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Gene: OPTN |
Gene summary for OPTN |
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Gene information | Species | Human | Gene symbol | OPTN | Gene ID | 10133 |
Gene name | optineurin | |
Gene Alias | ALS12 | |
Cytomap | 10p13 | |
Gene Type | protein-coding | GO ID | GO:0000422 | UniProtAcc | Q96CV9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10133 | OPTN | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.43e-07 | 5.95e-01 | -0.1808 |
10133 | OPTN | HTA11_1938_2000001011 | Human | Colorectum | AD | 6.11e-10 | 5.25e-01 | -0.0811 |
10133 | OPTN | HTA11_78_2000001011 | Human | Colorectum | AD | 1.53e-03 | 3.34e-01 | -0.1088 |
10133 | OPTN | HTA11_347_2000001011 | Human | Colorectum | AD | 3.11e-18 | 5.76e-01 | -0.1954 |
10133 | OPTN | HTA11_411_2000001011 | Human | Colorectum | SER | 4.96e-09 | 1.33e+00 | -0.2602 |
10133 | OPTN | HTA11_2112_2000001011 | Human | Colorectum | SER | 5.24e-08 | 9.52e-01 | -0.2196 |
10133 | OPTN | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.08e-03 | 3.26e-01 | -0.1207 |
10133 | OPTN | HTA11_696_2000001011 | Human | Colorectum | AD | 6.66e-08 | 4.46e-01 | -0.1464 |
10133 | OPTN | HTA11_866_2000001011 | Human | Colorectum | AD | 3.61e-07 | 3.08e-01 | -0.1001 |
10133 | OPTN | HTA11_1391_2000001011 | Human | Colorectum | AD | 4.49e-07 | 3.66e-01 | -0.059 |
10133 | OPTN | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.63e-05 | 6.25e-01 | -0.1706 |
10133 | OPTN | HTA11_99999970781_79442 | Human | Colorectum | MSS | 6.46e-08 | 3.61e-01 | 0.294 |
10133 | OPTN | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 9.37e-03 | 8.78e-01 | 0.3487 |
10133 | OPTN | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.13e-08 | 3.97e-01 | 0.3859 |
10133 | OPTN | LZE4T | Human | Esophagus | ESCC | 2.76e-10 | 4.61e-01 | 0.0811 |
10133 | OPTN | LZE7T | Human | Esophagus | ESCC | 3.99e-04 | 2.46e-01 | 0.0667 |
10133 | OPTN | LZE8T | Human | Esophagus | ESCC | 1.86e-07 | 2.48e-01 | 0.067 |
10133 | OPTN | LZE20T | Human | Esophagus | ESCC | 2.91e-07 | 1.24e-01 | 0.0662 |
10133 | OPTN | LZE22D1 | Human | Esophagus | HGIN | 1.48e-03 | -4.74e-02 | 0.0595 |
10133 | OPTN | LZE22T | Human | Esophagus | ESCC | 9.46e-09 | 4.54e-01 | 0.068 |
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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:0007249111 | Thyroid | ATC | I-kappaB kinase/NF-kappaB signaling | 135/6293 | 281/18723 | 3.31e-07 | 4.91e-06 | 135 |
GO:000703015 | Thyroid | ATC | Golgi organization | 79/6293 | 157/18723 | 1.07e-05 | 1.05e-04 | 79 |
GO:004311224 | Thyroid | ATC | receptor metabolic process | 82/6293 | 166/18723 | 1.78e-05 | 1.63e-04 | 82 |
GO:003406714 | Thyroid | ATC | protein localization to Golgi apparatus | 21/6293 | 29/18723 | 2.21e-05 | 1.96e-04 | 21 |
GO:001623912 | Thyroid | ATC | positive regulation of macroautophagy | 37/6293 | 63/18723 | 3.73e-05 | 3.05e-04 | 37 |
GO:000283123 | Thyroid | ATC | regulation of response to biotic stimulus | 144/6293 | 327/18723 | 4.94e-05 | 3.91e-04 | 144 |
GO:006191216 | Thyroid | ATC | selective autophagy | 38/6293 | 68/18723 | 1.30e-04 | 9.17e-04 | 38 |
GO:003210324 | Thyroid | ATC | positive regulation of response to external stimulus | 178/6293 | 427/18723 | 2.61e-04 | 1.67e-03 | 178 |
GO:000042316 | Thyroid | ATC | mitophagy | 17/6293 | 28/18723 | 2.97e-03 | 1.35e-02 | 17 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05014 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa04137 | Colorectum | AD | Mitophagy - animal | 29/2092 | 72/8465 | 2.49e-03 | 1.35e-02 | 8.59e-03 | 29 |
hsa050141 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa041371 | Colorectum | AD | Mitophagy - animal | 29/2092 | 72/8465 | 2.49e-03 | 1.35e-02 | 8.59e-03 | 29 |
hsa050222 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa050142 | Colorectum | SER | Amyotrophic lateral sclerosis | 138/1580 | 364/8465 | 9.89e-19 | 2.99e-17 | 2.17e-17 | 138 |
hsa041372 | Colorectum | SER | Mitophagy - animal | 22/1580 | 72/8465 | 9.93e-03 | 4.78e-02 | 3.47e-02 | 22 |
hsa050223 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa050143 | Colorectum | SER | Amyotrophic lateral sclerosis | 138/1580 | 364/8465 | 9.89e-19 | 2.99e-17 | 2.17e-17 | 138 |
hsa041373 | Colorectum | SER | Mitophagy - animal | 22/1580 | 72/8465 | 9.93e-03 | 4.78e-02 | 3.47e-02 | 22 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa050144 | Colorectum | MSS | Amyotrophic lateral sclerosis | 156/1875 | 364/8465 | 1.43e-19 | 4.62e-18 | 2.83e-18 | 156 |
hsa041374 | Colorectum | MSS | Mitophagy - animal | 27/1875 | 72/8465 | 2.17e-03 | 1.10e-02 | 6.76e-03 | 27 |
hsa050225 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa050145 | Colorectum | MSS | Amyotrophic lateral sclerosis | 156/1875 | 364/8465 | 1.43e-19 | 4.62e-18 | 2.83e-18 | 156 |
hsa041375 | Colorectum | MSS | Mitophagy - animal | 27/1875 | 72/8465 | 2.17e-03 | 1.10e-02 | 6.76e-03 | 27 |
hsa050146 | Colorectum | MSI-H | Amyotrophic lateral sclerosis | 95/797 | 364/8465 | 2.31e-21 | 1.50e-19 | 1.26e-19 | 95 |
hsa050226 | Colorectum | MSI-H | Pathways of neurodegeneration - multiple diseases | 107/797 | 476/8465 | 1.24e-18 | 5.72e-17 | 4.80e-17 | 107 |
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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 |
OPTN | SNV | Missense_Mutation | c.943N>A | p.Glu315Lys | p.E315K | Q96CV9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A0HN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
OPTN | SNV | Missense_Mutation | novel | c.117N>T | p.Glu39Asp | p.E39D | Q96CV9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
OPTN | SNV | Missense_Mutation | c.994N>C | p.Glu332Gln | p.E332Q | Q96CV9 | protein_coding | deleterious(0.01) | probably_damaging(0.953) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD | |
OPTN | insertion | Nonsense_Mutation | novel | c.728_729insAATATA | p.Gly243_Asn244insIleTer | p.G243_N244insI* | Q96CV9 | protein_coding | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
OPTN | SNV | Missense_Mutation | novel | c.1375G>A | p.Glu459Lys | p.E459K | Q96CV9 | protein_coding | deleterious(0) | possibly_damaging(0.575) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
OPTN | SNV | Missense_Mutation | novel | c.187C>G | p.Gln63Glu | p.Q63E | Q96CV9 | protein_coding | deleterious(0.02) | possibly_damaging(0.615) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
OPTN | SNV | Missense_Mutation | c.248N>A | p.Arg83His | p.R83H | Q96CV9 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
OPTN | SNV | Missense_Mutation | c.1111N>A | p.Glu371Lys | p.E371K | Q96CV9 | protein_coding | deleterious(0.01) | probably_damaging(0.952) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
OPTN | SNV | Missense_Mutation | c.455C>T | p.Ala152Val | p.A152V | Q96CV9 | protein_coding | deleterious(0.01) | possibly_damaging(0.786) | TCGA-AU-6004-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
OPTN | SNV | Missense_Mutation | rs778107336 | c.669G>T | p.Lys223Asn | p.K223N | Q96CV9 | protein_coding | tolerated(0.16) | possibly_damaging(0.628) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <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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