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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 | C46 | Human | Oral cavity | OSCC | 2.54e-25 | 8.45e-01 | 0.1673 |
10133 | OPTN | C51 | Human | Oral cavity | OSCC | 3.10e-12 | 7.91e-01 | 0.2674 |
10133 | OPTN | C57 | Human | Oral cavity | OSCC | 1.98e-05 | 3.94e-01 | 0.1679 |
10133 | OPTN | C06 | Human | Oral cavity | OSCC | 6.38e-14 | 2.32e+00 | 0.2699 |
10133 | OPTN | C07 | Human | Oral cavity | OSCC | 5.04e-03 | 1.07e+00 | 0.2491 |
10133 | OPTN | C08 | Human | Oral cavity | OSCC | 4.56e-09 | 4.35e-01 | 0.1919 |
10133 | OPTN | C09 | Human | Oral cavity | OSCC | 1.12e-02 | 8.64e-02 | 0.1431 |
10133 | OPTN | LN46 | Human | Oral cavity | OSCC | 1.26e-10 | 7.91e-01 | 0.1666 |
10133 | OPTN | LP15 | Human | Oral cavity | LP | 1.16e-03 | 1.05e+00 | 0.2174 |
10133 | OPTN | EOLP-1 | Human | Oral cavity | EOLP | 2.41e-02 | 1.92e-01 | -0.0202 |
10133 | OPTN | NEOLP-1 | Human | Oral cavity | NEOLP | 1.01e-02 | 2.23e-01 | -0.0194 |
10133 | OPTN | NEOLP-2 | Human | Oral cavity | NEOLP | 4.78e-05 | 2.65e-01 | -0.0196 |
10133 | OPTN | NEOLP-3 | Human | Oral cavity | NEOLP | 3.26e-08 | 3.63e-01 | -0.0191 |
10133 | OPTN | SYSMH1 | Human | Oral cavity | OSCC | 7.40e-03 | 2.78e-01 | 0.1127 |
10133 | OPTN | SYSMH2 | Human | Oral cavity | OSCC | 3.36e-32 | 1.19e+00 | 0.2326 |
10133 | OPTN | SYSMH3 | Human | Oral cavity | OSCC | 2.49e-19 | 7.70e-01 | 0.2442 |
10133 | OPTN | SYSMH4 | Human | Oral cavity | OSCC | 8.45e-04 | 9.21e-03 | 0.1226 |
10133 | OPTN | P4_S8_cSCC | Human | Skin | cSCC | 2.06e-11 | 2.98e-01 | -0.3095 |
10133 | OPTN | P5_S10_cSCC | Human | Skin | cSCC | 5.42e-08 | 2.31e-01 | -0.299 |
10133 | OPTN | P1_cSCC | Human | Skin | cSCC | 1.99e-43 | 1.40e+00 | 0.0292 |
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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:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
GO:0009896 | Colorectum | AD | positive regulation of catabolic process | 180/3918 | 492/18723 | 4.33e-16 | 1.94e-13 | 180 |
GO:0031331 | Colorectum | AD | positive regulation of cellular catabolic process | 156/3918 | 427/18723 | 4.68e-14 | 1.05e-11 | 156 |
GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:0090150 | Colorectum | AD | establishment of protein localization to membrane | 100/3918 | 260/18723 | 6.01e-11 | 6.33e-09 | 100 |
GO:0048193 | Colorectum | AD | Golgi vesicle transport | 109/3918 | 296/18723 | 1.80e-10 | 1.68e-08 | 109 |
GO:0022411 | Colorectum | AD | cellular component disassembly | 147/3918 | 443/18723 | 8.53e-10 | 6.76e-08 | 147 |
GO:0010506 | Colorectum | AD | regulation of autophagy | 111/3918 | 317/18723 | 3.57e-09 | 2.35e-07 | 111 |
GO:0016236 | Colorectum | AD | macroautophagy | 103/3918 | 291/18723 | 6.76e-09 | 4.15e-07 | 103 |
GO:0098876 | Colorectum | AD | vesicle-mediated transport to the plasma membrane | 57/3918 | 136/18723 | 2.30e-08 | 1.27e-06 | 57 |
GO:0061951 | Colorectum | AD | establishment of protein localization to plasma membrane | 31/3918 | 60/18723 | 1.37e-07 | 6.42e-06 | 31 |
GO:0006892 | Colorectum | AD | post-Golgi vesicle-mediated transport | 45/3918 | 104/18723 | 2.22e-07 | 9.26e-06 | 45 |
GO:0043112 | Colorectum | AD | receptor metabolic process | 62/3918 | 166/18723 | 8.18e-07 | 2.85e-05 | 62 |
GO:1903008 | Colorectum | AD | organelle disassembly | 46/3918 | 114/18723 | 1.81e-06 | 5.48e-05 | 46 |
GO:0000422 | Colorectum | AD | autophagy of mitochondrion | 35/3918 | 81/18723 | 4.94e-06 | 1.29e-04 | 35 |
GO:0061726 | Colorectum | AD | mitochondrion disassembly | 35/3918 | 81/18723 | 4.94e-06 | 1.29e-04 | 35 |
GO:0043001 | Colorectum | AD | Golgi to plasma membrane protein transport | 21/3918 | 40/18723 | 1.03e-05 | 2.40e-04 | 21 |
GO:0001881 | Colorectum | AD | receptor recycling | 18/3918 | 33/18723 | 2.23e-05 | 4.40e-04 | 18 |
GO:0006893 | Colorectum | AD | Golgi to plasma membrane transport | 27/3918 | 60/18723 | 2.41e-05 | 4.66e-04 | 27 |
GO:0061912 | Colorectum | AD | selective autophagy | 29/3918 | 68/18723 | 4.20e-05 | 7.39e-04 | 29 |
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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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