About Enhancer

Enhancer ID: E_01_0435
Species: human
Position : chr4:54654583-54656583
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Gastrointestinal stromal tumor (gist)
Pubmed ID:  29866822
Enhancer experiment: Transfection,RNA-Seq,ATAC-seq,ChIP-Seq,Quantitative RT-PCR,Cloning,CRISPR Assays,Immunoblotting
Enhancer experiment description: Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.

About Target gene

Target gene : --
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.;Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.;Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.

About TF

TF name : KITPDGFRAHAND1
TF experiment: Transfection,RNA-Seq,ATAC-seq,ChIP-Seq,Quantitative RT-PCR,Cloning,CRISPR Assays,Immunoblotting
TF experiment description: Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.;Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.;Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.

About Function

Enhancer function : Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
KIT AKT(PKB)-Bad signaling ( EPO signaling pathway(JAK2 STAT1 STAT3 STAT5) ) inoh 173
KIT AKT(PKB)-Bad signaling ( IL-7 signaling(JAK1 JAK3 STAT5) ) inoh 173
KIT C-MYB transcription factor network pid 87
KIT Constitutive Signaling by Aberrant PI3K in Cancer reactome 61
KIT Drosophila Toll-like receptor signaling ( Drosophila Toll-like receptor signaling ) inoh 236
KIT EGFR1 netpath 475
KIT KitReceptor netpath 104
KIT PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling reactome 83
KIT PIP3 activates AKT signaling reactome 81
KIT Positive regulation of (Transcription of SOCS by STAT dimer) in JAK STAT pathway ( JAK-STAT pathway and regulation pathway Diagram ) inoh 178
KIT RAF/MAP kinase cascade reactome 116
KIT Regulation of KIT signaling reactome 16
KIT Signaling by SCF-KIT reactome 37
KIT Signaling events mediated by Stem cell factor receptor (c-Kit) pid 53
KIT VEGF signaling pathway ( VEGF signaling pathway ) inoh 183
KIT Cytokine-cytokine receptor interaction kegg 213
KIT Endocytosis kegg 201
KIT Melanogenesis kegg 100
KIT Pathways in cancer kegg 321
KIT Acute myeloid leukemia kegg 53
KIT Hs_Kit_receptor_signaling_pathway_WP304_78799 wikipathways 46
PDGFRA AKT(PKB)-Bad signaling ( EPO signaling pathway(JAK2 STAT1 STAT3 STAT5) ) inoh 173
PDGFRA AKT(PKB)-Bad signaling ( IL-7 signaling(JAK1 JAK3 STAT5) ) inoh 173
PDGFRA Angiogenesis panther 141
PDGFRA ATF-2 transcription factor network pid 59
PDGFRA Constitutive Signaling by Aberrant PI3K in Cancer reactome 61
PDGFRA Downstream signal transduction reactome 29
PDGFRA Drosophila Toll-like receptor signaling ( Drosophila Toll-like receptor signaling ) inoh 236
PDGFRA PDGF receptor signaling network pid 6
PDGFRA PDGF signaling pathway ( PDGF signaling pathway ) inoh 15
PDGFRA PDGF signaling pathway (Mammal) ( PDGF signaling pathway ) inoh 29
PDGFRA PDGF signaling pathway panther 113
PDGFRA PDGFR-alpha signaling pathway pid 22
PDGFRA PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling reactome 83
PDGFRA PIP3 activates AKT signaling reactome 81
PDGFRA Positive regulation of (Transcription of SOCS by STAT dimer) in JAK STAT pathway ( JAK-STAT pathway and regulation pathway Diagram ) inoh 178
PDGFRA RAF/MAP kinase cascade reactome 116
PDGFRA Signaling by PDGF reactome 27
PDGFRA VEGF signaling pathway ( VEGF signaling pathway ) inoh 183
PDGFRA MAPK signaling pathway kegg 264
PDGFRA Calcium signaling pathway kegg 173
PDGFRA Cytokine-cytokine receptor interaction kegg 213
PDGFRA Endocytosis kegg 201
PDGFRA Focal adhesion kegg 197
PDGFRA Gap junction kegg 87
PDGFRA Regulation of actin cytoskeleton kegg 210
PDGFRA Pathways in cancer kegg 321
PDGFRA Glioma kegg 65
PDGFRA Prostate cancer kegg 85
PDGFRA Melanoma kegg 69
PDGFRA Hs_Angiogenesis_WP1539_88983 wikipathways 17
HAND1 Hs_Heart_Development_WP1591_90186 wikipathways 28
HAND1 Hs_Mesodermal_Commitment_Pathway_WP2857_87780 wikipathways 47

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs