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Gene: BLOC1S1 |
Gene summary for BLOC1S1 |
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Gene information | Species | Human | Gene symbol | BLOC1S1 | Gene ID | 2647 |
Gene name | biogenesis of lysosomal organelles complex 1 subunit 1 | |
Gene Alias | BLOS1 | |
Cytomap | 12q13.2 | |
Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | P78537 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2647 | BLOC1S1 | CA_HPV_1 | Human | Cervix | CC | 1.67e-07 | 6.24e-03 | 0.0264 |
2647 | BLOC1S1 | CA_HPV_3 | Human | Cervix | CC | 3.82e-02 | -4.80e-03 | 0.0414 |
2647 | BLOC1S1 | CCI_1 | Human | Cervix | CC | 8.54e-10 | -7.24e-01 | 0.528 |
2647 | BLOC1S1 | CCI_2 | Human | Cervix | CC | 5.82e-09 | -7.24e-01 | 0.5249 |
2647 | BLOC1S1 | CCI_3 | Human | Cervix | CC | 3.80e-13 | -7.24e-01 | 0.516 |
2647 | BLOC1S1 | CCII_1 | Human | Cervix | CC | 2.88e-18 | -7.24e-01 | 0.3249 |
2647 | BLOC1S1 | L1 | Human | Cervix | CC | 6.22e-03 | -2.83e-01 | 0.0802 |
2647 | BLOC1S1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 7.75e-24 | 5.61e-01 | -0.1808 |
2647 | BLOC1S1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 3.43e-08 | 2.76e-01 | -0.0811 |
2647 | BLOC1S1 | HTA11_78_2000001011 | Human | Colorectum | AD | 5.53e-03 | 1.22e-01 | -0.1088 |
2647 | BLOC1S1 | HTA11_347_2000001011 | Human | Colorectum | AD | 5.07e-27 | 4.83e-01 | -0.1954 |
2647 | BLOC1S1 | HTA11_411_2000001011 | Human | Colorectum | SER | 2.54e-19 | 1.02e+00 | -0.2602 |
2647 | BLOC1S1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 8.76e-08 | 5.07e-01 | -0.2196 |
2647 | BLOC1S1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 7.49e-10 | 3.19e-01 | -0.1207 |
2647 | BLOC1S1 | HTA11_83_2000001011 | Human | Colorectum | SER | 8.95e-14 | 4.54e-01 | -0.1526 |
2647 | BLOC1S1 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.80e-25 | 4.05e-01 | -0.1464 |
2647 | BLOC1S1 | HTA11_866_2000001011 | Human | Colorectum | AD | 8.44e-12 | 2.55e-01 | -0.1001 |
2647 | BLOC1S1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 5.65e-19 | 3.93e-01 | -0.059 |
2647 | BLOC1S1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 2.40e-13 | 4.85e-01 | -0.1706 |
2647 | BLOC1S1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.00e-07 | 3.63e-01 | -0.2061 |
Page: 1 2 3 4 5 6 7 8 9 10 11 |
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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:00090609 | Cervix | CC | aerobic respiration | 60/2311 | 189/18723 | 1.59e-12 | 6.36e-10 | 60 |
GO:00453339 | Cervix | CC | cellular respiration | 66/2311 | 230/18723 | 2.07e-11 | 5.39e-09 | 66 |
GO:00060919 | Cervix | CC | generation of precursor metabolites and energy | 105/2311 | 490/18723 | 7.40e-09 | 6.61e-07 | 105 |
GO:00159809 | Cervix | CC | energy derivation by oxidation of organic compounds | 74/2311 | 318/18723 | 3.83e-08 | 2.53e-06 | 74 |
GO:00516567 | Cervix | CC | establishment of organelle localization | 76/2311 | 390/18723 | 3.17e-05 | 5.21e-04 | 76 |
GO:00161977 | Cervix | CC | endosomal transport | 48/2311 | 230/18723 | 1.65e-04 | 1.97e-03 | 48 |
GO:00307057 | Cervix | CC | cytoskeleton-dependent intracellular transport | 40/2311 | 195/18723 | 7.92e-04 | 6.99e-03 | 40 |
GO:00160506 | Cervix | CC | vesicle organization | 54/2311 | 300/18723 | 2.71e-03 | 1.85e-02 | 54 |
GO:00080886 | Cervix | CC | axo-dendritic transport | 17/2311 | 75/18723 | 8.87e-03 | 4.53e-02 | 17 |
GO:00182054 | Cervix | CC | peptidyl-lysine modification | 62/2311 | 376/18723 | 1.04e-02 | 4.97e-02 | 62 |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0009060 | Colorectum | AD | aerobic respiration | 108/3918 | 189/18723 | 9.14e-28 | 1.43e-24 | 108 |
GO:0045333 | Colorectum | AD | cellular respiration | 119/3918 | 230/18723 | 3.21e-25 | 4.02e-22 | 119 |
GO:0015980 | Colorectum | AD | energy derivation by oxidation of organic compounds | 143/3918 | 318/18723 | 2.78e-22 | 2.49e-19 | 143 |
GO:0016197 | Colorectum | AD | endosomal transport | 90/3918 | 230/18723 | 1.88e-10 | 1.73e-08 | 90 |
GO:0051656 | Colorectum | AD | establishment of organelle localization | 131/3918 | 390/18723 | 3.00e-09 | 2.06e-07 | 131 |
GO:0016050 | Colorectum | AD | vesicle organization | 101/3918 | 300/18723 | 1.65e-07 | 7.17e-06 | 101 |
GO:0051650 | Colorectum | AD | establishment of vesicle localization | 57/3918 | 161/18723 | 1.47e-05 | 3.15e-04 | 57 |
GO:0051648 | Colorectum | AD | vesicle localization | 59/3918 | 177/18723 | 7.83e-05 | 1.25e-03 | 59 |
GO:0030705 | Colorectum | AD | cytoskeleton-dependent intracellular transport | 60/3918 | 195/18723 | 7.56e-04 | 7.59e-03 | 60 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 |
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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 |
BLOC1S1 | SNV | Missense_Mutation | c.421N>C | p.Glu141Gln | p.E141Q | P78537 | protein_coding | deleterious(0.04) | probably_damaging(0.969) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD | |
BLOC1S1 | SNV | Missense_Mutation | c.320G>A | p.Gly107Glu | p.G107E | P78537 | protein_coding | tolerated(0.18) | benign(0.355) | TCGA-E2-A1LG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
BLOC1S1 | SNV | Missense_Mutation | c.379N>T | p.Arg127Trp | p.R127W | P78537 | protein_coding | deleterious(0) | probably_damaging(0.912) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
BLOC1S1 | SNV | Missense_Mutation | novel | c.187A>G | p.Thr63Ala | p.T63A | P78537 | protein_coding | tolerated(0.07) | benign(0.045) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
BLOC1S1 | SNV | Missense_Mutation | c.188N>A | p.Thr63Lys | p.T63K | P78537 | protein_coding | deleterious(0) | possibly_damaging(0.81) | TCGA-D1-A15Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
BLOC1S1 | SNV | Missense_Mutation | novel | c.412A>T | p.Thr138Ser | p.T138S | P78537 | protein_coding | tolerated(0.47) | benign(0.056) | TCGA-CV-7245-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
BLOC1S1 | SNV | Missense_Mutation | novel | c.303G>C | p.Gln101His | p.Q101H | P78537 | protein_coding | deleterious(0.02) | probably_damaging(0.947) | TCGA-F7-A624-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BLOC1S1 | SNV | Missense_Mutation | c.276N>T | p.Gln92His | p.Q92H | P78537 | protein_coding | tolerated(0.27) | possibly_damaging(0.526) | TCGA-BR-6452-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
BLOC1S1 | SNV | Missense_Mutation | rs771492578 | c.400N>T | p.Arg134Cys | p.R134C | P78537 | protein_coding | tolerated(0.09) | benign(0.076) | TCGA-F1-6177-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BLOC1S1 | SNV | Missense_Mutation | novel | c.388N>A | p.Glu130Lys | p.E130K | P78537 | protein_coding | deleterious(0.02) | probably_damaging(0.956) | TCGA-R5-A805-01 | Stomach | stomach 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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