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Gene: AP5S1 |
Gene summary for AP5S1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | AP5S1 | Gene ID | 55317 |
Gene name | adaptor related protein complex 5 subunit sigma 1 | |
Gene Alias | C20orf29 | |
Cytomap | 20p13 | |
Gene Type | protein-coding | GO ID | GO:0000724 | UniProtAcc | Q9NUS5 |
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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 |
55317 | AP5S1 | LZE4T | Human | Esophagus | ESCC | 2.45e-09 | 2.54e-01 | 0.0811 |
55317 | AP5S1 | LZE7T | Human | Esophagus | ESCC | 1.02e-03 | 2.24e-01 | 0.0667 |
55317 | AP5S1 | LZE22T | Human | Esophagus | ESCC | 1.57e-02 | 2.15e-01 | 0.068 |
55317 | AP5S1 | LZE24T | Human | Esophagus | ESCC | 4.99e-09 | 2.52e-01 | 0.0596 |
55317 | AP5S1 | LZE6T | Human | Esophagus | ESCC | 1.71e-05 | 2.28e-01 | 0.0845 |
55317 | AP5S1 | P1T-E | Human | Esophagus | ESCC | 2.97e-02 | 1.38e-01 | 0.0875 |
55317 | AP5S1 | P2T-E | Human | Esophagus | ESCC | 3.43e-14 | 2.61e-01 | 0.1177 |
55317 | AP5S1 | P4T-E | Human | Esophagus | ESCC | 1.06e-14 | 3.21e-01 | 0.1323 |
55317 | AP5S1 | P5T-E | Human | Esophagus | ESCC | 1.66e-02 | 8.64e-02 | 0.1327 |
55317 | AP5S1 | P8T-E | Human | Esophagus | ESCC | 9.56e-08 | 1.72e-01 | 0.0889 |
55317 | AP5S1 | P9T-E | Human | Esophagus | ESCC | 4.72e-09 | 1.95e-01 | 0.1131 |
55317 | AP5S1 | P10T-E | Human | Esophagus | ESCC | 1.02e-31 | 4.96e-01 | 0.116 |
55317 | AP5S1 | P11T-E | Human | Esophagus | ESCC | 1.78e-13 | 4.59e-01 | 0.1426 |
55317 | AP5S1 | P12T-E | Human | Esophagus | ESCC | 7.31e-14 | 2.98e-01 | 0.1122 |
55317 | AP5S1 | P15T-E | Human | Esophagus | ESCC | 3.12e-08 | 2.01e-01 | 0.1149 |
55317 | AP5S1 | P16T-E | Human | Esophagus | ESCC | 2.13e-27 | 4.39e-01 | 0.1153 |
55317 | AP5S1 | P17T-E | Human | Esophagus | ESCC | 3.47e-14 | 4.08e-01 | 0.1278 |
55317 | AP5S1 | P19T-E | Human | Esophagus | ESCC | 3.75e-07 | 3.98e-01 | 0.1662 |
55317 | AP5S1 | P20T-E | Human | Esophagus | ESCC | 2.18e-13 | 2.89e-01 | 0.1124 |
55317 | AP5S1 | P21T-E | Human | Esophagus | ESCC | 9.78e-30 | 5.79e-01 | 0.1617 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
GO:00063101 | Esophagus | ESCC | DNA recombination | 168/8552 | 305/18723 | 5.58e-04 | 3.05e-03 | 168 |
GO:00007241 | Esophagus | ESCC | double-strand break repair via homologous recombination | 79/8552 | 138/18723 | 4.05e-03 | 1.62e-02 | 79 |
GO:00007251 | Esophagus | ESCC | recombinational repair | 80/8552 | 140/18723 | 4.10e-03 | 1.63e-02 | 80 |
GO:001619721 | Liver | HCC | endosomal transport | 154/7958 | 230/18723 | 4.74e-14 | 2.95e-12 | 154 |
GO:00063021 | Liver | HCC | double-strand break repair | 131/7958 | 251/18723 | 1.17e-03 | 6.54e-03 | 131 |
GO:00161979 | Oral cavity | OSCC | endosomal transport | 141/7305 | 230/18723 | 5.40e-12 | 2.06e-10 | 141 |
GO:00063023 | Oral cavity | OSCC | double-strand break repair | 132/7305 | 251/18723 | 7.93e-06 | 8.52e-05 | 132 |
GO:0006310 | Oral cavity | OSCC | DNA recombination | 147/7305 | 305/18723 | 6.33e-04 | 3.56e-03 | 147 |
GO:0000725 | Oral cavity | OSCC | recombinational repair | 70/7305 | 140/18723 | 5.22e-03 | 2.03e-02 | 70 |
GO:0000724 | Oral cavity | OSCC | double-strand break repair via homologous recombination | 69/7305 | 138/18723 | 5.52e-03 | 2.14e-02 | 69 |
GO:001619714 | Oral cavity | LP | endosomal transport | 98/4623 | 230/18723 | 1.65e-09 | 7.50e-08 | 98 |
GO:000630211 | Oral cavity | LP | double-strand break repair | 80/4623 | 251/18723 | 5.81e-03 | 3.46e-02 | 80 |
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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 |
AP5S1 | SNV | Missense_Mutation | rs765677394 | c.494N>A | p.Arg165His | p.R165H | Q9NUS5 | protein_coding | tolerated(0.11) | benign(0.011) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AP5S1 | SNV | Missense_Mutation | rs369900734 | c.295N>T | p.Arg99Cys | p.R99C | Q9NUS5 | protein_coding | deleterious(0.04) | possibly_damaging(0.721) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
AP5S1 | SNV | Missense_Mutation | c.32N>T | p.Arg11Met | p.R11M | Q9NUS5 | protein_coding | tolerated(0.12) | possibly_damaging(0.518) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD | |
AP5S1 | SNV | Missense_Mutation | rs765677394 | c.494G>A | p.Arg165His | p.R165H | Q9NUS5 | protein_coding | tolerated(0.11) | benign(0.011) | TCGA-CK-5913-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AP5S1 | SNV | Missense_Mutation | c.505A>G | p.Ile169Val | p.I169V | Q9NUS5 | protein_coding | tolerated(0.45) | benign(0.013) | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
AP5S1 | SNV | Missense_Mutation | c.221G>A | p.Arg74Gln | p.R74Q | Q9NUS5 | protein_coding | deleterious(0.04) | benign(0.236) | TCGA-G4-6303-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fu | PD | |
AP5S1 | SNV | Missense_Mutation | rs745830839 | c.82N>A | p.Val28Ile | p.V28I | Q9NUS5 | protein_coding | tolerated(0.08) | benign(0.003) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AP5S1 | SNV | Missense_Mutation | rs780228662 | c.130G>A | p.Glu44Lys | p.E44K | Q9NUS5 | protein_coding | deleterious(0.01) | benign(0.381) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
AP5S1 | SNV | Missense_Mutation | c.544N>T | p.Leu182Phe | p.L182F | Q9NUS5 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-B5-A11S-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
AP5S1 | SNV | Missense_Mutation | rs146073355 | c.10N>A | p.Ala4Thr | p.A4T | Q9NUS5 | protein_coding | deleterious(0.02) | probably_damaging(0.966) | TCGA-BG-A3EW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
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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 |
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