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Gene: NF2 |
Gene summary for NF2 |
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Gene information | Species | Human | Gene symbol | NF2 | Gene ID | 4771 |
Gene name | neurofibromin 2 | |
Gene Alias | ACN | |
Cytomap | 22q12.2 | |
Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | A0A024R1J8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4771 | NF2 | LZE24T | Human | Esophagus | ESCC | 4.83e-03 | 1.09e-01 | 0.0596 |
4771 | NF2 | P2T-E | Human | Esophagus | ESCC | 4.56e-16 | 2.22e-01 | 0.1177 |
4771 | NF2 | P4T-E | Human | Esophagus | ESCC | 1.59e-12 | 2.87e-01 | 0.1323 |
4771 | NF2 | P8T-E | Human | Esophagus | ESCC | 5.81e-11 | 1.83e-01 | 0.0889 |
4771 | NF2 | P9T-E | Human | Esophagus | ESCC | 1.10e-04 | 1.08e-01 | 0.1131 |
4771 | NF2 | P10T-E | Human | Esophagus | ESCC | 1.71e-12 | 2.54e-01 | 0.116 |
4771 | NF2 | P11T-E | Human | Esophagus | ESCC | 4.09e-04 | 1.37e-01 | 0.1426 |
4771 | NF2 | P12T-E | Human | Esophagus | ESCC | 1.76e-05 | 1.60e-01 | 0.1122 |
4771 | NF2 | P15T-E | Human | Esophagus | ESCC | 1.01e-08 | 1.90e-01 | 0.1149 |
4771 | NF2 | P16T-E | Human | Esophagus | ESCC | 6.54e-16 | 1.95e-01 | 0.1153 |
4771 | NF2 | P17T-E | Human | Esophagus | ESCC | 5.11e-10 | 4.29e-01 | 0.1278 |
4771 | NF2 | P19T-E | Human | Esophagus | ESCC | 1.18e-08 | 3.65e-01 | 0.1662 |
4771 | NF2 | P20T-E | Human | Esophagus | ESCC | 2.72e-05 | 1.25e-01 | 0.1124 |
4771 | NF2 | P21T-E | Human | Esophagus | ESCC | 1.30e-09 | 1.97e-01 | 0.1617 |
4771 | NF2 | P22T-E | Human | Esophagus | ESCC | 1.34e-12 | 2.28e-01 | 0.1236 |
4771 | NF2 | P23T-E | Human | Esophagus | ESCC | 6.91e-04 | 1.38e-01 | 0.108 |
4771 | NF2 | P24T-E | Human | Esophagus | ESCC | 3.17e-07 | 1.64e-01 | 0.1287 |
4771 | NF2 | P26T-E | Human | Esophagus | ESCC | 7.27e-12 | 3.00e-01 | 0.1276 |
4771 | NF2 | P27T-E | Human | Esophagus | ESCC | 2.03e-14 | 2.01e-01 | 0.1055 |
4771 | NF2 | P28T-E | Human | Esophagus | ESCC | 2.19e-06 | 1.53e-01 | 0.1149 |
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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:005149616 | Thyroid | ATC | positive regulation of stress fiber assembly | 30/6293 | 52/18723 | 3.08e-04 | 1.94e-03 | 30 |
GO:001692513 | Thyroid | ATC | protein sumoylation | 30/6293 | 53/18723 | 4.84e-04 | 2.83e-03 | 30 |
GO:005160712 | Thyroid | ATC | defense response to virus | 115/6293 | 265/18723 | 5.31e-04 | 3.09e-03 | 115 |
GO:014054612 | Thyroid | ATC | defense response to symbiont | 115/6293 | 265/18723 | 5.31e-04 | 3.09e-03 | 115 |
GO:004340926 | Thyroid | ATC | negative regulation of MAPK cascade | 82/6293 | 180/18723 | 5.51e-04 | 3.19e-03 | 82 |
GO:003532921 | Thyroid | ATC | hippo signaling | 24/6293 | 40/18723 | 5.54e-04 | 3.20e-03 | 24 |
GO:005073211 | Thyroid | ATC | negative regulation of peptidyl-tyrosine phosphorylation | 32/6293 | 59/18723 | 8.74e-04 | 4.72e-03 | 32 |
GO:003247913 | Thyroid | ATC | regulation of type I interferon production | 47/6293 | 95/18723 | 9.81e-04 | 5.21e-03 | 47 |
GO:003260613 | Thyroid | ATC | type I interferon production | 47/6293 | 95/18723 | 9.81e-04 | 5.21e-03 | 47 |
GO:001821211 | Thyroid | ATC | peptidyl-tyrosine modification | 156/6293 | 378/18723 | 1.01e-03 | 5.36e-03 | 156 |
GO:004206323 | Thyroid | ATC | gliogenesis | 127/6293 | 301/18723 | 1.07e-03 | 5.66e-03 | 127 |
GO:004001316 | Thyroid | ATC | negative regulation of locomotion | 160/6293 | 391/18723 | 1.36e-03 | 7.07e-03 | 160 |
GO:000716225 | Thyroid | ATC | negative regulation of cell adhesion | 127/6293 | 303/18723 | 1.45e-03 | 7.47e-03 | 127 |
GO:00425526 | Thyroid | ATC | myelination | 62/6293 | 134/18723 | 1.54e-03 | 7.84e-03 | 62 |
GO:003033616 | Thyroid | ATC | negative regulation of cell migration | 142/6293 | 344/18723 | 1.64e-03 | 8.22e-03 | 142 |
GO:00181086 | Thyroid | ATC | peptidyl-tyrosine phosphorylation | 153/6293 | 375/18723 | 1.96e-03 | 9.48e-03 | 153 |
GO:005127117 | Thyroid | ATC | negative regulation of cellular component movement | 150/6293 | 367/18723 | 1.99e-03 | 9.54e-03 | 150 |
GO:003496815 | Thyroid | ATC | histone lysine methylation | 54/6293 | 115/18723 | 2.00e-03 | 9.58e-03 | 54 |
GO:004341412 | Thyroid | ATC | macromolecule methylation | 131/6293 | 316/18723 | 2.01e-03 | 9.60e-03 | 131 |
GO:200014617 | Thyroid | ATC | negative regulation of cell motility | 147/6293 | 359/18723 | 2.01e-03 | 9.60e-03 | 147 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04530211 | Esophagus | ESCC | Tight junction | 105/4205 | 169/8465 | 6.73e-04 | 2.23e-03 | 1.14e-03 | 105 |
hsa0439018 | Esophagus | ESCC | Hippo signaling pathway | 92/4205 | 157/8465 | 1.46e-02 | 3.31e-02 | 1.69e-02 | 92 |
hsa04530310 | Esophagus | ESCC | Tight junction | 105/4205 | 169/8465 | 6.73e-04 | 2.23e-03 | 1.14e-03 | 105 |
hsa0439019 | Esophagus | ESCC | Hippo signaling pathway | 92/4205 | 157/8465 | 1.46e-02 | 3.31e-02 | 1.69e-02 | 92 |
hsa0453030 | Oral cavity | OSCC | Tight junction | 102/3704 | 169/8465 | 8.68e-06 | 3.93e-05 | 2.00e-05 | 102 |
hsa0439016 | Oral cavity | OSCC | Hippo signaling pathway | 86/3704 | 157/8465 | 3.30e-03 | 8.24e-03 | 4.20e-03 | 86 |
hsa04530114 | Oral cavity | OSCC | Tight junction | 102/3704 | 169/8465 | 8.68e-06 | 3.93e-05 | 2.00e-05 | 102 |
hsa0439017 | Oral cavity | OSCC | Hippo signaling pathway | 86/3704 | 157/8465 | 3.30e-03 | 8.24e-03 | 4.20e-03 | 86 |
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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 |
NF2 | SNV | Missense_Mutation | c.645N>C | p.Glu215Asp | p.E215D | P35240 | protein_coding | tolerated(0.61) | benign(0.003) | TCGA-BH-A0C7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR | |
NF2 | SNV | Missense_Mutation | c.17N>T | p.Ala6Val | p.A6V | P35240 | protein_coding | deleterious_low_confidence(0.01) | benign(0.023) | TCGA-C5-A7CO-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD | |
NF2 | SNV | Missense_Mutation | rs74315503 | c.1387N>A | p.Glu463Lys | p.E463K | P35240 | protein_coding | tolerated(0.49) | benign(0.311) | TCGA-C5-A8XK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
NF2 | SNV | Missense_Mutation | rs765386271 | c.1672N>G | p.Leu558Val | p.L558V | P35240 | protein_coding | tolerated(0.08) | possibly_damaging(0.528) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
NF2 | SNV | Missense_Mutation | novel | c.746N>A | p.Arg249Lys | p.R249K | P35240 | protein_coding | tolerated(1) | benign(0.003) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NF2 | SNV | Missense_Mutation | rs776109136 | c.1391N>T | p.Ala464Val | p.A464V | P35240 | protein_coding | deleterious(0.01) | possibly_damaging(0.798) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NF2 | SNV | Missense_Mutation | c.813N>G | p.Phe271Leu | p.F271L | P35240 | protein_coding | tolerated(0.15) | benign(0.411) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
NF2 | SNV | Missense_Mutation | c.1075A>T | p.Arg359Trp | p.R359W | P35240 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AU-6004-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
NF2 | SNV | Missense_Mutation | novel | c.275N>C | p.Val92Ala | p.V92A | P35240 | protein_coding | tolerated(0.28) | benign(0.396) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
NF2 | SNV | Missense_Mutation | novel | c.369N>T | p.Lys123Asn | p.K123N | P35240 | protein_coding | deleterious(0.02) | probably_damaging(0.918) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
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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 |
4771 | NF2 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUG RESISTANCE, KINASE | SELUMETINIB | SELUMETINIB | 26359368 | |
4771 | NF2 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUG RESISTANCE, KINASE | EVEROLIMUS | EVEROLIMUS | 25567352 | |
4771 | NF2 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUG RESISTANCE, KINASE | TEMSIROLIMUS | TEMSIROLIMUS | 25878190 | |
4771 | NF2 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUG RESISTANCE, KINASE | CISPLATIN | CISPLATIN | 25798586 | |
4771 | NF2 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUG RESISTANCE, KINASE | CARBOPLATIN | CARBOPLATIN | 25798586 |
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