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Gene: RFFL |
Gene summary for RFFL |
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Gene information | Species | Human | Gene symbol | RFFL | Gene ID | 117584 |
Gene name | ring finger and FYVE like domain containing E3 ubiquitin protein ligase | |
Gene Alias | CARP-2 | |
Cytomap | 17q12 | |
Gene Type | protein-coding | GO ID | GO:0000209 | UniProtAcc | Q8WZ73 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
117584 | RFFL | HCC1_Meng | Human | Liver | HCC | 1.41e-63 | 9.70e-02 | 0.0246 |
117584 | RFFL | HCC2_Meng | Human | Liver | HCC | 9.55e-10 | 6.42e-02 | 0.0107 |
117584 | RFFL | Pt14.a | Human | Liver | HCC | 3.19e-02 | 2.09e-01 | 0.0169 |
117584 | RFFL | S014 | Human | Liver | HCC | 2.03e-12 | 4.13e-01 | 0.2254 |
117584 | RFFL | S015 | Human | Liver | HCC | 1.45e-12 | 3.76e-01 | 0.2375 |
117584 | RFFL | S016 | Human | Liver | HCC | 1.75e-07 | 2.45e-01 | 0.2243 |
117584 | RFFL | S027 | Human | Liver | HCC | 3.78e-04 | 4.26e-01 | 0.2446 |
117584 | RFFL | S028 | Human | Liver | HCC | 1.76e-16 | 6.45e-01 | 0.2503 |
117584 | RFFL | S029 | Human | Liver | HCC | 2.27e-18 | 7.22e-01 | 0.2581 |
117584 | RFFL | male-WTA | Human | Thyroid | PTC | 4.19e-21 | 2.25e-01 | 0.1037 |
117584 | RFFL | PTC01 | Human | Thyroid | PTC | 2.62e-05 | 7.97e-02 | 0.1899 |
117584 | RFFL | PTC04 | Human | Thyroid | PTC | 4.00e-06 | 2.37e-01 | 0.1927 |
117584 | RFFL | PTC05 | Human | Thyroid | PTC | 5.19e-04 | 2.51e-01 | 0.2065 |
117584 | RFFL | PTC06 | Human | Thyroid | PTC | 5.15e-29 | 6.54e-01 | 0.2057 |
117584 | RFFL | PTC07 | Human | Thyroid | PTC | 7.91e-16 | 2.91e-01 | 0.2044 |
117584 | RFFL | ATC12 | Human | Thyroid | ATC | 7.93e-03 | -4.03e-02 | 0.34 |
117584 | RFFL | ATC13 | Human | Thyroid | ATC | 5.38e-17 | 1.79e-01 | 0.34 |
117584 | RFFL | ATC4 | Human | Thyroid | ATC | 5.63e-05 | -1.51e-02 | 0.34 |
117584 | RFFL | ATC5 | Human | Thyroid | ATC | 3.25e-08 | 1.96e-01 | 0.34 |
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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: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:200123322 | Liver | HCC | regulation of apoptotic signaling pathway | 226/7958 | 356/18723 | 7.26e-16 | 5.68e-14 | 226 |
GO:009719122 | Liver | HCC | extrinsic apoptotic signaling pathway | 143/7958 | 219/18723 | 6.99e-12 | 2.97e-10 | 143 |
GO:200123412 | Liver | HCC | negative regulation of apoptotic signaling pathway | 145/7958 | 224/18723 | 1.33e-11 | 5.36e-10 | 145 |
GO:000020921 | Liver | HCC | protein polyubiquitination | 151/7958 | 236/18723 | 1.90e-11 | 7.59e-10 | 151 |
GO:007093621 | Liver | HCC | protein K48-linked ubiquitination | 52/7958 | 65/18723 | 6.70e-10 | 2.11e-08 | 52 |
GO:007233122 | Liver | HCC | signal transduction by p53 class mediator | 108/7958 | 163/18723 | 7.14e-10 | 2.23e-08 | 108 |
GO:200123621 | Liver | HCC | regulation of extrinsic apoptotic signaling pathway | 98/7958 | 151/18723 | 2.17e-08 | 5.08e-07 | 98 |
GO:190179622 | Liver | HCC | regulation of signal transduction by p53 class mediator | 64/7958 | 93/18723 | 2.53e-07 | 4.45e-06 | 64 |
GO:004328112 | Liver | HCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 125/7958 | 209/18723 | 3.12e-07 | 5.42e-06 | 125 |
GO:200011612 | Liver | HCC | regulation of cysteine-type endopeptidase activity | 137/7958 | 235/18723 | 6.91e-07 | 1.08e-05 | 137 |
GO:005254722 | Liver | HCC | regulation of peptidase activity | 247/7958 | 461/18723 | 8.28e-07 | 1.27e-05 | 247 |
GO:004315412 | Liver | HCC | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 54/7958 | 78/18723 | 1.61e-06 | 2.27e-05 | 54 |
GO:005254822 | Liver | HCC | regulation of endopeptidase activity | 230/7958 | 432/18723 | 3.58e-06 | 4.68e-05 | 230 |
GO:000862511 | Liver | HCC | extrinsic apoptotic signaling pathway via death domain receptors | 55/7958 | 82/18723 | 5.97e-06 | 7.35e-05 | 55 |
GO:200011712 | Liver | HCC | negative regulation of cysteine-type endopeptidase activity | 57/7958 | 86/18723 | 7.14e-06 | 8.47e-05 | 57 |
GO:00319291 | Liver | HCC | TOR signaling | 78/7958 | 126/18723 | 8.49e-06 | 9.97e-05 | 78 |
GO:200123712 | Liver | HCC | negative regulation of extrinsic apoptotic signaling pathway | 62/7958 | 97/18723 | 1.67e-05 | 1.81e-04 | 62 |
GO:004586122 | Liver | HCC | negative regulation of proteolysis | 186/7958 | 351/18723 | 4.19e-05 | 4.11e-04 | 186 |
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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 |
RFFL | SNV | Missense_Mutation | novel | c.293N>T | p.Arg98Leu | p.R98L | Q8WZ73 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-55-7907-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
RFFL | SNV | Missense_Mutation | novel | c.1032N>T | p.Met344Ile | p.M344I | Q8WZ73 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-86-7701-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | etoposide | PD |
RFFL | SNV | Missense_Mutation | rs778758723 | c.269N>T | p.Arg90Leu | p.R90L | Q8WZ73 | protein_coding | tolerated(0.41) | possibly_damaging(0.904) | TCGA-86-7701-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | etoposide | PD |
RFFL | SNV | Missense_Mutation | novel | c.689N>T | p.Glu230Val | p.E230V | Q8WZ73 | protein_coding | deleterious(0.04) | possibly_damaging(0.703) | TCGA-95-7562-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | SD |
RFFL | SNV | Missense_Mutation | c.104G>T | p.Ser35Ile | p.S35I | Q8WZ73 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-97-7938-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RFFL | SNV | Missense_Mutation | novel | c.502N>G | p.Ser168Gly | p.S168G | Q8WZ73 | protein_coding | tolerated(0.25) | benign(0) | TCGA-58-A46M-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RFFL | SNV | Missense_Mutation | novel | c.511N>A | p.Pro171Thr | p.P171T | Q8WZ73 | protein_coding | tolerated(0.58) | benign(0.007) | TCGA-BA-6868-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | carboplatin | PD |
RFFL | SNV | Missense_Mutation | novel | c.1047N>G | p.Ile349Met | p.I349M | Q8WZ73 | protein_coding | deleterious(0.02) | possibly_damaging(0.869) | TCGA-BB-A5HU-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | CR |
RFFL | SNV | Missense_Mutation | novel | c.157N>G | p.His53Asp | p.H53D | Q8WZ73 | protein_coding | tolerated(0.15) | possibly_damaging(0.451) | TCGA-CN-6023-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | erbitux | SD |
RFFL | SNV | Missense_Mutation | rs758936328 | c.1085N>A | p.Arg362Gln | p.R362Q | Q8WZ73 | protein_coding | deleterious(0.01) | possibly_damaging(0.856) | TCGA-CN-6024-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | 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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