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Gene: RBCK1 |
Gene summary for RBCK1 |
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Gene information | Species | Human | Gene symbol | RBCK1 | Gene ID | 10616 |
Gene name | RANBP2-type and C3HC4-type zinc finger containing 1 | |
Gene Alias | C20orf18 | |
Cytomap | 20p13 | |
Gene Type | protein-coding | GO ID | GO:0000209 | UniProtAcc | A6PVK0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10616 | RBCK1 | P32T-E | Human | Esophagus | ESCC | 1.07e-50 | 1.05e+00 | 0.1666 |
10616 | RBCK1 | P36T-E | Human | Esophagus | ESCC | 1.57e-37 | 1.91e+00 | 0.1187 |
10616 | RBCK1 | P37T-E | Human | Esophagus | ESCC | 1.09e-44 | 1.14e+00 | 0.1371 |
10616 | RBCK1 | P38T-E | Human | Esophagus | ESCC | 9.62e-15 | 7.09e-01 | 0.127 |
10616 | RBCK1 | P39T-E | Human | Esophagus | ESCC | 1.66e-26 | 5.97e-01 | 0.0894 |
10616 | RBCK1 | P40T-E | Human | Esophagus | ESCC | 2.04e-31 | 1.26e+00 | 0.109 |
10616 | RBCK1 | P42T-E | Human | Esophagus | ESCC | 3.46e-26 | 7.85e-01 | 0.1175 |
10616 | RBCK1 | P44T-E | Human | Esophagus | ESCC | 3.30e-20 | 6.21e-01 | 0.1096 |
10616 | RBCK1 | P47T-E | Human | Esophagus | ESCC | 9.02e-53 | 1.08e+00 | 0.1067 |
10616 | RBCK1 | P48T-E | Human | Esophagus | ESCC | 1.20e-40 | 8.16e-01 | 0.0959 |
10616 | RBCK1 | P49T-E | Human | Esophagus | ESCC | 7.84e-22 | 2.18e+00 | 0.1768 |
10616 | RBCK1 | P52T-E | Human | Esophagus | ESCC | 1.13e-75 | 1.60e+00 | 0.1555 |
10616 | RBCK1 | P54T-E | Human | Esophagus | ESCC | 1.53e-31 | 1.01e+00 | 0.0975 |
10616 | RBCK1 | P56T-E | Human | Esophagus | ESCC | 3.46e-13 | 2.76e+00 | 0.1613 |
10616 | RBCK1 | P57T-E | Human | Esophagus | ESCC | 1.12e-48 | 9.27e-01 | 0.0926 |
10616 | RBCK1 | P61T-E | Human | Esophagus | ESCC | 1.28e-38 | 1.05e+00 | 0.099 |
10616 | RBCK1 | P62T-E | Human | Esophagus | ESCC | 3.05e-89 | 1.86e+00 | 0.1302 |
10616 | RBCK1 | P65T-E | Human | Esophagus | ESCC | 1.52e-63 | 1.42e+00 | 0.0978 |
10616 | RBCK1 | P74T-E | Human | Esophagus | ESCC | 1.60e-35 | 1.17e+00 | 0.1479 |
10616 | RBCK1 | P75T-E | Human | Esophagus | ESCC | 2.05e-101 | 2.13e+00 | 0.1125 |
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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:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
GO:00104989 | Breast | Precancer | proteasomal protein catabolic process | 58/1080 | 490/18723 | 1.54e-07 | 8.05e-06 | 58 |
GO:20012356 | Breast | Precancer | positive regulation of apoptotic signaling pathway | 24/1080 | 126/18723 | 1.98e-07 | 1.01e-05 | 24 |
GO:20012369 | Breast | Precancer | regulation of extrinsic apoptotic signaling pathway | 24/1080 | 151/18723 | 5.78e-06 | 1.70e-04 | 24 |
GO:00971919 | Breast | Precancer | extrinsic apoptotic signaling pathway | 30/1080 | 219/18723 | 9.42e-06 | 2.50e-04 | 30 |
GO:00431619 | Breast | Precancer | proteasome-mediated ubiquitin-dependent protein catabolic process | 42/1080 | 412/18723 | 2.49e-04 | 3.72e-03 | 42 |
GO:0010939 | Breast | Precancer | regulation of necrotic cell death | 9/1080 | 42/18723 | 5.42e-04 | 6.97e-03 | 9 |
GO:0070265 | Breast | Precancer | necrotic cell death | 11/1080 | 62/18723 | 7.54e-04 | 9.01e-03 | 11 |
GO:00508523 | Breast | Precancer | T cell receptor signaling pathway | 15/1080 | 123/18723 | 4.80e-03 | 3.64e-02 | 15 |
GO:00072496 | Breast | Precancer | I-kappaB kinase/NF-kappaB signaling | 27/1080 | 281/18723 | 6.58e-03 | 4.53e-02 | 27 |
GO:200123314 | Breast | IDC | regulation of apoptotic signaling pathway | 82/1434 | 356/18723 | 6.27e-20 | 5.93e-17 | 82 |
GO:200123514 | Breast | IDC | positive regulation of apoptotic signaling pathway | 31/1434 | 126/18723 | 4.13e-09 | 3.35e-07 | 31 |
GO:001049814 | Breast | IDC | proteasomal protein catabolic process | 75/1434 | 490/18723 | 5.59e-09 | 4.41e-07 | 75 |
GO:009719114 | Breast | IDC | extrinsic apoptotic signaling pathway | 42/1434 | 219/18723 | 2.56e-08 | 1.73e-06 | 42 |
GO:200123614 | Breast | IDC | regulation of extrinsic apoptotic signaling pathway | 32/1434 | 151/18723 | 1.07e-07 | 6.26e-06 | 32 |
GO:004316114 | Breast | IDC | proteasome-mediated ubiquitin-dependent protein catabolic process | 57/1434 | 412/18723 | 9.55e-06 | 2.68e-04 | 57 |
GO:20012385 | Breast | IDC | positive regulation of extrinsic apoptotic signaling pathway | 12/1434 | 48/18723 | 2.03e-04 | 3.32e-03 | 12 |
GO:00431227 | Breast | IDC | regulation of I-kappaB kinase/NF-kappaB signaling | 34/1434 | 249/18723 | 7.18e-04 | 8.77e-03 | 34 |
GO:000724914 | Breast | IDC | I-kappaB kinase/NF-kappaB signaling | 37/1434 | 281/18723 | 8.58e-04 | 9.98e-03 | 37 |
GO:00508521 | Breast | IDC | T cell receptor signaling pathway | 20/1434 | 123/18723 | 1.05e-03 | 1.16e-02 | 20 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0513124 | Breast | IDC | Shigellosis | 47/867 | 247/8465 | 1.78e-05 | 2.00e-04 | 1.49e-04 | 47 |
hsa0513134 | Breast | IDC | Shigellosis | 47/867 | 247/8465 | 1.78e-05 | 2.00e-04 | 1.49e-04 | 47 |
hsa0513144 | Breast | DCIS | Shigellosis | 46/846 | 247/8465 | 2.06e-05 | 2.38e-04 | 1.75e-04 | 46 |
hsa0513154 | Breast | DCIS | Shigellosis | 46/846 | 247/8465 | 2.06e-05 | 2.38e-04 | 1.75e-04 | 46 |
hsa05131 | Colorectum | AD | Shigellosis | 109/2092 | 247/8465 | 1.09e-11 | 2.44e-10 | 1.55e-10 | 109 |
hsa051311 | Colorectum | AD | Shigellosis | 109/2092 | 247/8465 | 1.09e-11 | 2.44e-10 | 1.55e-10 | 109 |
hsa051312 | Colorectum | SER | Shigellosis | 87/1580 | 247/8465 | 3.07e-10 | 7.27e-09 | 5.28e-09 | 87 |
hsa04217 | Colorectum | SER | Necroptosis | 47/1580 | 159/8465 | 5.21e-04 | 4.44e-03 | 3.22e-03 | 47 |
hsa051313 | Colorectum | SER | Shigellosis | 87/1580 | 247/8465 | 3.07e-10 | 7.27e-09 | 5.28e-09 | 87 |
hsa042171 | Colorectum | SER | Necroptosis | 47/1580 | 159/8465 | 5.21e-04 | 4.44e-03 | 3.22e-03 | 47 |
hsa051314 | Colorectum | MSS | Shigellosis | 94/1875 | 247/8465 | 6.82e-09 | 1.34e-07 | 8.23e-08 | 94 |
hsa051315 | Colorectum | MSS | Shigellosis | 94/1875 | 247/8465 | 6.82e-09 | 1.34e-07 | 8.23e-08 | 94 |
hsa051318 | Colorectum | FAP | Shigellosis | 76/1404 | 247/8465 | 1.57e-08 | 5.84e-07 | 3.55e-07 | 76 |
hsa051319 | Colorectum | FAP | Shigellosis | 76/1404 | 247/8465 | 1.57e-08 | 5.84e-07 | 3.55e-07 | 76 |
hsa0513139 | Esophagus | HGIN | Shigellosis | 71/1383 | 247/8465 | 4.89e-07 | 7.98e-06 | 6.34e-06 | 71 |
hsa046219 | Esophagus | HGIN | NOD-like receptor signaling pathway | 45/1383 | 186/8465 | 3.40e-03 | 2.54e-02 | 2.02e-02 | 45 |
hsa05131114 | Esophagus | HGIN | Shigellosis | 71/1383 | 247/8465 | 4.89e-07 | 7.98e-06 | 6.34e-06 | 71 |
hsa0462114 | Esophagus | HGIN | NOD-like receptor signaling pathway | 45/1383 | 186/8465 | 3.40e-03 | 2.54e-02 | 2.02e-02 | 45 |
hsa05131211 | Esophagus | ESCC | Shigellosis | 176/4205 | 247/8465 | 2.27e-12 | 4.01e-11 | 2.05e-11 | 176 |
hsa0462122 | Esophagus | ESCC | NOD-like receptor signaling pathway | 116/4205 | 186/8465 | 2.90e-04 | 1.03e-03 | 5.30e-04 | 116 |
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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 |
RBCK1 | SNV | Missense_Mutation | novel | c.1515C>G | p.Ser505Arg | p.S505R | Q9BYM8 | protein_coding | tolerated(0.61) | benign(0.022) | TCGA-C5-A1M6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
RBCK1 | SNV | Missense_Mutation | novel | c.538G>A | p.Glu180Lys | p.E180K | Q9BYM8 | protein_coding | tolerated(0.68) | benign(0.007) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
RBCK1 | SNV | Missense_Mutation | rs752153553 | c.317G>A | p.Arg106Gln | p.R106Q | Q9BYM8 | protein_coding | tolerated(0.34) | benign(0.321) | TCGA-A6-6782-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
RBCK1 | SNV | Missense_Mutation | novel | c.1481G>A | p.Arg494His | p.R494H | Q9BYM8 | protein_coding | deleterious(0) | possibly_damaging(0.644) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
RBCK1 | SNV | Missense_Mutation | c.386N>G | p.Tyr129Cys | p.Y129C | Q9BYM8 | protein_coding | deleterious(0) | possibly_damaging(0.87) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
RBCK1 | SNV | Missense_Mutation | rs139191851 | c.401N>A | p.Arg134His | p.R134H | Q9BYM8 | protein_coding | tolerated(0.62) | benign(0) | TCGA-CM-4746-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RBCK1 | SNV | Missense_Mutation | c.769C>G | p.Gln257Glu | p.Q257E | Q9BYM8 | protein_coding | tolerated(1) | benign(0) | TCGA-CM-6172-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Ancillary | leucovorin | SD | |
RBCK1 | SNV | Missense_Mutation | c.544N>A | p.Gly182Arg | p.G182R | Q9BYM8 | protein_coding | tolerated(0.51) | benign(0.046) | TCGA-DM-A28C-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
RBCK1 | SNV | Missense_Mutation | novel | c.374N>A | p.Ser125Asn | p.S125N | Q9BYM8 | protein_coding | tolerated(0.21) | benign(0.015) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RBCK1 | SNV | Missense_Mutation | rs760689114 | c.1292C>T | p.Thr431Met | p.T431M | Q9BYM8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A0VP-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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