence(0.84) | benign(0) | TCGA-E9-A1NA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| ACD | deletion | Frame_Shift_Del | novel | c.1359delA | p.Lys453AsnfsTer10 | p.K453Nfs*10 | Q96AP0 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
| ACD | SNV | Missense_Mutation | c.874N>T | p.His292Tyr | p.H292Y | Q96AP0 | protein_coding | deleterious(0.01) | benign(0.091) | TCGA-EK-A2RA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ACD | SNV | Missense_Mutation | c.1006N>A | p.Glu336Lys | p.E336K | Q96AP0 | protein_coding | tolerated(0.07) | benign(0.078) | TCGA-FU-A5XV-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
| ACD | insertion | Frame_Shift_Ins | novel | c.1206_1207insTGCTCAC | p.Pro403CysfsTer38 | p.P403Cfs*38 | Q96AP0 | protein_coding | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD | ||
| ACD | SNV | Missense_Mutation | rs747913250 | c.1405N>T | p.Arg469Trp | p.R469W | Q96AP0 | protein_coding | tolerated(0.25) | benign(0) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| ACD | SNV | Missense_Mutation | rs762262197 | c.1261C>T | p.Arg421Cys | p.R421C | Q96AP0 | protein_coding | tolerated(0.19) | benign(0.057) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ACD | SNV | Missense_Mutation | c.469G>A | p.Val157Met | p.V157M | Q96AP0 | protein_coding | tolerated(0.07) | probably_damaging(0.957) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| ACD | SNV | Missense_Mutation | c.1217N>A | p.Cys406Tyr | p.C406Y | Q96AP0 | protein_coding | deleterious(0.04) | possibly_damaging(0.867) | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ACD | SNV | Missense_Mutation | rs781117606 | c.1409N>T | p.Pro470Leu | p.P470L | Q96AP0 | protein_coding | tolerated(0.09) | benign(0) | TCGA-G4-6306-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 |
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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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