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Gene: FAM8A1 |
Gene summary for FAM8A1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAM8A1 | Gene ID | 51439 |
| Gene name | family with sequence similarity 8 member A1 | |
| Gene Alias | AHCP | |
| Cytomap | 6p22.3 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | A0A024R006 |
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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 |
| 51439 | FAM8A1 | HCC1_Meng | Human | Liver | HCC | 5.50e-64 | 1.03e-01 | 0.0246 |
| 51439 | FAM8A1 | HCC2_Meng | Human | Liver | HCC | 4.90e-18 | 8.46e-02 | 0.0107 |
| 51439 | FAM8A1 | HCC1 | Human | Liver | HCC | 2.66e-11 | 4.04e+00 | 0.5336 |
| 51439 | FAM8A1 | HCC2 | Human | Liver | HCC | 2.62e-05 | 2.94e+00 | 0.5341 |
| 51439 | FAM8A1 | Pt13.b | Human | Liver | HCC | 3.90e-14 | 2.49e-01 | 0.0251 |
| 51439 | FAM8A1 | Pt14.a | Human | Liver | HCC | 2.06e-02 | 2.66e-01 | 0.0169 |
| 51439 | FAM8A1 | S014 | Human | Liver | HCC | 2.59e-09 | 4.88e-01 | 0.2254 |
| 51439 | FAM8A1 | S015 | Human | Liver | HCC | 7.77e-11 | 7.00e-01 | 0.2375 |
| 51439 | FAM8A1 | S016 | Human | Liver | HCC | 6.93e-15 | 5.95e-01 | 0.2243 |
| 51439 | FAM8A1 | S027 | Human | Liver | HCC | 3.82e-07 | 7.80e-01 | 0.2446 |
| 51439 | FAM8A1 | S028 | Human | Liver | HCC | 1.93e-15 | 8.07e-01 | 0.2503 |
| 51439 | FAM8A1 | S029 | Human | Liver | HCC | 1.70e-13 | 7.50e-01 | 0.2581 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
| GO:004316122 | Liver | HCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 299/7958 | 412/18723 | 7.82e-36 | 8.27e-33 | 299 |
| GO:003497612 | Liver | HCC | response to endoplasmic reticulum stress | 189/7958 | 256/18723 | 1.43e-24 | 4.06e-22 | 189 |
| GO:003650311 | Liver | HCC | ERAD pathway | 88/7958 | 107/18723 | 2.87e-17 | 2.85e-15 | 88 |
| GO:00304331 | Liver | HCC | ubiquitin-dependent ERAD pathway | 72/7958 | 85/18723 | 9.78e-16 | 7.47e-14 | 72 |
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| 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 |
| FAM8A1 | SNV | Missense_Mutation | c.1120N>C | p.Lys374Gln | p.K374Q | Q9UBU6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A1Y3-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| FAM8A1 | SNV | Missense_Mutation | rs776781477 | c.1130N>T | p.Ser377Leu | p.S377L | Q9UBU6 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-GM-A3NW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
| FAM8A1 | insertion | In_Frame_Ins | novel | c.1227_1228insGGCTTTGTCCCTTGTGCATGGTGC | p.Arg409_Asn410insGlyPheValProCysAlaTrpCys | p.R409_N410insGFVPCAWC | Q9UBU6 | protein_coding | TCGA-D8-A1Y3-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD | ||
| FAM8A1 | insertion | Frame_Shift_Ins | novel | c.1139_1140insT | p.Ala384CysfsTer11 | p.A384Cfs*11 | Q9UBU6 | protein_coding | TCGA-EW-A6SD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tch | SD | ||
| FAM8A1 | SNV | Missense_Mutation | rs772740571 | c.943N>A | p.Val315Ile | p.V315I | Q9UBU6 | protein_coding | tolerated(0.08) | probably_damaging(0.99) | TCGA-IR-A3LC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unspecific | Cisplatin | Complete Response |
| FAM8A1 | SNV | Missense_Mutation | c.1122N>T | p.Lys374Asn | p.K374N | Q9UBU6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
| FAM8A1 | SNV | Missense_Mutation | novel | c.749N>G | p.Phe250Cys | p.F250C | Q9UBU6 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| FAM8A1 | SNV | Missense_Mutation | novel | c.1024A>G | p.Thr342Ala | p.T342A | Q9UBU6 | protein_coding | deleterious(0) | benign(0.289) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| FAM8A1 | SNV | Missense_Mutation | novel | c.1180N>G | p.Asn394Asp | p.N394D | Q9UBU6 | protein_coding | deleterious(0.01) | probably_damaging(0.978) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| FAM8A1 | SNV | Missense_Mutation | novel | c.942N>C | p.Leu314Phe | p.L314F | Q9UBU6 | protein_coding | deleterious(0.01) | possibly_damaging(0.815) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | 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 |
| Page: 1 |
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