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Gene: CLN3 |
Gene summary for CLN3 |
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Gene information | Species | Human | Gene symbol | CLN3 | Gene ID | 1201 |
Gene name | CLN3 lysosomal/endosomal transmembrane protein, battenin | |
Gene Alias | BTN1 | |
Cytomap | 16p12.1 | |
Gene Type | protein-coding | GO ID | GO:0000820 | UniProtAcc | A0A024QZB8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1201 | CLN3 | LZE2T | Human | Esophagus | ESCC | 2.18e-04 | 4.66e-01 | 0.082 |
1201 | CLN3 | LZE4T | Human | Esophagus | ESCC | 1.55e-10 | 3.08e-01 | 0.0811 |
1201 | CLN3 | LZE5T | Human | Esophagus | ESCC | 1.40e-06 | 4.90e-01 | 0.0514 |
1201 | CLN3 | LZE7T | Human | Esophagus | ESCC | 2.07e-09 | 3.99e-01 | 0.0667 |
1201 | CLN3 | LZE8T | Human | Esophagus | ESCC | 1.08e-12 | 3.57e-01 | 0.067 |
1201 | CLN3 | LZE20T | Human | Esophagus | ESCC | 6.75e-22 | 5.34e-01 | 0.0662 |
1201 | CLN3 | LZE22D1 | Human | Esophagus | HGIN | 3.26e-02 | 1.82e-01 | 0.0595 |
1201 | CLN3 | LZE22T | Human | Esophagus | ESCC | 1.28e-07 | 4.66e-01 | 0.068 |
1201 | CLN3 | LZE24T | Human | Esophagus | ESCC | 1.36e-45 | 1.19e+00 | 0.0596 |
1201 | CLN3 | LZE22D3 | Human | Esophagus | HGIN | 1.73e-02 | 3.63e-01 | 0.0653 |
1201 | CLN3 | LZE21T | Human | Esophagus | ESCC | 1.37e-06 | 3.44e-01 | 0.0655 |
1201 | CLN3 | LZE6T | Human | Esophagus | ESCC | 2.96e-03 | 1.72e-01 | 0.0845 |
1201 | CLN3 | P1T-E | Human | Esophagus | ESCC | 1.94e-26 | 1.01e+00 | 0.0875 |
1201 | CLN3 | P2T-E | Human | Esophagus | ESCC | 1.67e-63 | 9.21e-01 | 0.1177 |
1201 | CLN3 | P4T-E | Human | Esophagus | ESCC | 3.07e-68 | 1.29e+00 | 0.1323 |
1201 | CLN3 | P5T-E | Human | Esophagus | ESCC | 2.86e-20 | 3.54e-01 | 0.1327 |
1201 | CLN3 | P8T-E | Human | Esophagus | ESCC | 6.89e-44 | 7.34e-01 | 0.0889 |
1201 | CLN3 | P9T-E | Human | Esophagus | ESCC | 5.74e-10 | 2.28e-01 | 0.1131 |
1201 | CLN3 | P10T-E | Human | Esophagus | ESCC | 6.56e-15 | 3.12e-01 | 0.116 |
1201 | CLN3 | P11T-E | Human | Esophagus | ESCC | 2.88e-23 | 6.84e-01 | 0.1426 |
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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:001050610 | Oral cavity | OSCC | regulation of autophagy | 198/7305 | 317/18723 | 1.63e-17 | 1.51e-15 | 198 |
GO:00160508 | Oral cavity | OSCC | vesicle organization | 189/7305 | 300/18723 | 2.40e-17 | 2.14e-15 | 189 |
GO:190495119 | Oral cavity | OSCC | positive regulation of establishment of protein localization | 196/7305 | 319/18723 | 2.89e-16 | 2.20e-14 | 196 |
GO:006219720 | Oral cavity | OSCC | cellular response to chemical stress | 204/7305 | 337/18723 | 6.89e-16 | 5.19e-14 | 204 |
GO:005122219 | Oral cavity | OSCC | positive regulation of protein transport | 187/7305 | 303/18723 | 7.37e-16 | 5.49e-14 | 187 |
GO:009015018 | Oral cavity | OSCC | establishment of protein localization to membrane | 163/7305 | 260/18723 | 7.13e-15 | 4.47e-13 | 163 |
GO:007265918 | Oral cavity | OSCC | protein localization to plasma membrane | 169/7305 | 284/18723 | 1.69e-12 | 7.21e-11 | 169 |
GO:00162417 | Oral cavity | OSCC | regulation of macroautophagy | 96/7305 | 141/18723 | 2.33e-12 | 9.75e-11 | 96 |
GO:00070335 | Oral cavity | OSCC | vacuole organization | 115/7305 | 180/18723 | 1.11e-11 | 4.00e-10 | 115 |
GO:000703410 | Oral cavity | OSCC | vacuolar transport | 103/7305 | 157/18723 | 1.25e-11 | 4.44e-10 | 103 |
GO:199077816 | Oral cavity | OSCC | protein localization to cell periphery | 190/7305 | 333/18723 | 1.46e-11 | 5.13e-10 | 190 |
GO:003298410 | Oral cavity | OSCC | protein-containing complex disassembly | 136/7305 | 224/18723 | 3.42e-11 | 1.13e-09 | 136 |
GO:007099720 | Oral cavity | OSCC | neuron death | 202/7305 | 361/18723 | 3.75e-11 | 1.23e-09 | 202 |
GO:005160410 | Oral cavity | OSCC | protein maturation | 170/7305 | 294/18723 | 3.97e-11 | 1.28e-09 | 170 |
GO:007121416 | Oral cavity | OSCC | cellular response to abiotic stimulus | 186/7305 | 331/18723 | 1.38e-10 | 4.10e-09 | 186 |
GO:010400416 | Oral cavity | OSCC | cellular response to environmental stimulus | 186/7305 | 331/18723 | 1.38e-10 | 4.10e-09 | 186 |
GO:00164829 | Oral cavity | OSCC | cytosolic transport | 106/7305 | 168/18723 | 2.08e-10 | 5.90e-09 | 106 |
GO:00516509 | Oral cavity | OSCC | establishment of vesicle localization | 101/7305 | 161/18723 | 8.79e-10 | 2.17e-08 | 101 |
GO:00068929 | Oral cavity | OSCC | post-Golgi vesicle-mediated transport | 71/7305 | 104/18723 | 1.37e-09 | 3.33e-08 | 71 |
GO:190121420 | Oral cavity | OSCC | regulation of neuron death | 174/7305 | 319/18723 | 1.09e-08 | 2.23e-07 | 174 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa041426 | Esophagus | HGIN | Lysosome | 33/1383 | 132/8465 | 6.65e-03 | 4.37e-02 | 3.47e-02 | 33 |
hsa0414213 | Esophagus | HGIN | Lysosome | 33/1383 | 132/8465 | 6.65e-03 | 4.37e-02 | 3.47e-02 | 33 |
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 |
hsa041424 | Liver | Cirrhotic | Lysosome | 68/2530 | 132/8465 | 1.34e-07 | 1.97e-06 | 1.21e-06 | 68 |
hsa0414211 | Liver | Cirrhotic | Lysosome | 68/2530 | 132/8465 | 1.34e-07 | 1.97e-06 | 1.21e-06 | 68 |
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 |
CLN3 | SNV | Missense_Mutation | novel | c.825N>T | p.Trp275Cys | p.W275C | Q13286 | protein_coding | tolerated(0.12) | possibly_damaging(0.726) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
CLN3 | SNV | Missense_Mutation | rs772851701 | c.181G>A | p.Asp61Asn | p.D61N | Q13286 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0YD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CLN3 | SNV | Missense_Mutation | c.898N>G | p.Gln300Glu | p.Q300E | Q13286 | protein_coding | deleterious(0) | possibly_damaging(0.642) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
CLN3 | SNV | Missense_Mutation | c.358N>T | p.His120Tyr | p.H120Y | Q13286 | protein_coding | tolerated(0.07) | probably_damaging(0.946) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
CLN3 | SNV | Missense_Mutation | rs775999656 | c.239C>T | p.Thr80Met | p.T80M | Q13286 | protein_coding | tolerated(0.11) | possibly_damaging(0.596) | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CLN3 | insertion | Frame_Shift_Ins | novel | c.379dupC | p.Arg127ProfsTer33 | p.R127Pfs*33 | Q13286 | protein_coding | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | ||
CLN3 | SNV | Missense_Mutation | rs768614719 | c.1159G>A | p.Ala387Thr | p.A387T | Q13286 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CLN3 | SNV | Missense_Mutation | c.14C>T | p.Ala5Val | p.A5V | Q13286 | protein_coding | deleterious_low_confidence(0.01) | benign(0.321) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
CLN3 | SNV | Missense_Mutation | c.512C>T | p.Ser171Phe | p.S171F | Q13286 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
CLN3 | SNV | Missense_Mutation | rs369801432 | c.1229N>T | p.Ala410Val | p.A410V | Q13286 | protein_coding | deleterious(0.02) | possibly_damaging(0.623) | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <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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