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The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015]
DSCR4 (Down Syndrome Critical Region 4) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with DSCR4 include Down Syndrome and Gestational Choriocarcinoma.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH21J038120 | Promoter/Enhancer | 1.3 | EPDnew ENCODE | 600.7 | -0.3 | -302 | 1.5 | RFX1 LEF1 IKZF1 JUND DDX20 MTA2 PKNOX1 ZNF24 MTA1 BRD9 | DSCR4 DSCR8 KCNJ6 KCNJ15 piR-38051-177 | |
GH21J038058 | Enhancer | 0.3 | FANTOM5 | 8.2 | +63.0 | 62979 | 0.4 | WT1 | DSCR4 RF00017-3710 KCNJ6 LOC105372798 | |
GH21J038112 | Enhancer | 0.8 | ENCODE | 0.4 | +7.9 | 7911 | 2.4 | JUND DDX20 PKNOX1 REST ZNF24 BRD9 HDAC1 SOX6 TCF12 EP300 | KCNJ15 DSCR8 DSCR4 KCNJ6 RF00017-3710 LOC105372798 | |
GH21J038027 | Enhancer | 0.6 | Ensembl | 0.2 | +93.3 | 93260 | 0.6 | CREB1 ZNF629 JUND ZBTB11 GABPA FOSL1 KLF17 CREM ATF3 ATF1 | KCNJ6 RF00017-3710 DSCR4-IT1 DSCR4 LOC105372798 | |
GH21J038067 | Enhancer | 0.4 | ENCODE | 0.2 | +53.8 | 53798 | 0.2 | PKNOX1 POLR2A CREB1 | KCNJ15 RF00017-3710 DSCR4 KCNJ6 LOC105372798 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008150 | biological_process | ND | -- |
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS0000D622E9_9606 | lncRNA | 799 | 3 |
Ensembl: ENST00000482032 (view in UCSC) , LncBook: HSALNT0273456, LNCipedia: DSCR4:4, |
URS0000BC43FE_9606 | lncRNA | 1098 | 2 |
HGNC: 3045, RefSeq: NR_147130, |
URS0000D61C4A_9606 | lncRNA | 1098 | 2 |
Ensembl: ENST00000328264 (view in UCSC) , LNCipedia: DSCR4:2, |
URS0000D6429A_9606 | lncRNA | 777 | 2 |
Ensembl: ENST00000398948 (view in UCSC) , LNCipedia: DSCR4:3, |
URS0000E9B640_9606 | lncRNA | 805 | 1 |
LncBook: HSALNT0289478, |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - | - | - | - |
This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DSCR4 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1009477 | CNV | deletion | 20482838 |
esv1674631 | CNV | deletion | 17803354 |
esv2469159 | CNV | insertion | 19546169 |
esv2617743 | CNV | deletion | 19546169 |
esv2723414 | CNV | deletion | 23290073 |
esv3049345 | CNV | deletion | 24192839 |
esv3646997 | CNV | loss | 21293372 |
esv3893408 | CNV | loss | 25118596 |
esv4330 | CNV | loss | 18987735 |
nsv1058886 | CNV | gain | 25217958 |
nsv1126609 | CNV | deletion | 24896259 |
nsv474309 | CNV | novel sequence insertion | 20440878 |
nsv474785 | CNV | novel sequence insertion | 20440878 |
nsv513573 | CNV | insertion | 21212237 |
nsv834097 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
down syndrome |
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gestational choriocarcinoma |
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