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Gene: NSMAF |
Gene summary for NSMAF |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | NSMAF | Gene ID | 8439 |
| Gene name | neutral sphingomyelinase activation associated factor | |
| Gene Alias | FAN | |
| Cytomap | 8q12.1 | |
| Gene Type | protein-coding | GO ID | GO:0006629 | UniProtAcc | Q92636 |
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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 |
| 8439 | NSMAF | P49T-E | Human | Esophagus | ESCC | 7.97e-13 | 1.01e+00 | 0.1768 |
| 8439 | NSMAF | P52T-E | Human | Esophagus | ESCC | 2.29e-10 | 3.01e-01 | 0.1555 |
| 8439 | NSMAF | P54T-E | Human | Esophagus | ESCC | 2.16e-12 | 2.36e-01 | 0.0975 |
| 8439 | NSMAF | P56T-E | Human | Esophagus | ESCC | 6.66e-05 | 3.70e-01 | 0.1613 |
| 8439 | NSMAF | P57T-E | Human | Esophagus | ESCC | 1.53e-09 | 1.45e-01 | 0.0926 |
| 8439 | NSMAF | P61T-E | Human | Esophagus | ESCC | 3.11e-12 | 2.04e-01 | 0.099 |
| 8439 | NSMAF | P62T-E | Human | Esophagus | ESCC | 2.84e-41 | 5.89e-01 | 0.1302 |
| 8439 | NSMAF | P65T-E | Human | Esophagus | ESCC | 3.37e-05 | 9.07e-02 | 0.0978 |
| 8439 | NSMAF | P74T-E | Human | Esophagus | ESCC | 6.89e-16 | 4.47e-01 | 0.1479 |
| 8439 | NSMAF | P75T-E | Human | Esophagus | ESCC | 2.48e-19 | 3.65e-01 | 0.1125 |
| 8439 | NSMAF | P76T-E | Human | Esophagus | ESCC | 4.45e-05 | 1.14e-01 | 0.1207 |
| 8439 | NSMAF | P79T-E | Human | Esophagus | ESCC | 6.61e-16 | 2.24e-01 | 0.1154 |
| 8439 | NSMAF | P80T-E | Human | Esophagus | ESCC | 3.87e-19 | 4.19e-01 | 0.155 |
| 8439 | NSMAF | P82T-E | Human | Esophagus | ESCC | 5.97e-09 | 3.08e-01 | 0.1072 |
| 8439 | NSMAF | P83T-E | Human | Esophagus | ESCC | 2.39e-19 | 3.98e-01 | 0.1738 |
| 8439 | NSMAF | P84T-E | Human | Esophagus | ESCC | 1.67e-05 | 2.45e-01 | 0.0933 |
| 8439 | NSMAF | P89T-E | Human | Esophagus | ESCC | 4.92e-14 | 5.00e-01 | 0.1752 |
| 8439 | NSMAF | P91T-E | Human | Esophagus | ESCC | 3.13e-07 | 5.40e-01 | 0.1828 |
| 8439 | NSMAF | P104T-E | Human | Esophagus | ESCC | 2.06e-06 | 2.55e-01 | 0.0931 |
| 8439 | NSMAF | P107T-E | Human | Esophagus | ESCC | 2.23e-21 | 3.85e-01 | 0.171 |
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| 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 | ||
| 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 |
| GO:00066433 | Esophagus | ESCC | membrane lipid metabolic process | 130/8552 | 203/18723 | 9.29e-08 | 1.54e-06 | 130 |
| GO:00066652 | Esophagus | ESCC | sphingolipid metabolic process | 96/8552 | 155/18723 | 3.21e-05 | 2.66e-04 | 96 |
| GO:00066721 | Esophagus | ESCC | ceramide metabolic process | 61/8552 | 102/18723 | 2.82e-03 | 1.19e-02 | 61 |
| GO:00066431 | Liver | HCC | membrane lipid metabolic process | 115/7958 | 203/18723 | 3.17e-05 | 3.22e-04 | 115 |
| GO:0006665 | Liver | HCC | sphingolipid metabolic process | 85/7958 | 155/18723 | 1.27e-03 | 6.92e-03 | 85 |
| GO:00066432 | Oral cavity | OSCC | membrane lipid metabolic process | 111/7305 | 203/18723 | 4.02e-06 | 4.69e-05 | 111 |
| GO:00066651 | Oral cavity | OSCC | sphingolipid metabolic process | 84/7305 | 155/18723 | 8.64e-05 | 6.61e-04 | 84 |
| GO:0006672 | Oral cavity | OSCC | ceramide metabolic process | 53/7305 | 102/18723 | 5.28e-03 | 2.06e-02 | 53 |
| GO:000664311 | Oral cavity | LP | membrane lipid metabolic process | 69/4623 | 203/18723 | 1.77e-03 | 1.34e-02 | 69 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0407116 | Esophagus | ESCC | Sphingolipid signaling pathway | 85/4205 | 121/8465 | 3.04e-06 | 1.73e-05 | 8.84e-06 | 85 |
| hsa0407117 | Esophagus | ESCC | Sphingolipid signaling pathway | 85/4205 | 121/8465 | 3.04e-06 | 1.73e-05 | 8.84e-06 | 85 |
| hsa040718 | Liver | HCC | Sphingolipid signaling pathway | 72/4020 | 121/8465 | 5.01e-03 | 1.47e-02 | 8.18e-03 | 72 |
| hsa0407111 | Liver | HCC | Sphingolipid signaling pathway | 72/4020 | 121/8465 | 5.01e-03 | 1.47e-02 | 8.18e-03 | 72 |
| hsa0407114 | Oral cavity | OSCC | Sphingolipid signaling pathway | 82/3704 | 121/8465 | 6.97e-08 | 5.08e-07 | 2.58e-07 | 82 |
| hsa0407115 | Oral cavity | OSCC | Sphingolipid signaling pathway | 82/3704 | 121/8465 | 6.97e-08 | 5.08e-07 | 2.58e-07 | 82 |
| hsa0407122 | Oral cavity | LP | Sphingolipid signaling pathway | 48/2418 | 121/8465 | 5.30e-03 | 2.15e-02 | 1.39e-02 | 48 |
| hsa0407132 | Oral cavity | LP | Sphingolipid signaling pathway | 48/2418 | 121/8465 | 5.30e-03 | 2.15e-02 | 1.39e-02 | 48 |
| hsa0407141 | Oral cavity | EOLP | Sphingolipid signaling pathway | 44/1218 | 121/8465 | 1.19e-09 | 3.51e-08 | 2.07e-08 | 44 |
| hsa0407151 | Oral cavity | EOLP | Sphingolipid signaling pathway | 44/1218 | 121/8465 | 1.19e-09 | 3.51e-08 | 2.07e-08 | 44 |
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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. |
| 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 |
| NSMAF | SNV | Missense_Mutation | c.2162C>A | p.Ser721Tyr | p.S721Y | Q92636 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |
| NSMAF | SNV | Missense_Mutation | novel | c.2130N>T | p.Leu710Phe | p.L710F | Q92636 | protein_coding | tolerated(0.07) | benign(0.017) | TCGA-B6-A1KF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| NSMAF | SNV | Missense_Mutation | c.2326N>C | p.Glu776Gln | p.E776Q | Q92636 | protein_coding | tolerated(0.29) | benign(0.309) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| NSMAF | SNV | Missense_Mutation | novel | c.1402N>A | p.Asp468Asn | p.D468N | Q92636 | protein_coding | tolerated(0.42) | possibly_damaging(0.757) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| NSMAF | SNV | Missense_Mutation | novel | c.2690N>C | p.Gly897Ala | p.G897A | Q92636 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-UU-A93S-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
| NSMAF | insertion | In_Frame_Ins | novel | c.1411_1412insACAGATACCTGTTTTTGCTGATGTTGTTTGTTTTCAGCTATAGAC | p.Thr471delinsAsnArgTyrLeuPheLeuLeuMetLeuPheValPheSerTyrArgPro | p.T471delinsNRYLFLLMLFVFSYRP | Q92636 | protein_coding | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD | ||
| NSMAF | insertion | Frame_Shift_Ins | novel | c.1822_1823insGA | p.Thr608ArgfsTer30 | p.T608Rfs*30 | Q92636 | protein_coding | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
| NSMAF | insertion | Frame_Shift_Ins | novel | c.1820_1821insGGGATTAAACTGTTTTAAGCTGAGT | p.Ile607MetfsTer14 | p.I607Mfs*14 | Q92636 | protein_coding | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
| NSMAF | insertion | Frame_Shift_Ins | novel | c.1289_1290insCGGCCTCCCAAAGTGCTGGGATTACAGG | p.Phe431GlyfsTer14 | p.F431Gfs*14 | Q92636 | protein_coding | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD | ||
| NSMAF | SNV | Missense_Mutation | c.377G>C | p.Arg126Thr | p.R126T | Q92636 | protein_coding | tolerated(0.47) | benign(0) | TCGA-EK-A2R8-01 | Cervix | cervical & endocervical cancer | 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 |
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