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Gene: RTFDC1 |
Gene summary for RTFDC1 |
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Gene information | Species | Human | Gene symbol | RTFDC1 | Gene ID | 51507 |
Gene name | replication termination factor 2 | |
Gene Alias | C20orf43 | |
Cytomap | 20q13.31 | |
Gene Type | protein-coding | GO ID | GO:0000278 | UniProtAcc | A0A0A0MQR2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
51507 | RTFDC1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 7.11e-14 | 2.45e-01 | 0.294 |
51507 | RTFDC1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 7.89e-03 | 5.85e-01 | 0.3487 |
51507 | RTFDC1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 7.13e-20 | 5.64e-01 | 0.281 |
51507 | RTFDC1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.41e-57 | 1.04e+00 | 0.3859 |
51507 | RTFDC1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 6.27e-19 | 6.28e-01 | 0.2585 |
51507 | RTFDC1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.63e-22 | 4.13e-01 | 0.3005 |
51507 | RTFDC1 | P1T-E | Human | Esophagus | ESCC | 1.30e-09 | 8.65e-01 | 0.0875 |
51507 | RTFDC1 | P2T-E | Human | Esophagus | ESCC | 1.27e-57 | 1.08e+00 | 0.1177 |
51507 | RTFDC1 | P4T-E | Human | Esophagus | ESCC | 2.30e-24 | 5.51e-01 | 0.1323 |
51507 | RTFDC1 | P5T-E | Human | Esophagus | ESCC | 5.45e-29 | 7.14e-01 | 0.1327 |
51507 | RTFDC1 | P8T-E | Human | Esophagus | ESCC | 1.08e-25 | 4.68e-01 | 0.0889 |
51507 | RTFDC1 | P9T-E | Human | Esophagus | ESCC | 1.59e-18 | 4.75e-01 | 0.1131 |
51507 | RTFDC1 | P10T-E | Human | Esophagus | ESCC | 3.59e-71 | 1.32e+00 | 0.116 |
51507 | RTFDC1 | P11T-E | Human | Esophagus | ESCC | 3.52e-31 | 1.14e+00 | 0.1426 |
51507 | RTFDC1 | P12T-E | Human | Esophagus | ESCC | 1.79e-56 | 1.17e+00 | 0.1122 |
51507 | RTFDC1 | P15T-E | Human | Esophagus | ESCC | 3.58e-60 | 1.20e+00 | 0.1149 |
51507 | RTFDC1 | P16T-E | Human | Esophagus | ESCC | 3.78e-66 | 1.22e+00 | 0.1153 |
51507 | RTFDC1 | P17T-E | Human | Esophagus | ESCC | 8.55e-25 | 1.23e+00 | 0.1278 |
51507 | RTFDC1 | P19T-E | Human | Esophagus | ESCC | 1.01e-15 | 1.45e+00 | 0.1662 |
51507 | RTFDC1 | P20T-E | Human | Esophagus | ESCC | 2.60e-64 | 1.44e+00 | 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:0072521111 | Esophagus | ESCC | purine-containing compound metabolic process | 238/8552 | 416/18723 | 1.20e-06 | 1.49e-05 | 238 |
GO:007252217 | Esophagus | ESCC | purine-containing compound biosynthetic process | 120/8552 | 200/18723 | 3.02e-05 | 2.51e-04 | 120 |
GO:19016574 | Esophagus | ESCC | glycosyl compound metabolic process | 57/8552 | 88/18723 | 2.32e-04 | 1.44e-03 | 57 |
GO:00091163 | Esophagus | ESCC | nucleoside metabolic process | 39/8552 | 62/18723 | 4.68e-03 | 1.82e-02 | 39 |
GO:00430941 | Esophagus | ESCC | cellular metabolic compound salvage | 18/8552 | 26/18723 | 1.32e-02 | 4.31e-02 | 18 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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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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. |
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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 |
RTFDC1 | SNV | Missense_Mutation | c.965N>T | p.Lys322Met | p.K322M | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | SD | |||
RTFDC1 | SNV | Missense_Mutation | c.64N>C | p.Glu22Gln | p.E22Q | protein_coding | deleterious(0.02) | probably_damaging(0.978) | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD | ||
RTFDC1 | SNV | Missense_Mutation | c.944N>G | p.His315Arg | p.H315R | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | ||
RTFDC1 | SNV | Missense_Mutation | c.802N>G | p.Lys268Glu | p.K268E | protein_coding | tolerated(0.62) | benign(0.026) | TCGA-B6-A1KF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
RTFDC1 | SNV | Missense_Mutation | novel | c.797N>C | p.Arg266Thr | p.R266T | protein_coding | tolerated(0.61) | benign(0.02) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
RTFDC1 | insertion | In_Frame_Ins | novel | c.650_651insCATGCTGAAGACAAGGATGGA | p.Met216_Glu217insAspMetLeuLysThrArgMet | p.M216_E217insDMLKTRM | protein_coding | TCGA-D8-A13Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD | |||
RTFDC1 | SNV | Missense_Mutation | rs530872363 | c.163N>A | p.Asp55Asn | p.D55N | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
RTFDC1 | SNV | Missense_Mutation | c.470N>T | p.Glu157Val | p.E157V | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-F4-6703-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
RTFDC1 | deletion | Frame_Shift_Del | c.13delN | p.Gly6GlufsTer10 | p.G6Efs*10 | protein_coding | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||||
RTFDC1 | SNV | Missense_Mutation | c.780N>T | p.Glu260Asp | p.E260D | protein_coding | tolerated(0.55) | benign(0.003) | TCGA-A5-A0G5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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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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