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Gene: RB1CC1 |
Gene summary for RB1CC1 |
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Gene information | Species | Human | Gene symbol | RB1CC1 | Gene ID | 9821 |
Gene name | RB1 inducible coiled-coil 1 | |
Gene Alias | ATG17 | |
Cytomap | 8q11.23 | |
Gene Type | protein-coding | GO ID | GO:0000045 | UniProtAcc | Q8TDY2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9821 | RB1CC1 | LZE2T | Human | Esophagus | ESCC | 8.71e-08 | 1.32e+00 | 0.082 |
9821 | RB1CC1 | LZE4T | Human | Esophagus | ESCC | 5.22e-30 | 1.22e+00 | 0.0811 |
9821 | RB1CC1 | LZE7T | Human | Esophagus | ESCC | 7.48e-04 | 4.47e-01 | 0.0667 |
9821 | RB1CC1 | LZE8T | Human | Esophagus | ESCC | 1.80e-10 | 4.12e-01 | 0.067 |
9821 | RB1CC1 | LZE20T | Human | Esophagus | ESCC | 4.15e-10 | 7.17e-01 | 0.0662 |
9821 | RB1CC1 | LZE22D1 | Human | Esophagus | HGIN | 2.09e-02 | -7.59e-02 | 0.0595 |
9821 | RB1CC1 | LZE22T | Human | Esophagus | ESCC | 2.57e-08 | 3.69e-01 | 0.068 |
9821 | RB1CC1 | LZE24D1 | Human | Esophagus | HGIN | 4.62e-02 | 4.39e-01 | 0.054 |
9821 | RB1CC1 | LZE24T | Human | Esophagus | ESCC | 2.10e-28 | 1.09e+00 | 0.0596 |
9821 | RB1CC1 | LZE21T | Human | Esophagus | ESCC | 1.54e-06 | 4.53e-01 | 0.0655 |
9821 | RB1CC1 | LZE6T | Human | Esophagus | ESCC | 1.87e-02 | 1.30e-01 | 0.0845 |
9821 | RB1CC1 | P1T-E | Human | Esophagus | ESCC | 3.48e-07 | 7.50e-01 | 0.0875 |
9821 | RB1CC1 | P2T-E | Human | Esophagus | ESCC | 2.32e-52 | 1.20e+00 | 0.1177 |
9821 | RB1CC1 | P4T-E | Human | Esophagus | ESCC | 6.64e-35 | 9.64e-01 | 0.1323 |
9821 | RB1CC1 | P5T-E | Human | Esophagus | ESCC | 4.15e-06 | 1.35e-01 | 0.1327 |
9821 | RB1CC1 | P8T-E | Human | Esophagus | ESCC | 5.31e-29 | 8.36e-01 | 0.0889 |
9821 | RB1CC1 | P9T-E | Human | Esophagus | ESCC | 3.89e-18 | 6.65e-01 | 0.1131 |
9821 | RB1CC1 | P10T-E | Human | Esophagus | ESCC | 2.52e-33 | 7.26e-01 | 0.116 |
9821 | RB1CC1 | P11T-E | Human | Esophagus | ESCC | 1.49e-18 | 9.54e-01 | 0.1426 |
9821 | RB1CC1 | P12T-E | Human | Esophagus | ESCC | 5.27e-70 | 1.80e+00 | 0.1122 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000609120 | Esophagus | HGIN | generation of precursor metabolites and energy | 145/2587 | 490/18723 | 3.41e-20 | 2.04e-17 | 145 |
GO:001598020 | Esophagus | HGIN | energy derivation by oxidation of organic compounds | 105/2587 | 318/18723 | 1.16e-18 | 4.99e-16 | 105 |
GO:200123327 | Esophagus | HGIN | regulation of apoptotic signaling pathway | 97/2587 | 356/18723 | 1.36e-11 | 1.57e-09 | 97 |
GO:001623616 | Esophagus | HGIN | macroautophagy | 77/2587 | 291/18723 | 7.15e-09 | 4.61e-07 | 77 |
GO:002241120 | Esophagus | HGIN | cellular component disassembly | 102/2587 | 443/18723 | 8.31e-08 | 4.33e-06 | 102 |
GO:200123427 | Esophagus | HGIN | negative regulation of apoptotic signaling pathway | 59/2587 | 224/18723 | 4.68e-07 | 2.07e-05 | 59 |
GO:19030089 | Esophagus | HGIN | organelle disassembly | 36/2587 | 114/18723 | 8.60e-07 | 3.58e-05 | 36 |
GO:009719126 | Esophagus | HGIN | extrinsic apoptotic signaling pathway | 56/2587 | 219/18723 | 2.48e-06 | 8.80e-05 | 56 |
GO:000042216 | Esophagus | HGIN | autophagy of mitochondrion | 25/2587 | 81/18723 | 5.95e-05 | 1.38e-03 | 25 |
GO:006172616 | Esophagus | HGIN | mitochondrion disassembly | 25/2587 | 81/18723 | 5.95e-05 | 1.38e-03 | 25 |
GO:00070336 | Esophagus | HGIN | vacuole organization | 44/2587 | 180/18723 | 8.97e-05 | 1.96e-03 | 44 |
GO:004873225 | Esophagus | HGIN | gland development | 88/2587 | 436/18723 | 1.34e-04 | 2.71e-03 | 88 |
GO:19050375 | Esophagus | HGIN | autophagosome organization | 28/2587 | 103/18723 | 2.58e-04 | 4.53e-03 | 28 |
GO:006100820 | Esophagus | HGIN | hepaticobiliary system development | 37/2587 | 150/18723 | 2.58e-04 | 4.53e-03 | 37 |
GO:000188920 | Esophagus | HGIN | liver development | 36/2587 | 147/18723 | 3.61e-04 | 5.68e-03 | 36 |
GO:200123626 | Esophagus | HGIN | regulation of extrinsic apoptotic signaling pathway | 36/2587 | 151/18723 | 6.20e-04 | 8.58e-03 | 36 |
GO:00000455 | Esophagus | HGIN | autophagosome assembly | 26/2587 | 99/18723 | 7.45e-04 | 9.90e-03 | 26 |
GO:00619128 | Esophagus | HGIN | selective autophagy | 19/2587 | 68/18723 | 1.68e-03 | 1.85e-02 | 19 |
GO:200123725 | Esophagus | HGIN | negative regulation of extrinsic apoptotic signaling pathway | 23/2587 | 97/18723 | 5.91e-03 | 4.78e-02 | 23 |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501038 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0414015 | Esophagus | ESCC | Autophagy - animal | 101/4205 | 141/8465 | 7.60e-08 | 6.21e-07 | 3.18e-07 | 101 |
hsa0501736 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0421115 | Esophagus | ESCC | Longevity regulating pathway | 58/4205 | 89/8465 | 2.19e-03 | 6.16e-03 | 3.16e-03 | 58 |
hsa0501614 | Liver | Cirrhotic | Huntington disease | 172/2530 | 306/8465 | 1.65e-22 | 1.10e-20 | 6.77e-21 | 172 |
hsa0501414 | Liver | Cirrhotic | Amyotrophic lateral sclerosis | 187/2530 | 364/8465 | 1.56e-18 | 6.50e-17 | 4.01e-17 | 187 |
hsa0502214 | Liver | Cirrhotic | Pathways of neurodegeneration - multiple diseases | 217/2530 | 476/8465 | 7.30e-14 | 2.03e-12 | 1.25e-12 | 217 |
hsa0501014 | Liver | Cirrhotic | Alzheimer disease | 180/2530 | 384/8465 | 5.52e-13 | 1.36e-11 | 8.36e-12 | 180 |
hsa0501710 | Liver | Cirrhotic | Spinocerebellar ataxia | 66/2530 | 143/8465 | 2.58e-05 | 2.15e-04 | 1.32e-04 | 66 |
hsa041406 | Liver | Cirrhotic | Autophagy - animal | 65/2530 | 141/8465 | 3.10e-05 | 2.47e-04 | 1.52e-04 | 65 |
hsa042118 | Liver | Cirrhotic | Longevity regulating pathway | 37/2530 | 89/8465 | 1.22e-02 | 3.89e-02 | 2.40e-02 | 37 |
hsa0501615 | Liver | Cirrhotic | Huntington disease | 172/2530 | 306/8465 | 1.65e-22 | 1.10e-20 | 6.77e-21 | 172 |
hsa0501415 | Liver | Cirrhotic | Amyotrophic lateral sclerosis | 187/2530 | 364/8465 | 1.56e-18 | 6.50e-17 | 4.01e-17 | 187 |
hsa0502215 | Liver | Cirrhotic | Pathways of neurodegeneration - multiple diseases | 217/2530 | 476/8465 | 7.30e-14 | 2.03e-12 | 1.25e-12 | 217 |
hsa0501015 | Liver | Cirrhotic | Alzheimer disease | 180/2530 | 384/8465 | 5.52e-13 | 1.36e-11 | 8.36e-12 | 180 |
hsa0501711 | Liver | Cirrhotic | Spinocerebellar ataxia | 66/2530 | 143/8465 | 2.58e-05 | 2.15e-04 | 1.32e-04 | 66 |
hsa0414011 | Liver | Cirrhotic | Autophagy - animal | 65/2530 | 141/8465 | 3.10e-05 | 2.47e-04 | 1.52e-04 | 65 |
hsa0421111 | Liver | Cirrhotic | Longevity regulating pathway | 37/2530 | 89/8465 | 1.22e-02 | 3.89e-02 | 2.40e-02 | 37 |
hsa0501622 | Liver | HCC | Huntington disease | 219/4020 | 306/8465 | 3.06e-18 | 3.42e-16 | 1.90e-16 | 219 |
hsa0501422 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
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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 |
RB1CC1 | SNV | Missense_Mutation | novel | c.1784N>A | p.Pro595Gln | p.P595Q | Q8TDY2 | protein_coding | deleterious(0.04) | possibly_damaging(0.832) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
RB1CC1 | SNV | Missense_Mutation | novel | c.3995N>G | p.Phe1332Cys | p.F1332C | Q8TDY2 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RB1CC1 | SNV | Missense_Mutation | c.3428N>T | p.Arg1143Ile | p.R1143I | Q8TDY2 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.888) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RB1CC1 | SNV | Missense_Mutation | novel | c.1511N>C | p.Val504Ala | p.V504A | Q8TDY2 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-B6-A0RS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
RB1CC1 | SNV | Missense_Mutation | c.3922G>A | p.Glu1308Lys | p.E1308K | Q8TDY2 | protein_coding | tolerated(0.81) | benign(0.212) | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
RB1CC1 | SNV | Missense_Mutation | c.4472G>A | p.Arg1491Lys | p.R1491K | Q8TDY2 | protein_coding | deleterious(0.02) | probably_damaging(0.979) | TCGA-BH-A0GZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | |
RB1CC1 | SNV | Missense_Mutation | rs145052579 | c.992N>T | p.Ser331Phe | p.S331F | Q8TDY2 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
RB1CC1 | SNV | Missense_Mutation | novel | c.1036N>A | p.Glu346Lys | p.E346K | Q8TDY2 | protein_coding | deleterious(0) | benign(0.073) | TCGA-D8-A1JE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamicin | SD |
RB1CC1 | SNV | Missense_Mutation | c.983G>T | p.Cys328Phe | p.C328F | Q8TDY2 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D8-A1JH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | nolvadex | SD | |
RB1CC1 | SNV | Missense_Mutation | c.629N>A | p.Arg210Lys | p.R210K | Q8TDY2 | protein_coding | deleterious(0.03) | benign(0.437) | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | 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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