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Gene: FAM120A |
Gene summary for FAM120A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAM120A | Gene ID | 23196 |
| Gene name | family with sequence similarity 120A | |
| Gene Alias | C9orf10 | |
| Cytomap | 9q22.31 | |
| Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q9NZB2 |
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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 |
| 23196 | FAM120A | P84T-E | Human | Esophagus | ESCC | 3.05e-10 | 1.76e-01 | 0.0933 |
| 23196 | FAM120A | P89T-E | Human | Esophagus | ESCC | 1.81e-04 | 6.03e-01 | 0.1752 |
| 23196 | FAM120A | P91T-E | Human | Esophagus | ESCC | 1.43e-15 | 1.54e+00 | 0.1828 |
| 23196 | FAM120A | P94T-E | Human | Esophagus | ESCC | 4.68e-02 | 9.05e-01 | 0.0879 |
| 23196 | FAM120A | P107T-E | Human | Esophagus | ESCC | 7.26e-38 | 1.04e+00 | 0.171 |
| 23196 | FAM120A | P126T-E | Human | Esophagus | ESCC | 6.44e-05 | 9.24e-01 | 0.1125 |
| 23196 | FAM120A | P127T-E | Human | Esophagus | ESCC | 6.27e-22 | 4.11e-01 | 0.0826 |
| 23196 | FAM120A | P128T-E | Human | Esophagus | ESCC | 1.63e-17 | 6.64e-01 | 0.1241 |
| 23196 | FAM120A | P130T-E | Human | Esophagus | ESCC | 8.90e-22 | 5.28e-01 | 0.1676 |
| 23196 | FAM120A | NAFLD1 | Human | Liver | NAFLD | 2.12e-07 | 5.05e-01 | -0.04 |
| 23196 | FAM120A | S43 | Human | Liver | Cirrhotic | 6.35e-03 | 1.06e-02 | -0.0187 |
| 23196 | FAM120A | HCC1_Meng | Human | Liver | HCC | 1.31e-69 | 7.25e-02 | 0.0246 |
| 23196 | FAM120A | HCC2_Meng | Human | Liver | HCC | 1.41e-42 | 4.71e-01 | 0.0107 |
| 23196 | FAM120A | HCC1 | Human | Liver | HCC | 1.51e-08 | 3.56e+00 | 0.5336 |
| 23196 | FAM120A | HCC2 | Human | Liver | HCC | 2.14e-19 | 3.71e+00 | 0.5341 |
| 23196 | FAM120A | Pt13.b | Human | Liver | HCC | 1.30e-11 | 1.12e-01 | 0.0251 |
| 23196 | FAM120A | Pt14.a | Human | Liver | HCC | 4.87e-02 | 2.92e-01 | 0.0169 |
| 23196 | FAM120A | Pt14.b | Human | Liver | HCC | 1.81e-03 | 2.35e-01 | 0.018 |
| 23196 | FAM120A | S014 | Human | Liver | HCC | 2.35e-10 | 4.87e-01 | 0.2254 |
| 23196 | FAM120A | S015 | Human | Liver | HCC | 3.11e-09 | 6.71e-01 | 0.2375 |
| Page: 1 2 3 4 5 6 7 8 9 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| 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 | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Page: 1 |
| 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 |
| FAM120A | SNV | Missense_Mutation | novel | c.1193N>G | p.Ser398Cys | p.S398C | Q9NZB2 | protein_coding | deleterious(0.03) | benign(0.223) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
| FAM120A | SNV | Missense_Mutation | c.1828N>C | p.Tyr610His | p.Y610H | Q9NZB2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| FAM120A | SNV | Missense_Mutation | c.791N>C | p.Leu264Pro | p.L264P | Q9NZB2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E2-A1IF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| FAM120A | SNV | Missense_Mutation | c.760N>T | p.His254Tyr | p.H254Y | Q9NZB2 | protein_coding | tolerated(0.26) | probably_damaging(0.986) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| FAM120A | SNV | Missense_Mutation | c.1012N>T | p.His338Tyr | p.H338Y | Q9NZB2 | protein_coding | tolerated(1) | benign(0.359) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| FAM120A | insertion | Nonsense_Mutation | novel | c.2963_2964insGAGTGTTCAGTTTTGACACTCTTTCTGT | p.Ile989SerfsTer5 | p.I989Sfs*5 | Q9NZB2 | protein_coding | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | ||
| FAM120A | insertion | Frame_Shift_Ins | novel | c.1480_1481insAACT | p.Arg494GlnfsTer62 | p.R494Qfs*62 | Q9NZB2 | protein_coding | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR | ||
| FAM120A | insertion | Nonsense_Mutation | novel | c.1481_1482insTCTGTAGCGTCGGCTCGGCTCTGCTGTGGTAGC | p.Arg494_Gly495insLeuTerArgArgLeuGlySerAlaValValAla | p.R494_G495insL*RRLGSAVVA | Q9NZB2 | protein_coding | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR | ||
| FAM120A | insertion | In_Frame_Ins | novel | c.2897_2898insAATACTGGT | p.Gly966_Arg967insIleLeuVal | p.G966_R967insILV | Q9NZB2 | protein_coding | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR | ||
| FAM120A | insertion | Frame_Shift_Ins | novel | c.2899_2900insCCAGGACCATGGGCACA | p.Arg967ProfsTer33 | p.R967Pfs*33 | Q9NZB2 | protein_coding | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
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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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