| Enhancer ID: | E_01_0777 |
| Species: | human |
| Position : | chr14:92920852-92922852 |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Type 1 diabetes (t1d) |
| Pubmed ID: | 30078552 |
| Enhancer experiment: | RNA SEQ, immunofluorescence staining, HLA-A2 binding assays |
| Enhancer experiment description: | Most islet antigens (Ags), namely insulin (INS) and its precursor preproinsulin (PPI), glutamic acid decarboxylase (GAD65/ GAD2), islet Ag (IA)-2 (PTPRN) (Mallone et al., 2007; Martinuzzi et al., 2008), and zinc transporter 8 (ZnT8/SLC30A8) (Scotto et al., 2012), have been identified based on their targeting by autoantibodies (aAbs). Other Ags such as islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) (Mallone et al., 2007), chromogranin A (CHGA) (Li et al., 2015), and islet amyloid polypeptide (IAPP) (Standifer et al., 2006) have been identified based on studies in the non-obese dia- betic mouse and/or its islet-enriched expression. |
| Target gene : | PTPRN |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Most islet antigens (Ags), namely insulin (INS) and its precursor preproinsulin (PPI), glutamic acid decarboxylase (GAD65/ GAD2), islet Ag (IA)-2 (PTPRN) (Mallone et al., 2007; Martinuzzi et al., 2008), and zinc transporter 8 (ZnT8/SLC30A8) (Scotto et al., 2012), have been identified based on their targeting by autoantibodies (aAbs). Other Ags such as islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) (Mallone et al., 2007), chromogranin A (CHGA) (Li et al., 2015), and islet amyloid polypeptide (IAPP) (Standifer et al., 2006) have been identified based on studies in the non-obese dia- betic mouse and/or its islet-enriched expression.;Most islet antigens (Ags), namely insulin (INS) and its precursor preproinsulin (PPI), glutamic acid decarboxylase (GAD65/ GAD2), islet Ag (IA)-2 (PTPRN) (Mallone et al., 2007; Martinuzzi et al., 2008), and zinc transporter 8 (ZnT8/SLC30A8) (Scotto et al., 2012), have been identified based on their targeting by autoantibodies (aAbs). Other Ags such as islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) (Mallone et al., 2007), chromogranin A (CHGA) (Li et al., 2015), and islet amyloid polypeptide (IAPP) (Standifer et al., 2006) have been identified based on studies in the non-obese dia- betic mouse and/or its islet-enriched expression. |
| TF name : | CHGA |
| TF experiment: | RNA-Seq,??????,HLA-A2 Binding Assays |
| TF experiment description: | Most islet antigens (Ags), namely insulin (INS) and its precursor preproinsulin (PPI), glutamic acid decarboxylase (GAD65/ GAD2), islet Ag (IA)-2 (PTPRN) (Mallone et al., 2007; Martinuzzi et al., 2008), and zinc transporter 8 (ZnT8/SLC30A8) (Scotto et al., 2012), have been identified based on their targeting by autoantibodies (aAbs). Other Ags such as islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) (Mallone et al., 2007), chromogranin A (CHGA) (Li et al., 2015), and islet amyloid polypeptide (IAPP) (Standifer et al., 2006) have been identified based on studies in the non-obese dia- betic mouse and/or its islet-enriched expression.;Most islet antigens (Ags), namely insulin (INS) and its precursor preproinsulin (PPI), glutamic acid decarboxylase (GAD65/ GAD2), islet Ag (IA)-2 (PTPRN) (Mallone et al., 2007; Martinuzzi et al., 2008), and zinc transporter 8 (ZnT8/SLC30A8) (Scotto et al., 2012), have been identified based on their targeting by autoantibodies (aAbs). Other Ags such as islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) (Mallone et al., 2007), chromogranin A (CHGA) (Li et al., 2015), and islet amyloid polypeptide (IAPP) (Standifer et al., 2006) have been identified based on studies in the non-obese dia- betic mouse and/or its islet-enriched expression. |
| Enhancer function : | Most islet antigens (Ags), namely insulin (INS) and its precursor preproinsulin (PPI), glutamic acid decarboxylase (GAD65/ GAD2), islet Ag (IA)-2 (PTPRN) (Mallone et al., 2007; Martinuzzi et al., 2008), and zinc transporter 8 (ZnT8/SLC30A8) (Scotto et al., 2012), have been identified based on their targeting by autoantibodies (aAbs). Other Ags such as islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) (Mallone et al., 2007), chromogranin A (CHGA) (Li et al., 2015), and islet amyloid polypeptide (IAPP) (Standifer et al., 2006) have been identified based on studies in the non-obese dia- betic mouse and/or its islet-enriched expression. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Most islet antigens (Ags), namely insulin (INS) and its precursor preproinsulin (PPI), glutamic acid decarboxylase (GAD65/ GAD2), islet Ag (IA)-2 (PTPRN) (Mallone et al., 2007; Martinuzzi et al., 2008), and zinc transporter 8 (ZnT8/SLC30A8) (Scotto et al., 2012), have been identified based on their targeting by autoantibodies (aAbs). Other Ags such as islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) (Mallone et al., 2007), chromogranin A (CHGA) (Li et al., 2015), and islet amyloid polypeptide (IAPP) (Standifer et al., 2006) have been identified based on studies in the non-obese dia- betic mouse and/or its islet-enriched expression. |
| SNP ID: | -- |
| GeneName | Pathway Name | Source | Gene Number |
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