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Gene: AASS |
Gene summary for AASS |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | AASS | Gene ID | 10157 |
| Gene name | aminoadipate-semialdehyde synthase | |
| Gene Alias | LKR/SDH | |
| Cytomap | 7q31.32 | |
| Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | A4D0W4 |
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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 |
| 10157 | AASS | NAFLD1 | Human | Liver | NAFLD | 8.29e-11 | 1.08e+00 | -0.04 |
| 10157 | AASS | S41 | Human | Liver | Cirrhotic | 8.90e-04 | 6.38e-01 | -0.0343 |
| 10157 | AASS | HCC1_Meng | Human | Liver | HCC | 8.02e-06 | -1.96e-01 | 0.0246 |
| 10157 | AASS | HCC2_Meng | Human | Liver | HCC | 2.60e-03 | -2.02e-01 | 0.0107 |
| 10157 | AASS | HCC1 | Human | Liver | HCC | 3.15e-12 | 3.20e+00 | 0.5336 |
| 10157 | AASS | HCC2 | Human | Liver | HCC | 4.11e-08 | 3.36e+00 | 0.5341 |
| 10157 | AASS | RNA-P10T2-P10T2-1 | Human | Lung | AAH | 1.51e-05 | 8.32e-01 | -0.1271 |
| 10157 | AASS | RNA-P10T2-P10T2-3 | Human | Lung | AAH | 1.25e-03 | 7.06e-01 | -0.1408 |
| 10157 | AASS | RNA-P10T2-P10T2-4 | Human | Lung | AAH | 7.56e-03 | 7.10e-01 | -0.138 |
| 10157 | AASS | RNA-P18T-P18T-2 | Human | Lung | IAC | 6.10e-03 | 9.96e-01 | 0.1129 |
| 10157 | AASS | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 9.74e-16 | 6.70e-01 | -0.2116 |
| 10157 | AASS | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 8.04e-06 | 6.24e-01 | -0.1941 |
| 10157 | AASS | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 1.64e-06 | 6.51e-01 | -0.2107 |
| 10157 | AASS | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 1.02e-11 | 6.45e-01 | -0.2119 |
| 10157 | AASS | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 2.96e-28 | 8.32e-01 | -0.0166 |
| 10157 | AASS | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 3.13e-26 | 7.50e-01 | -0.0132 |
| 10157 | AASS | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 8.29e-27 | 7.25e-01 | -0.013 |
| 10157 | AASS | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 8.70e-26 | 7.28e-01 | -0.0121 |
| 10157 | AASS | RNA-P7T1-P7T1-1 | Human | Lung | AIS | 1.05e-13 | 1.11e+00 | -0.0961 |
| 10157 | AASS | RNA-P7T1-P7T1-2 | Human | Lung | AIS | 2.00e-16 | 1.21e+00 | -0.0876 |
| Page: 1 2 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:001605411 | Liver | Cirrhotic | organic acid catabolic process | 104/4634 | 240/18723 | 1.91e-10 | 9.53e-09 | 104 |
| GO:004639511 | Liver | Cirrhotic | carboxylic acid catabolic process | 102/4634 | 236/18723 | 3.41e-10 | 1.63e-08 | 102 |
| GO:007252112 | Liver | Cirrhotic | purine-containing compound metabolic process | 156/4634 | 416/18723 | 3.74e-09 | 1.52e-07 | 156 |
| GO:000915012 | Liver | Cirrhotic | purine ribonucleotide metabolic process | 141/4634 | 368/18723 | 4.22e-09 | 1.70e-07 | 141 |
| GO:000679011 | Liver | Cirrhotic | sulfur compound metabolic process | 129/4634 | 339/18723 | 3.06e-08 | 1.04e-06 | 129 |
| GO:000616312 | Liver | Cirrhotic | purine nucleotide metabolic process | 146/4634 | 396/18723 | 4.12e-08 | 1.34e-06 | 146 |
| GO:19016051 | Liver | Cirrhotic | alpha-amino acid metabolic process | 82/4634 | 195/18723 | 7.72e-08 | 2.30e-06 | 82 |
| GO:00090631 | Liver | Cirrhotic | cellular amino acid catabolic process | 49/4634 | 110/18723 | 4.47e-06 | 7.42e-05 | 49 |
| GO:000652011 | Liver | Cirrhotic | cellular amino acid metabolic process | 103/4634 | 284/18723 | 8.88e-06 | 1.30e-04 | 103 |
| GO:00086521 | Liver | Cirrhotic | cellular amino acid biosynthetic process | 36/4634 | 76/18723 | 1.55e-05 | 2.11e-04 | 36 |
| GO:19016071 | Liver | Cirrhotic | alpha-amino acid biosynthetic process | 33/4634 | 68/18723 | 1.84e-05 | 2.49e-04 | 33 |
| GO:001657011 | Liver | Cirrhotic | histone modification | 154/4634 | 463/18723 | 1.92e-05 | 2.57e-04 | 154 |
| GO:003105611 | Liver | Cirrhotic | regulation of histone modification | 59/4634 | 152/18723 | 8.28e-05 | 9.02e-04 | 59 |
| GO:0006084 | Liver | Cirrhotic | acetyl-CoA metabolic process | 19/4634 | 35/18723 | 1.70e-04 | 1.60e-03 | 19 |
| GO:00338651 | Liver | Cirrhotic | nucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
| GO:00338751 | Liver | Cirrhotic | ribonucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
| GO:00340321 | Liver | Cirrhotic | purine nucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
| GO:19016061 | Liver | Cirrhotic | alpha-amino acid catabolic process | 36/4634 | 87/18723 | 4.69e-04 | 3.78e-03 | 36 |
| GO:00066371 | Liver | Cirrhotic | acyl-CoA metabolic process | 38/4634 | 96/18723 | 9.23e-04 | 6.57e-03 | 38 |
| GO:00353831 | Liver | Cirrhotic | thioester metabolic process | 38/4634 | 96/18723 | 9.23e-04 | 6.57e-03 | 38 |
| Page: 1 2 3 4 5 6 7 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa003109 | Lung | IAC | Lysine degradation | 17/1053 | 63/8465 | 1.35e-03 | 8.63e-03 | 5.73e-03 | 17 |
| hsa0031012 | Lung | IAC | Lysine degradation | 17/1053 | 63/8465 | 1.35e-03 | 8.63e-03 | 5.73e-03 | 17 |
| hsa0031022 | Lung | AIS | Lysine degradation | 16/961 | 63/8465 | 1.41e-03 | 9.49e-03 | 6.07e-03 | 16 |
| hsa0031032 | Lung | AIS | Lysine degradation | 16/961 | 63/8465 | 1.41e-03 | 9.49e-03 | 6.07e-03 | 16 |
| 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 |
| AASS | SNV | Missense_Mutation | rs746536178 | c.788N>T | p.Thr263Met | p.T263M | Q9UDR5 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-A2-A0EN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
| AASS | SNV | Missense_Mutation | c.1004N>T | p.Ser335Leu | p.S335L | Q9UDR5 | protein_coding | tolerated(0.74) | benign(0.243) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| AASS | SNV | Missense_Mutation | c.1301C>T | p.Pro434Leu | p.P434L | Q9UDR5 | protein_coding | deleterious(0) | probably_damaging(0.913) | TCGA-C8-A1HI-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| AASS | insertion | Nonsense_Mutation | novel | c.2278_2279insAGT | p.Thr759_Trp760insTer | p.T759_W760ins* | Q9UDR5 | protein_coding | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| AASS | insertion | Nonsense_Mutation | novel | c.2276_2277insTTGGACTTCCTGAAAGTGAGAATCCATGAGAGTTA | p.Lys761ThrfsTer3 | p.K761Tfs*3 | Q9UDR5 | protein_coding | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| AASS | insertion | Nonsense_Mutation | novel | c.1190_1191insTTTATAATGGTAAATGTTTAA | p.Met397delinsIleLeuTerTrpTerMetPheLys | p.M397delinsIL*W*MFK | Q9UDR5 | protein_coding | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
| AASS | deletion | Frame_Shift_Del | novel | c.2015delN | p.Lys672ArgfsTer3 | p.K672Rfs*3 | Q9UDR5 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| AASS | deletion | Frame_Shift_Del | novel | c.2390delN | p.Ala797ValfsTer28 | p.A797Vfs*28 | Q9UDR5 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
| AASS | SNV | Missense_Mutation | rs756447554 | c.824C>T | p.Thr275Ile | p.T275I | Q9UDR5 | protein_coding | tolerated(0.23) | benign(0.329) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| AASS | SNV | Missense_Mutation | c.2554G>A | p.Glu852Lys | p.E852K | Q9UDR5 | protein_coding | deleterious(0) | possibly_damaging(0.549) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
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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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