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Gene: HAND2 |
Gene summary for HAND2 |
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Gene information | Species | Human | Gene symbol | HAND2 | Gene ID | 9464 |
Gene name | heart and neural crest derivatives expressed 2 | |
Gene Alias | DHAND2 | |
Cytomap | 4q34.1 | |
Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | P61296 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9464 | HAND2 | P11T-E | Human | Esophagus | ESCC | 9.07e-04 | 1.93e-01 | 0.1426 |
9464 | HAND2 | P16T-E | Human | Esophagus | ESCC | 5.17e-27 | 5.02e-01 | 0.1153 |
9464 | HAND2 | P56T-E | Human | Esophagus | ESCC | 5.84e-10 | 9.18e-01 | 0.1613 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:0051099111 | Esophagus | ESCC | positive regulation of binding | 122/8552 | 173/18723 | 2.79e-11 | 9.45e-10 | 122 |
GO:0051101111 | Esophagus | ESCC | regulation of DNA binding | 84/8552 | 118/18723 | 1.64e-08 | 3.21e-07 | 84 |
GO:0051100111 | Esophagus | ESCC | negative regulation of binding | 109/8552 | 162/18723 | 2.10e-08 | 4.03e-07 | 109 |
GO:003109818 | Esophagus | ESCC | stress-activated protein kinase signaling cascade | 154/8552 | 247/18723 | 8.53e-08 | 1.44e-06 | 154 |
GO:00510908 | Esophagus | ESCC | regulation of DNA-binding transcription factor activity | 252/8552 | 440/18723 | 5.22e-07 | 6.97e-06 | 252 |
GO:005140318 | Esophagus | ESCC | stress-activated MAPK cascade | 147/8552 | 239/18723 | 5.43e-07 | 7.18e-06 | 147 |
GO:000164918 | Esophagus | ESCC | osteoblast differentiation | 140/8552 | 229/18723 | 1.63e-06 | 1.95e-05 | 140 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
GO:007030217 | Esophagus | ESCC | regulation of stress-activated protein kinase signaling cascade | 119/8552 | 195/18723 | 1.07e-05 | 1.01e-04 | 119 |
GO:003287217 | Esophagus | ESCC | regulation of stress-activated MAPK cascade | 116/8552 | 192/18723 | 2.63e-05 | 2.21e-04 | 116 |
GO:00488638 | Esophagus | ESCC | stem cell differentiation | 122/8552 | 206/18723 | 5.95e-05 | 4.59e-04 | 122 |
GO:00485386 | Esophagus | ESCC | thymus development | 33/8552 | 45/18723 | 1.54e-04 | 1.02e-03 | 33 |
GO:00433924 | Esophagus | ESCC | negative regulation of DNA binding | 37/8552 | 52/18723 | 1.75e-04 | 1.14e-03 | 37 |
GO:00487628 | Esophagus | ESCC | mesenchymal cell differentiation | 133/8552 | 236/18723 | 5.94e-04 | 3.22e-03 | 133 |
GO:004338819 | Esophagus | ESCC | positive regulation of DNA binding | 38/8552 | 56/18723 | 6.60e-04 | 3.50e-03 | 38 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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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∗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 |
HAND2 | SNV | Missense_Mutation | novel | c.329N>A | p.Arg110His | p.R110H | P61296 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A0IZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HAND2 | SNV | Missense_Mutation | c.445G>A | p.Ala149Thr | p.A149T | P61296 | protein_coding | deleterious(0.03) | possibly_damaging(0.657) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
HAND2 | SNV | Missense_Mutation | rs780513534 | c.526N>A | p.Val176Met | p.V176M | P61296 | protein_coding | tolerated(0.11) | benign(0.061) | TCGA-BG-A221-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HAND2 | SNV | Missense_Mutation | novel | c.523G>A | p.Asp175Asn | p.D175N | P61296 | protein_coding | tolerated(0.07) | benign(0.079) | TCGA-D1-A1NZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HAND2 | SNV | Missense_Mutation | novel | c.467N>T | p.Ala156Val | p.A156V | P61296 | protein_coding | deleterious(0.04) | benign(0.171) | TCGA-EY-A1H0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | SD |
HAND2 | SNV | Missense_Mutation | novel | c.491N>T | p.Ala164Val | p.A164V | P61296 | protein_coding | tolerated(0.19) | benign(0.03) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
HAND2 | SNV | Missense_Mutation | novel | c.352N>A | p.Ala118Thr | p.A118T | P61296 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
HAND2 | SNV | Missense_Mutation | novel | c.41N>G | p.His14Arg | p.H14R | P61296 | protein_coding | tolerated(0.21) | benign(0.264) | TCGA-4R-AA8I-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
HAND2 | SNV | Missense_Mutation | rs866374463 | c.559N>A | p.Glu187Lys | p.E187K | P61296 | protein_coding | tolerated(0.06) | benign(0.005) | TCGA-05-4410-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
HAND2 | SNV | Missense_Mutation | c.271G>T | p.Gly91Cys | p.G91C | P61296 | protein_coding | tolerated(0.06) | possibly_damaging(0.894) | TCGA-44-3918-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | 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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