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Gene: NEFH |
Gene summary for NEFH |
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Gene information | Species | Human | Gene symbol | NEFH | Gene ID | 4744 |
Gene name | neurofilament heavy chain | |
Gene Alias | CMT2CC | |
Cytomap | 22q12.2 | |
Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | P12036 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4744 | NEFH | C43 | Human | Oral cavity | OSCC | 2.03e-17 | 2.97e-01 | 0.1704 |
4744 | NEFH | C86 | Human | Oral cavity | OSCC | 4.47e-05 | 6.76e-01 | 0.161 |
4744 | NEFH | LN22 | Human | Oral cavity | OSCC | 1.18e-14 | 1.09e+00 | 0.1733 |
4744 | NEFH | ATC13 | Human | Thyroid | ATC | 6.62e-35 | 7.70e-01 | 0.34 |
4744 | NEFH | ATC5 | Human | Thyroid | ATC | 1.18e-45 | 8.59e-01 | 0.34 |
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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:003238615 | Oral cavity | OSCC | regulation of intracellular transport | 218/7305 | 337/18723 | 6.91e-22 | 1.41e-19 | 218 |
GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
GO:003070510 | Oral cavity | OSCC | cytoskeleton-dependent intracellular transport | 113/7305 | 195/18723 | 6.03e-08 | 1.09e-06 | 113 |
GO:00109706 | Oral cavity | OSCC | transport along microtubule | 88/7305 | 155/18723 | 5.35e-06 | 6.02e-05 | 88 |
GO:00723845 | Oral cavity | OSCC | organelle transport along microtubule | 53/7305 | 85/18723 | 1.10e-05 | 1.14e-04 | 53 |
GO:19908237 | Oral cavity | OSCC | response to leukemia inhibitory factor | 58/7305 | 95/18723 | 1.10e-05 | 1.14e-04 | 58 |
GO:19908307 | Oral cavity | OSCC | cellular response to leukemia inhibitory factor | 57/7305 | 94/18723 | 1.75e-05 | 1.71e-04 | 57 |
GO:00991113 | Oral cavity | OSCC | microtubule-based transport | 96/7305 | 190/18723 | 7.92e-04 | 4.27e-03 | 96 |
GO:00451044 | Oral cavity | OSCC | intermediate filament cytoskeleton organization | 31/7305 | 51/18723 | 1.34e-03 | 6.62e-03 | 31 |
GO:00451034 | Oral cavity | OSCC | intermediate filament-based process | 31/7305 | 52/18723 | 2.08e-03 | 9.59e-03 | 31 |
GO:00328863 | Oral cavity | OSCC | regulation of microtubule-based process | 115/7305 | 240/18723 | 2.95e-03 | 1.28e-02 | 115 |
GO:006156410 | Oral cavity | OSCC | axon development | 207/7305 | 467/18723 | 1.01e-02 | 3.51e-02 | 207 |
GO:00991884 | Oral cavity | OSCC | postsynaptic cytoskeleton organization | 10/7305 | 14/18723 | 1.44e-02 | 4.69e-02 | 10 |
GO:003238632 | Thyroid | ATC | regulation of intracellular transport | 203/6293 | 337/18723 | 6.16e-24 | 1.85e-21 | 203 |
GO:005165625 | Thyroid | ATC | establishment of organelle localization | 206/6293 | 390/18723 | 2.62e-15 | 1.84e-13 | 206 |
GO:006156423 | Thyroid | ATC | axon development | 220/6293 | 467/18723 | 6.85e-10 | 1.80e-08 | 220 |
GO:003070532 | Thyroid | ATC | cytoskeleton-dependent intracellular transport | 105/6293 | 195/18723 | 4.31e-09 | 9.70e-08 | 105 |
GO:000740919 | Thyroid | ATC | axonogenesis | 197/6293 | 418/18723 | 5.09e-09 | 1.13e-07 | 197 |
GO:001097022 | Thyroid | ATC | transport along microtubule | 83/6293 | 155/18723 | 2.38e-07 | 3.70e-06 | 83 |
GO:003288613 | Thyroid | ATC | regulation of microtubule-based process | 114/6293 | 240/18723 | 5.17e-06 | 5.59e-05 | 114 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501428 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa05014112 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa05022112 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
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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 |
NEFH | SNV | Missense_Mutation | novel | c.2690N>A | p.Ala897Asp | p.A897D | P12036 | protein_coding | deleterious_low_confidence(0.01) | benign(0.3) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NEFH | SNV | Missense_Mutation | c.1546N>T | p.Ala516Ser | p.A516S | P12036 | protein_coding | tolerated(0.1) | benign(0.107) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
NEFH | SNV | Missense_Mutation | c.1792N>A | p.Ala598Thr | p.A598T | P12036 | protein_coding | tolerated(0.14) | benign(0.005) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
NEFH | SNV | Missense_Mutation | c.1006A>G | p.Lys336Glu | p.K336E | P12036 | protein_coding | deleterious(0) | possibly_damaging(0.794) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
NEFH | SNV | Missense_Mutation | rs201798049 | c.1627N>A | p.Glu543Lys | p.E543K | P12036 | protein_coding | tolerated(0.13) | benign(0.03) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NEFH | SNV | Missense_Mutation | novel | c.2770N>A | p.Glu924Lys | p.E924K | P12036 | protein_coding | deleterious_low_confidence(0) | benign(0.007) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
NEFH | SNV | Missense_Mutation | c.2110N>C | p.Ser704Pro | p.S704P | P12036 | protein_coding | deleterious_low_confidence(0) | benign(0.028) | TCGA-CK-5913-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
NEFH | SNV | Missense_Mutation | c.1826N>G | p.Lys609Arg | p.K609R | P12036 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-EI-6510-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
NEFH | SNV | Missense_Mutation | c.3010G>T | p.Asp1004Tyr | p.D1004Y | P12036 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.847) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD | |
NEFH | insertion | Frame_Shift_Ins | novel | c.2450dupA | p.Glu818GlyfsTer74 | p.E818Gfs*74 | P12036 | protein_coding | TCGA-G5-6572-02 | Colorectum | NA | NA | NA | NA | NA | NA | NA |
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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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