![]() |
|||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Gene: HEPHL1 |
Gene summary for HEPHL1 |
![]() |
Gene information | Species | Human | Gene symbol | HEPHL1 | Gene ID | 341208 |
Gene name | hephaestin like 1 | |
Gene Alias | HJDD | |
Cytomap | 11q21 | |
Gene Type | protein-coding | GO ID | GO:0000041 | UniProtAcc | Q6MZM0 |
Top |
Malignant transformation analysis |
![]() |
![]() |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
341208 | HEPHL1 | C04 | Human | Oral cavity | OSCC | 1.86e-30 | 1.57e+00 | 0.2633 |
341208 | HEPHL1 | C21 | Human | Oral cavity | OSCC | 1.23e-27 | 1.31e+00 | 0.2678 |
341208 | HEPHL1 | C57 | Human | Oral cavity | OSCC | 3.15e-03 | 1.31e-01 | 0.1679 |
341208 | HEPHL1 | SYSMH3 | Human | Oral cavity | OSCC | 5.70e-20 | 6.85e-01 | 0.2442 |
341208 | HEPHL1 | SYSMH5 | Human | Oral cavity | OSCC | 1.38e-08 | 3.01e-01 | 0.0647 |
Page: 1 |
![]() |
Tissue | Expression Dynamics | Abbreviation |
Oral Cavity | ![]() | EOLP: Erosive Oral lichen planus |
LP: leukoplakia | ||
NEOLP: Non-erosive oral lichen planus | ||
OSCC: Oral squamous cell carcinoma |
∗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. |
Top |
Malignant transformation related pathway analysis |
![]() |
![]() |
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 |
![]() |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005507610 | Oral cavity | OSCC | transition metal ion homeostasis | 81/7305 | 138/18723 | 2.13e-06 | 2.72e-05 | 81 |
GO:00469168 | Oral cavity | OSCC | cellular transition metal ion homeostasis | 64/7305 | 115/18723 | 2.13e-04 | 1.40e-03 | 64 |
GO:00550728 | Oral cavity | OSCC | iron ion homeostasis | 46/7305 | 85/18723 | 3.31e-03 | 1.42e-02 | 46 |
Page: 1 |
![]() |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
Page: 1 |
Top |
Cell-cell communication analysis |
![]() |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
Page: 1 |
Top |
Single-cell gene regulatory network inference analysis |
![]() |
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. |
Page: 1 |
Top |
Somatic mutation of malignant transformation related genes |
![]() |
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 |
HEPHL1 | SNV | Missense_Mutation | c.1238N>G | p.Ser413Cys | p.S413C | Q6MZM0 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-22-1016-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
HEPHL1 | SNV | Missense_Mutation | rs375073984 | c.3389N>T | p.Thr1130Met | p.T1130M | Q6MZM0 | protein_coding | tolerated_low_confidence(0.1) | benign(0.154) | TCGA-22-1016-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
HEPHL1 | SNV | Missense_Mutation | c.1600C>A | p.Pro534Thr | p.P534T | Q6MZM0 | protein_coding | tolerated(0.31) | benign(0.173) | TCGA-22-5479-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | carboplatin | SD | |
HEPHL1 | SNV | Missense_Mutation | novel | c.148G>C | p.Gly50Arg | p.G50R | Q6MZM0 | protein_coding | deleterious(0.02) | probably_damaging(0.981) | TCGA-34-8455-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
HEPHL1 | SNV | Missense_Mutation | novel | c.1258G>T | p.Gly420Trp | p.G420W | Q6MZM0 | protein_coding | deleterious(0) | probably_damaging(0.914) | TCGA-39-5016-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
HEPHL1 | SNV | Missense_Mutation | c.3401N>A | p.Ser1134Tyr | p.S1134Y | Q6MZM0 | protein_coding | tolerated_low_confidence(0.45) | benign(0.034) | TCGA-43-A474-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | CR | |
HEPHL1 | SNV | Missense_Mutation | c.977N>A | p.Phe326Tyr | p.F326Y | Q6MZM0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-66-2782-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unspecific | PD | ||
HEPHL1 | SNV | Missense_Mutation | c.674N>G | p.Glu225Gly | p.E225G | Q6MZM0 | protein_coding | tolerated(0.07) | benign(0.313) | TCGA-66-2787-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
HEPHL1 | SNV | Missense_Mutation | c.2372C>A | p.Thr791Lys | p.T791K | Q6MZM0 | protein_coding | deleterious(0.01) | possibly_damaging(0.532) | TCGA-66-2789-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
HEPHL1 | SNV | Missense_Mutation | c.2678T>A | p.Val893Glu | p.V893E | Q6MZM0 | protein_coding | deleterious(0.01) | probably_damaging(0.945) | TCGA-66-2789-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
Top |
Related drugs of malignant transformation related genes |
![]() |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
Page: 1 |