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Gene: SMAD5 |
Gene summary for SMAD5 |
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Gene information | Species | Human | Gene symbol | SMAD5 | Gene ID | 4090 |
Gene name | SMAD family member 5 | |
Gene Alias | DWFC | |
Cytomap | 5q31.1 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q68DB7 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4090 | SMAD5 | LZE4T | Human | Esophagus | ESCC | 6.08e-22 | 6.27e-01 | 0.0811 |
4090 | SMAD5 | LZE5T | Human | Esophagus | ESCC | 1.80e-04 | 3.17e-01 | 0.0514 |
4090 | SMAD5 | LZE7T | Human | Esophagus | ESCC | 1.13e-04 | 3.07e-01 | 0.0667 |
4090 | SMAD5 | LZE20T | Human | Esophagus | ESCC | 4.53e-06 | 2.08e-01 | 0.0662 |
4090 | SMAD5 | LZE21D1 | Human | Esophagus | HGIN | 3.68e-03 | 2.70e-01 | 0.0632 |
4090 | SMAD5 | LZE24T | Human | Esophagus | ESCC | 1.61e-16 | 6.96e-01 | 0.0596 |
4090 | SMAD5 | P1T-E | Human | Esophagus | ESCC | 6.11e-10 | 4.32e-01 | 0.0875 |
4090 | SMAD5 | P2T-E | Human | Esophagus | ESCC | 1.30e-60 | 1.03e+00 | 0.1177 |
4090 | SMAD5 | P4T-E | Human | Esophagus | ESCC | 2.19e-37 | 9.06e-01 | 0.1323 |
4090 | SMAD5 | P5T-E | Human | Esophagus | ESCC | 2.20e-17 | 3.25e-01 | 0.1327 |
4090 | SMAD5 | P8T-E | Human | Esophagus | ESCC | 1.81e-22 | 3.79e-01 | 0.0889 |
4090 | SMAD5 | P9T-E | Human | Esophagus | ESCC | 2.11e-17 | 3.92e-01 | 0.1131 |
4090 | SMAD5 | P10T-E | Human | Esophagus | ESCC | 2.37e-41 | 8.23e-01 | 0.116 |
4090 | SMAD5 | P11T-E | Human | Esophagus | ESCC | 2.07e-14 | 4.73e-01 | 0.1426 |
4090 | SMAD5 | P12T-E | Human | Esophagus | ESCC | 5.24e-62 | 1.33e+00 | 0.1122 |
4090 | SMAD5 | P15T-E | Human | Esophagus | ESCC | 2.12e-30 | 7.90e-01 | 0.1149 |
4090 | SMAD5 | P16T-E | Human | Esophagus | ESCC | 2.44e-34 | 6.21e-01 | 0.1153 |
4090 | SMAD5 | P17T-E | Human | Esophagus | ESCC | 3.81e-04 | 3.85e-01 | 0.1278 |
4090 | SMAD5 | P19T-E | Human | Esophagus | ESCC | 2.27e-05 | 5.49e-01 | 0.1662 |
4090 | SMAD5 | P20T-E | Human | Esophagus | ESCC | 5.25e-40 | 8.76e-01 | 0.1124 |
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∗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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00717736 | Thyroid | ATC | cellular response to BMP stimulus | 72/6293 | 165/18723 | 4.50e-03 | 1.86e-02 | 72 |
GO:00512163 | Thyroid | ATC | cartilage development | 81/6293 | 190/18723 | 5.70e-03 | 2.30e-02 | 81 |
GO:00305095 | Thyroid | ATC | BMP signaling pathway | 66/6293 | 152/18723 | 7.23e-03 | 2.85e-02 | 66 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa043506 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa0435013 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa043505 | Prostate | BPH | TGF-beta signaling pathway | 35/1718 | 108/8465 | 1.98e-03 | 7.92e-03 | 4.90e-03 | 35 |
hsa0435012 | Prostate | BPH | TGF-beta signaling pathway | 35/1718 | 108/8465 | 1.98e-03 | 7.92e-03 | 4.90e-03 | 35 |
hsa0435021 | Prostate | Tumor | TGF-beta signaling pathway | 39/1791 | 108/8465 | 2.33e-04 | 1.35e-03 | 8.39e-04 | 39 |
hsa0435031 | Prostate | Tumor | TGF-beta signaling pathway | 39/1791 | 108/8465 | 2.33e-04 | 1.35e-03 | 8.39e-04 | 39 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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∗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 |
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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 |
SMAD5 | SNV | Missense_Mutation | c.1394N>T | p.Ser465Leu | p.S465L | Q99717 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
SMAD5 | SNV | Missense_Mutation | novel | c.396N>C | p.Glu132Asp | p.E132D | Q99717 | protein_coding | deleterious(0.04) | benign(0.311) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
SMAD5 | SNV | Missense_Mutation | novel | c.1367N>G | p.Ser456Cys | p.S456C | Q99717 | protein_coding | deleterious(0) | benign(0.443) | TCGA-VS-A9UZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SMAD5 | SNV | Missense_Mutation | novel | c.224G>A | p.Arg75His | p.R75H | Q99717 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMAD5 | SNV | Missense_Mutation | c.853G>A | p.Glu285Lys | p.E285K | Q99717 | protein_coding | deleterious(0.03) | possibly_damaging(0.602) | TCGA-CA-6718-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD | |
SMAD5 | SNV | Missense_Mutation | novel | c.692A>T | p.Asp231Val | p.D231V | Q99717 | protein_coding | tolerated(0.25) | benign(0.027) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SMAD5 | SNV | Missense_Mutation | c.328N>C | p.Cys110Arg | p.C110R | Q99717 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CM-6674-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
SMAD5 | SNV | Missense_Mutation | novel | c.77A>G | p.Glu26Gly | p.E26G | Q99717 | protein_coding | tolerated(0.07) | probably_damaging(0.992) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SMAD5 | SNV | Missense_Mutation | c.1171N>A | p.Leu391Ile | p.L391I | Q99717 | protein_coding | tolerated(0.06) | benign(0.115) | TCGA-EI-6513-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
SMAD5 | SNV | Missense_Mutation | c.356N>G | p.Lys119Arg | p.K119R | Q99717 | protein_coding | deleterious(0.03) | possibly_damaging(0.906) | TCGA-F5-6813-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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