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Gene: ERBB2 |
Gene summary for ERBB2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | ERBB2 | Gene ID | 2064 |
Gene name | erb-b2 receptor tyrosine kinase 2 | |
Gene Alias | CD340 | |
Cytomap | 17q12 | |
Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | P04626 |
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Malignant transformation analysis |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2064 | ERBB2 | GSM4909286 | Human | Breast | IDC | 2.51e-03 | 1.71e-01 | 0.1081 |
2064 | ERBB2 | GSM4909289 | Human | Breast | IDC | 2.33e-05 | 6.76e-01 | 0.1064 |
2064 | ERBB2 | GSM4909290 | Human | Breast | IDC | 4.42e-118 | 1.77e+00 | 0.2096 |
2064 | ERBB2 | GSM4909291 | Human | Breast | IDC | 5.16e-85 | 1.56e+00 | 0.1753 |
2064 | ERBB2 | GSM4909292 | Human | Breast | IDC | 3.67e-13 | 1.06e+00 | 0.1236 |
2064 | ERBB2 | GSM4909293 | Human | Breast | IDC | 3.33e-84 | 1.31e+00 | 0.1581 |
2064 | ERBB2 | GSM4909294 | Human | Breast | IDC | 1.31e-37 | 9.35e-01 | 0.2022 |
2064 | ERBB2 | GSM4909295 | Human | Breast | IDC | 1.09e-02 | 4.07e-01 | 0.0898 |
2064 | ERBB2 | GSM4909296 | Human | Breast | IDC | 8.11e-05 | -1.15e-01 | 0.1524 |
2064 | ERBB2 | GSM4909298 | Human | Breast | IDC | 1.57e-02 | 1.94e-01 | 0.1551 |
2064 | ERBB2 | GSM4909311 | Human | Breast | IDC | 1.34e-06 | -2.81e-02 | 0.1534 |
2064 | ERBB2 | GSM4909317 | Human | Breast | IDC | 1.06e-06 | 3.51e-01 | 0.1355 |
2064 | ERBB2 | GSM4909319 | Human | Breast | IDC | 2.51e-13 | -1.27e-01 | 0.1563 |
2064 | ERBB2 | GSM4909321 | Human | Breast | IDC | 5.30e-03 | -7.33e-02 | 0.1559 |
2064 | ERBB2 | brca2 | Human | Breast | Precancer | 5.63e-08 | 2.57e-01 | -0.024 |
2064 | ERBB2 | brca3 | Human | Breast | Precancer | 1.85e-03 | 1.80e-01 | -0.0263 |
2064 | ERBB2 | M2 | Human | Breast | IDC | 7.92e-23 | 1.14e+00 | 0.21 |
2064 | ERBB2 | NCCBC14 | Human | Breast | DCIS | 7.63e-56 | 1.33e+00 | 0.2021 |
2064 | ERBB2 | NCCBC5 | Human | Breast | DCIS | 3.53e-34 | 1.02e+00 | 0.2046 |
2064 | ERBB2 | P1 | Human | Breast | IDC | 1.77e-03 | -9.05e-02 | 0.1527 |
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Transcriptomic changes along malignancy continuum. |
∗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 |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
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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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004677715 | Skin | cSCC | protein autophosphorylation | 84/4864 | 227/18723 | 1.53e-04 | 1.35e-03 | 84 |
GO:000155824 | Skin | cSCC | regulation of cell growth | 140/4864 | 414/18723 | 2.07e-04 | 1.72e-03 | 140 |
GO:007190024 | Skin | cSCC | regulation of protein serine/threonine kinase activity | 123/4864 | 359/18723 | 2.70e-04 | 2.17e-03 | 123 |
GO:005067324 | Skin | cSCC | epithelial cell proliferation | 144/4864 | 437/18723 | 6.07e-04 | 4.38e-03 | 144 |
GO:190547724 | Skin | cSCC | positive regulation of protein localization to membrane | 43/4864 | 106/18723 | 7.14e-04 | 5.03e-03 | 43 |
GO:004206322 | Skin | cSCC | gliogenesis | 103/4864 | 301/18723 | 8.48e-04 | 5.85e-03 | 103 |
GO:004255221 | Skin | cSCC | myelination | 51/4864 | 134/18723 | 1.37e-03 | 8.70e-03 | 51 |
GO:003030722 | Skin | cSCC | positive regulation of cell growth | 61/4864 | 166/18723 | 1.39e-03 | 8.78e-03 | 61 |
GO:000727221 | Skin | cSCC | ensheathment of neurons | 51/4864 | 136/18723 | 1.99e-03 | 1.19e-02 | 51 |
GO:000836621 | Skin | cSCC | axon ensheathment | 51/4864 | 136/18723 | 1.99e-03 | 1.19e-02 | 51 |
GO:190370626 | Skin | cSCC | regulation of hemopoiesis | 120/4864 | 367/18723 | 2.23e-03 | 1.32e-02 | 120 |
GO:001000122 | Skin | cSCC | glial cell differentiation | 78/4864 | 225/18723 | 2.27e-03 | 1.33e-02 | 78 |
GO:003288612 | Skin | cSCC | regulation of microtubule-based process | 82/4864 | 240/18723 | 2.82e-03 | 1.58e-02 | 82 |
GO:003367425 | Skin | cSCC | positive regulation of kinase activity | 148/4864 | 467/18723 | 3.00e-03 | 1.66e-02 | 148 |
GO:004578529 | Skin | cSCC | positive regulation of cell adhesion | 139/4864 | 437/18723 | 3.39e-03 | 1.84e-02 | 139 |
GO:190210524 | Skin | cSCC | regulation of leukocyte differentiation | 92/4864 | 279/18723 | 5.20e-03 | 2.63e-02 | 92 |
GO:004586025 | Skin | cSCC | positive regulation of protein kinase activity | 123/4864 | 386/18723 | 5.23e-03 | 2.64e-02 | 123 |
GO:006156422 | Skin | cSCC | axon development | 146/4864 | 467/18723 | 5.50e-03 | 2.73e-02 | 146 |
GO:000716224 | Skin | cSCC | negative regulation of cell adhesion | 98/4864 | 303/18723 | 7.45e-03 | 3.50e-02 | 98 |
GO:004562021 | Skin | cSCC | negative regulation of lymphocyte differentiation | 23/4864 | 55/18723 | 7.54e-03 | 3.53e-02 | 23 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0453018 | Breast | Precancer | Tight junction | 31/684 | 169/8465 | 1.13e-05 | 1.26e-04 | 9.64e-05 | 31 |
hsa0406616 | Breast | Precancer | HIF-1 signaling pathway | 23/684 | 109/8465 | 1.51e-05 | 1.59e-04 | 1.22e-04 | 23 |
hsa0520514 | Breast | Precancer | Proteoglycans in cancer | 30/684 | 205/8465 | 1.00e-03 | 7.18e-03 | 5.50e-03 | 30 |
hsa0452018 | Breast | Precancer | Adherens junction | 17/684 | 93/8465 | 1.11e-03 | 7.57e-03 | 5.80e-03 | 17 |
hsa052309 | Breast | Precancer | Central carbon metabolism in cancer | 13/684 | 70/8465 | 3.57e-03 | 2.17e-02 | 1.66e-02 | 13 |
hsa0453019 | Breast | Precancer | Tight junction | 31/684 | 169/8465 | 1.13e-05 | 1.26e-04 | 9.64e-05 | 31 |
hsa0406617 | Breast | Precancer | HIF-1 signaling pathway | 23/684 | 109/8465 | 1.51e-05 | 1.59e-04 | 1.22e-04 | 23 |
hsa0520515 | Breast | Precancer | Proteoglycans in cancer | 30/684 | 205/8465 | 1.00e-03 | 7.18e-03 | 5.50e-03 | 30 |
hsa0452019 | Breast | Precancer | Adherens junction | 17/684 | 93/8465 | 1.11e-03 | 7.57e-03 | 5.80e-03 | 17 |
hsa0523012 | Breast | Precancer | Central carbon metabolism in cancer | 13/684 | 70/8465 | 3.57e-03 | 2.17e-02 | 1.66e-02 | 13 |
hsa0453024 | Breast | IDC | Tight junction | 38/867 | 169/8465 | 2.07e-06 | 3.20e-05 | 2.39e-05 | 38 |
hsa0520523 | Breast | IDC | Proteoglycans in cancer | 42/867 | 205/8465 | 7.69e-06 | 9.99e-05 | 7.48e-05 | 42 |
hsa0406623 | Breast | IDC | HIF-1 signaling pathway | 22/867 | 109/8465 | 1.36e-03 | 1.00e-02 | 7.50e-03 | 22 |
hsa0521921 | Breast | IDC | Bladder cancer | 10/867 | 41/8465 | 7.07e-03 | 3.54e-02 | 2.65e-02 | 10 |
hsa045109 | Breast | IDC | Focal adhesion | 32/867 | 203/8465 | 8.60e-03 | 4.23e-02 | 3.17e-02 | 32 |
hsa0453034 | Breast | IDC | Tight junction | 38/867 | 169/8465 | 2.07e-06 | 3.20e-05 | 2.39e-05 | 38 |
hsa0520533 | Breast | IDC | Proteoglycans in cancer | 42/867 | 205/8465 | 7.69e-06 | 9.99e-05 | 7.48e-05 | 42 |
hsa0406633 | Breast | IDC | HIF-1 signaling pathway | 22/867 | 109/8465 | 1.36e-03 | 1.00e-02 | 7.50e-03 | 22 |
hsa0521931 | Breast | IDC | Bladder cancer | 10/867 | 41/8465 | 7.07e-03 | 3.54e-02 | 2.65e-02 | 10 |
hsa0451013 | Breast | IDC | Focal adhesion | 32/867 | 203/8465 | 8.60e-03 | 4.23e-02 | 3.17e-02 | 32 |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
AREG | EGFR_ERBB2 | AREG_EGFR_ERBB2 | EGF | Breast | DCIS |
HBEGF | EGFR_ERBB2 | HBEGF_EGFR_ERBB2 | EGF | Breast | DCIS |
EREG | EGFR_ERBB2 | EREG_EGFR_ERBB2 | EGF | Breast | DCIS |
NRG1 | ERBB2_ERBB3 | NRG1_ERBB2_ERBB3 | NRG | Breast | DCIS |
AREG | EGFR_ERBB2 | AREG_EGFR_ERBB2 | EGF | Cervix | CC |
HBEGF | EGFR_ERBB2 | HBEGF_EGFR_ERBB2 | EGF | Cervix | CC |
HBEGF | ERBB2_ERBB4 | HBEGF_ERBB2_ERBB4 | EGF | Cervix | CC |
NRG1 | ERBB2_ERBB4 | NRG1_ERBB2_ERBB4 | NRG | Cervix | CC |
NRG4 | ERBB2_ERBB4 | NRG4_ERBB2_ERBB4 | NRG | Cervix | CC |
NRG1 | ERBB2_ERBB3 | NRG1_ERBB2_ERBB3 | NRG | Cervix | Precancer |
NRG1 | ERBB2_ERBB3 | NRG1_ERBB2_ERBB3 | NRG | CRC | AD |
TGFA | EGFR_ERBB2 | TGFA_EGFR_ERBB2 | EGF | CRC | AD |
NRG1 | ERBB2_ERBB3 | NRG1_ERBB2_ERBB3 | NRG | CRC | ADJ |
TGFA | EGFR_ERBB2 | TGFA_EGFR_ERBB2 | EGF | CRC | ADJ |
AREG | EGFR_ERBB2 | AREG_EGFR_ERBB2 | EGF | CRC | ADJ |
AREG | EGFR_ERBB2 | AREG_EGFR_ERBB2 | EGF | CRC | FAP |
NRG1 | ERBB2_ERBB3 | NRG1_ERBB2_ERBB3 | NRG | CRC | FAP |
TGFA | EGFR_ERBB2 | TGFA_EGFR_ERBB2 | EGF | CRC | MSI-H |
AREG | EGFR_ERBB2 | AREG_EGFR_ERBB2 | EGF | CRC | MSI-H |
HBEGF | EGFR_ERBB2 | HBEGF_EGFR_ERBB2 | EGF | CRC | MSS |
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Single-cell gene regulatory network inference analysis |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
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 |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
ERBB2 | SNV | Missense_Mutation | rs121913471 | c.2329N>T | p.Val777Leu | p.V777L | P04626 | protein_coding | deleterious(0.05) | benign(0.036) | TCGA-4H-AAAK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | CR |
ERBB2 | SNV | Missense_Mutation | c.2033N>A | p.Arg678Gln | p.R678Q | P04626 | protein_coding | tolerated(0.19) | benign(0.103) | TCGA-A2-A0T6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
ERBB2 | SNV | Missense_Mutation | c.2263N>A | p.Leu755Met | p.L755M | P04626 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0T6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
ERBB2 | SNV | Missense_Mutation | c.2264N>G | p.Leu755Trp | p.L755W | P04626 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0T6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
ERBB2 | SNV | Missense_Mutation | c.929C>T | p.Ser310Phe | p.S310F | P04626 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | |
ERBB2 | SNV | Missense_Mutation | c.926N>C | p.Gly309Ala | p.G309A | P04626 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-A8-A06Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ERBB2 | SNV | Missense_Mutation | c.2524N>A | p.Val842Ile | p.V842I | P04626 | protein_coding | deleterious(0) | possibly_damaging(0.906) | TCGA-A8-A08Z-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
ERBB2 | SNV | Missense_Mutation | rs121913470 | c.2264N>C | p.Leu755Ser | p.L755S | P04626 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A0A6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | epirubicin | CR |
ERBB2 | SNV | Missense_Mutation | rs121913470 | c.2264T>C | p.Leu755Ser | p.L755S | P04626 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A0AB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
ERBB2 | SNV | Missense_Mutation | rs121913470 | c.2264T>C | p.Leu755Ser | p.L755S | P04626 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AC-A3YI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
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Related drugs of malignant transformation related genes |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | EMODIN | EMODIN | 9671406 | |
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | CHEMBL2108029 | ERTUMAXOMAB | ||
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | Talazoparib | TALAZOPARIB | ||
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | inhibitor | CHEMBL3545063 | OSIMERTINIB MESYLATE | |
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | inhibitor | CHEMBL1645462 | AC-480 | |
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | AC480 | AC-480 | ||
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | antibody | PERTUZUMAB | PERTUZUMAB | |
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | trastuzumab emtansine | |||
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | GEMCITABINE | GEMCITABINE | 15581051 | |
2064 | ERBB2 | KINASE, DRUGGABLE GENOME, CLINICALLY ACTIONABLE, DRUG RESISTANCE, TYROSINE KINASE | Neratinib | NERATINIB | 28274957,28679771,22908275,26874901,23953056,28363995,26333383,27078022,28539475,24323026,23220880,27697991,26243863 |
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