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DSG2-AS1 (DSG2 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with DSG2-AS1 include Cardiomyopathy, Dilated, 1Bb and Arrhythmogenic Right Ventricular Dysplasia, Familial, 10.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J031555 | Enhancer | 0.8 | Ensembl ENCODE | 250.7 | +0.8 | 820 | 0.6 | CTCF REST TRIM22 SMC3 RAD21 ZNF189 RB1 ZNF362 ZNF384 ZNF143 | DSG2-AS1 TTR B4GALT6 TRAPPC8 ENSG00000266521 HSALNG0120734 DSG2 | |
GH18J031554 | Enhancer | 0.5 | Ensembl | 250.7 | +1.9 | 1947 | 0.4 | RXRA REST SP1 HNF4A YY1 | DSG2-AS1 B4GALT6 TRAPPC8 TTR HSALNG0120734 DSG2 | |
GH18J031556 | Promoter | 0.3 | EPDnew | 250.7 | 0.0 | -20 | 0.1 | DSG2-AS1 TTR B4GALT6 TRAPPC8 DSG2 | ||
GH18J031510 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 0.3 | +45.3 | 45322 | 6 | MXD4 CEBPA FOXA1 MNT BHLHE40 CTCF HOMEZ KDM6A THAP11 CEBPB | HSALNG0120734 ENSG00000266521 B4GALT6 DSG2 DSC3 DSG1 DSC2 DSG2-AS1 TTR | |
GH18J031549 | Enhancer | 0.6 | Ensembl ENCODE | 0.4 | +7.4 | 7447 | 1 | RBM22 PRDM6 PKNOX1 PHF21A | DSG2-AS1 TTR HSALNG0120734 DSG2 |
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS00005DB14C_9606 | lncRNA | 814 | 4 |
Ensembl: ENST00000579251 (view in UCSC) , LncBook: HSALNT0249615, LNCipedia: DSG2-AS1:4, NONCODE: NONHSAT058826.2, |
URS00002283A5_9606 | lncRNA | 2030 | 3 |
Ensembl: ENST00000583706 (view in UCSC) , LNCipedia: DSG2-AS1:2, NONCODE: NONHSAT058823.2, |
URS000075E03B_9606 | lncRNA | 1986 | 1 |
RefSeq: NR_045216, |
URS0000EEC028_9606 | lncRNA | 1254 | 1 |
Ensembl: ENST00000657343 (view in UCSC) , |
URS0000EF3402_9606 | lncRNA | 1209 | 1 |
Ensembl: ENST00000664179 (view in UCSC) , |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835133 | Uncertain Significance: Arrhythmogenic right ventricular cardiomyopathy, type 10 | 31,546,216(-) |
T/C NM_001943.5(DSG2):c.2830T>C (p.Ser944Pro) |
MISSENSE | |
835215 | Pathogenic: Arrhythmogenic right ventricular cardiomyopathy, type 10 | 31,546,003(-) |
CA/C NM_001943.5(DSG2):c.2620del (p.Thr874fs) |
FRAMESHIFT | |
835821 | Uncertain Significance: Arrhythmogenic right ventricular cardiomyopathy, type 10 | 31,546,666(-) |
G/C NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg) |
MISSENSE | |
835905 | Conflicting Interpretations: Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 10 | 31,546,591(-) |
A/G NM_001943.5(DSG2):c.3205A>G (p.Met1069Val) |
MISSENSE | |
836109 | Uncertain Significance: Arrhythmogenic right ventricular cardiomyopathy, type 10 | 31,545,833(-) |
T/A NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Disorder | Aliases | PubMed IDs |
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cardiomyopathy, dilated, 1bb |
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arrhythmogenic right ventricular dysplasia, familial, 10 |
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dilated cardiomyopathy |
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familial isolated dilated cardiomyopathy |
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arrhythmogenic right ventricular cardiomyopathy |
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