Difference between revisions of "HDHD5-AS1"

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==Annotated Information==
 
==Annotated Information==
 
===Approved Symbol===
 
===Approved Symbol===
HDHD5-AS1 (HDHD5 antisense RNA 1)
+
HDHD5-AS1: HDHD5 antisense RNA 1
 
===Previous Symbols===
 
===Previous Symbols===
"CECR4, CECR5-AS1"
+
CECR4, CECR5-AS1
 
===Synonyms===
 
===Synonyms===
 
NCRNA00017
 
NCRNA00017
 
===Chromosome===
 
===Chromosome===
 
22q11.1
 
22q11.1
 +
[[File: Genomic structure of the genes in the CES critical region (CESCR).jpg|right|thumb|400px|'''Genomic structure of the genes in the CES critical region (CESCR).''' <ref name="ref1" />.]]
 
===RefSeq ID===
 
===RefSeq ID===
 
NR_024483
 
NR_024483
  
 
===Characteristics===
 
===Characteristics===
The distance between HDHD5-AS1 and the adjacent gene CECR5 is at least 99 bp <ref name="ref1" />.
+
CECR4 is adjacent to the human CES (Cat Eye Syndrome) critical region (CESCR), and at least 99 bp of overlap exists between CECR4 and the proximally adjacent gene, CECR5, which is transcribed in the opposite direction <ref name="ref1" />.
HDHD5-AS1 is considered to be an unprocessed pseudogene <ref name="ref1" />.
 
[[File: Genomic structure of the genes in the CES critical region (CESCR).jpg|right|thumb|400px|'''Genomic structure of the genes in the CES critical region (CESCR).''' <ref name="ref1" />.]]
 
  
 
===Conservation===
 
===Conservation===
 
The sequences of exon 1 of HDHD5-AS1 is conserved in human and mouse <ref name="ref1" />.
 
The sequences of exon 1 of HDHD5-AS1 is conserved in human and mouse <ref name="ref1" />.
 +
 +
===Function===
 +
CECR4 is adjacent to the human Cat Eye Syndrome critical region, and it may be involved in Cat Eye Syndrome <ref name="ref1" />.
  
 
===Disease===
 
===Disease===
cat eye syndrome
+
Cat Eye Syndrome <ref name="ref1" />
  
 
===Expression===
 
===Expression===
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| | Testis
 
| | Testis
 
|-
 
|-
| rowspan="1"|CECR4
+
| rowspan="1"|CECR4 (HDHD5-AS1)
 
| |cDNA 321686  
 
| |cDNA 321686  
 
| | 7
 
| | 7
| | Adult heart and skeletal muscle, all fetal  tissues tested
+
| | Adult heart and skeletal muscle, all fetal tissues tested
 
|-
 
|-
 
| rowspan="2"|CECR3
 
| rowspan="2"|CECR3
 
| |cDNA
 
| |cDNA
 
| | 2.4 and 3.7
 
| | 2.4 and 3.7
| | 2.4 kb—predominantly in lung;  3.7 kg—weakly in all tissues
+
| | 2.4 kb—predominantly in lung; 3.7 kg—weakly in all tissues
 
|}
 
|}
  
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==References==
 
==References==
 
<references>
 
<references>
<ref name="ref1"> Footz, T.K., et al., Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (1088-9051 (Print)).
+
<ref name="ref1"> Footz, T.K., Brinkman-Mills, P., Banting, G.S., Maier, S.A., Riazi, M.A., Bridgland, L., Hu, S., Birren, B., Minoshima, S., Shimizu, N. et al. (2001) Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Genome Res, 11, 1053-1070.</ref>(1)
</ref>(1)
 

Latest revision as of 08:34, 28 September 2017

Annotated Information

Approved Symbol

HDHD5-AS1: HDHD5 antisense RNA 1

Previous Symbols

CECR4, CECR5-AS1

Synonyms

NCRNA00017

Chromosome

22q11.1

Genomic structure of the genes in the CES critical region (CESCR). [1].

RefSeq ID

NR_024483

Characteristics

CECR4 is adjacent to the human CES (Cat Eye Syndrome) critical region (CESCR), and at least 99 bp of overlap exists between CECR4 and the proximally adjacent gene, CECR5, which is transcribed in the opposite direction [1].

Conservation

The sequences of exon 1 of HDHD5-AS1 is conserved in human and mouse [1].

Function

CECR4 is adjacent to the human Cat Eye Syndrome critical region, and it may be involved in Cat Eye Syndrome [1].

Disease

Cat Eye Syndrome [1]

Expression

Gene name Probe used Size of transcript(s) in kb Tissues showing expression
CECR8 cDNA 1840041 1.4 Testis
CECR4 (HDHD5-AS1) cDNA 321686 7 Adult heart and skeletal muscle, all fetal tissues tested
CECR3 cDNA 2.4 and 3.7 2.4 kb—predominantly in lung; 3.7 kg—weakly in all tissues

Labs working on this lncRNA

  • Department of Biological Sciences, University of Alberta, Edmonton, Alberta T6G 2E9, Canada. [1]

References

<references>

[1](1)
  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Footz, T.K., Brinkman-Mills, P., Banting, G.S., Maier, S.A., Riazi, M.A., Bridgland, L., Hu, S., Birren, B., Minoshima, S., Shimizu, N. et al. (2001) Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Genome Res, 11, 1053-1070.