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Gene: MCOLN1 |
Gene summary for MCOLN1 |
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Gene information | Species | Human | Gene symbol | MCOLN1 | Gene ID | 57192 |
Gene name | mucolipin TRP cation channel 1 | |
Gene Alias | MG-2 | |
Cytomap | 19p13.2 | |
Gene Type | protein-coding | GO ID | GO:0000041 | UniProtAcc | Q9GZU1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57192 | MCOLN1 | LP17 | Human | Oral cavity | LP | 3.50e-06 | 5.50e-01 | 0.2349 |
57192 | MCOLN1 | SYSMH3 | Human | Oral cavity | OSCC | 1.20e-13 | 3.78e-01 | 0.2442 |
57192 | MCOLN1 | SYSMH6 | Human | Oral cavity | OSCC | 3.90e-02 | 1.34e-01 | 0.1275 |
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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:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
GO:0022411111 | Esophagus | ESCC | cellular component disassembly | 305/8552 | 443/18723 | 1.94e-23 | 4.57e-21 | 305 |
GO:003298416 | Esophagus | ESCC | protein-containing complex disassembly | 151/8552 | 224/18723 | 3.45e-11 | 1.15e-09 | 151 |
GO:007121419 | Esophagus | ESCC | cellular response to abiotic stimulus | 206/8552 | 331/18723 | 7.52e-10 | 1.88e-08 | 206 |
GO:010400419 | Esophagus | ESCC | cellular response to environmental stimulus | 206/8552 | 331/18723 | 7.52e-10 | 1.88e-08 | 206 |
GO:0051235110 | Esophagus | ESCC | maintenance of location | 200/8552 | 327/18723 | 1.01e-08 | 2.02e-07 | 200 |
GO:00973523 | Esophagus | ESCC | autophagosome maturation | 31/8552 | 40/18723 | 4.04e-05 | 3.26e-04 | 31 |
GO:001003827 | Esophagus | ESCC | response to metal ion | 208/8552 | 373/18723 | 5.02e-05 | 3.90e-04 | 208 |
GO:0051651111 | Esophagus | ESCC | maintenance of location in cell | 126/8552 | 214/18723 | 6.57e-05 | 5.00e-04 | 126 |
GO:00512623 | Esophagus | ESCC | protein tetramerization | 54/8552 | 87/18723 | 1.50e-03 | 7.06e-03 | 54 |
GO:0090382 | Esophagus | ESCC | phagosome maturation | 19/8552 | 25/18723 | 2.03e-03 | 9.08e-03 | 19 |
GO:007124117 | Esophagus | ESCC | cellular response to inorganic substance | 125/8552 | 226/18723 | 2.17e-03 | 9.67e-03 | 125 |
GO:00512592 | Esophagus | ESCC | protein complex oligomerization | 130/8552 | 238/18723 | 3.29e-03 | 1.36e-02 | 130 |
GO:001623621 | Liver | HCC | macroautophagy | 204/7958 | 291/18723 | 8.66e-22 | 1.41e-19 | 204 |
GO:002241112 | Liver | HCC | cellular component disassembly | 282/7958 | 443/18723 | 1.02e-19 | 1.38e-17 | 282 |
GO:003298411 | Liver | HCC | protein-containing complex disassembly | 138/7958 | 224/18723 | 5.59e-09 | 1.46e-07 | 138 |
GO:001003822 | Liver | HCC | response to metal ion | 208/7958 | 373/18723 | 1.35e-07 | 2.56e-06 | 208 |
GO:005123521 | Liver | HCC | maintenance of location | 185/7958 | 327/18723 | 1.70e-07 | 3.12e-06 | 185 |
GO:007121421 | Liver | HCC | cellular response to abiotic stimulus | 183/7958 | 331/18723 | 1.59e-06 | 2.26e-05 | 183 |
GO:010400421 | Liver | HCC | cellular response to environmental stimulus | 183/7958 | 331/18723 | 1.59e-06 | 2.26e-05 | 183 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0414222 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
hsa0414232 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
hsa041422 | Liver | HCC | Lysosome | 100/4020 | 132/8465 | 2.32e-11 | 4.31e-10 | 2.40e-10 | 100 |
hsa041423 | Liver | HCC | Lysosome | 100/4020 | 132/8465 | 2.32e-11 | 4.31e-10 | 2.40e-10 | 100 |
hsa041425 | Oral cavity | OSCC | Lysosome | 87/3704 | 132/8465 | 1.97e-07 | 1.35e-06 | 6.86e-07 | 87 |
hsa0414212 | Oral cavity | OSCC | Lysosome | 87/3704 | 132/8465 | 1.97e-07 | 1.35e-06 | 6.86e-07 | 87 |
hsa0414221 | Oral cavity | LP | Lysosome | 67/2418 | 132/8465 | 5.13e-08 | 7.77e-07 | 5.01e-07 | 67 |
hsa0414231 | Oral cavity | LP | Lysosome | 67/2418 | 132/8465 | 5.13e-08 | 7.77e-07 | 5.01e-07 | 67 |
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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 |
MCOLN1 | SNV | Missense_Mutation | c.1711N>G | p.Pro571Ala | p.P571A | Q9GZU1 | protein_coding | tolerated(0.62) | benign(0) | TCGA-A2-A0D2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
MCOLN1 | SNV | Missense_Mutation | novel | c.1373N>T | p.Ser458Phe | p.S458F | Q9GZU1 | protein_coding | deleterious(0) | possibly_damaging(0.674) | TCGA-AC-A4ZE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCOLN1 | SNV | Missense_Mutation | c.103C>A | p.Pro35Thr | p.P35T | Q9GZU1 | protein_coding | tolerated(0.42) | benign(0.001) | TCGA-AO-A124-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
MCOLN1 | SNV | Missense_Mutation | c.1255C>T | p.Arg419Trp | p.R419W | Q9GZU1 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
MCOLN1 | SNV | Missense_Mutation | novel | c.1040G>T | p.Arg347Leu | p.R347L | Q9GZU1 | protein_coding | deleterious(0) | benign(0.382) | TCGA-AR-A1AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD |
MCOLN1 | SNV | Missense_Mutation | c.150N>A | p.Met50Ile | p.M50I | Q9GZU1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MCOLN1 | SNV | Missense_Mutation | novel | c.907N>T | p.Val303Leu | p.V303L | Q9GZU1 | protein_coding | tolerated(0.34) | benign(0.001) | TCGA-VS-A8QF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MCOLN1 | SNV | Missense_Mutation | rs760754683 | c.952C>T | p.Arg318Cys | p.R318C | Q9GZU1 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MCOLN1 | SNV | Missense_Mutation | rs368837514 | c.1013G>A | p.Arg338Gln | p.R338Q | Q9GZU1 | protein_coding | deleterious(0.03) | benign(0) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MCOLN1 | SNV | Missense_Mutation | rs760754683 | c.952N>T | p.Arg318Cys | p.R318C | Q9GZU1 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | 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 |
57192 | MCOLN1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | opioids | 31362332 | ||
57192 | MCOLN1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | activator | 178103003 | ||
57192 | MCOLN1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | activator | 178103002 | ||
57192 | MCOLN1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | activator | 178100233 | ||
57192 | MCOLN1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | activator | 354702256 | ||
57192 | MCOLN1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | activator | 178103005 |
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