Special

HsaINT0032829 @ hg19

Intron Retention

Gene
Description
CMT1A duplicated region transcript 1 [Source:HGNC Symbol;Acc:14379]
Coordinates
chr17:15517147-15519123:-
Coord C1 exon
chr17:15518959-15519123
Coord A exon
chr17:15517348-15518958
Coord C2 exon
chr17:15517147-15517347
Length
1611 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
TTTCTCCGGCTTCACTCTAGAGG
3' ss Score
7.37
Exon sequences
Seq C1 exon
GGCTCAATCAAGACATCACAGATGTGTGTTTTTCCCCTGAGAAAGACCACAGCTCCAAGTCTGCGACCTCACAAGTCTATTGGACAGCCAAAACTCAGCACACATCCCTTCCTTTGTCCAAAGCCCCAGAAAATGAACACTTCCTTGGGGCAGCATCTAACCCTG
Seq A exon
GTAAGTGAACTTTCAGCAAGAAAGCCAATATGGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGCAGTGGCAGGCACCTGTAGTCCCAGCTACTGAGGCAGCAGAAGGGCGTGAAGCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGCCAATATGCAACCAATGTGAGATTGGGAAGACCCAGTGGAACTGGAGGGGCTGGCAGGGTGATAGCATCTGGGGATGGCAGATTTGAGGAACTCACATTCATTTAGCATCTACAATGTGCTGGGCTCTTTGACATTACTTTCCCATCTAATTCTCACAGCTGGTAAGGGGAGGAGCAAGGATTAAATTGATCAATATGGCCCCCAAACCCATATTTGCACCTCTCCGCTGCAGTGCCCACAAGACACATCTGAAAATAGAGATCAGAAAGGAAACTATCAATGATTTCCTTTGGAGTCTTTCTCTGCTCTGGGCCACAATCCATCATCTAGTCCCTGGGCTCTGGCATGGTGGCCAGCTCTAGAATTAAACCCACCAATGGCTATTTTTGCAGTATTGGATTCAGTCTTGAGGAGGGAACAAAACTAATGGGGAATTTGGTTCCCCACCTCAAGGCACTCCTAAGTTGGGAACTGAAGCAAGACATATACATGAAATATCATCGGAAACACAATATCGTAGGAAATACAAGGCATAGATTCTAAAACACTTTTATATGGAAAATTTCAAATTTCAAAAGTATGTAGAACAGTATGATAACCACCCACCCACATAGCACTGGCTTCAACAATTATCAACACTTTACCAATTTTATTCCATTCATTTTCCCCCCTTTCTTAAGTTGTTTAAAATTTTTTCTTGTTGGAGTATTTTTAAGAAAATTCCAGGCACAATATCATTTCAGACTCTGATACTCTAGACTTCTCCTTGGGCTGAAAAAGCTGAAAAGCACATGTATATTTGGGTCAAAAGATTCTATTCTCGGCCGGGTGCAGTGCCTCACGCCTGTAATCCCAGCACTTTGGCAGGCTGAGGCGGGCGGATCACACGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGCCTCTACTAAAAAAAAAAATACAAAAAATTAGTCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAGATTCTATTCTCAAGTGGCAGAAGAGATGACAAAAATCTAGTGGCCTAAGGTTAGAGTCTGAGGAGGTTTATTTTGTGGGAGAGCTTTTGGTGGGGACTTGTTCTCGGCCTGGAGTTTCTACAGAGCCAACTCAACCACGTACCTTTCTCCGGCTTCACTCTAG
Seq C2 exon
AGGAACCATGGAGGAATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCTGGAAAAGCAGACATAACCAAGCCAGGGTACGATCCCTGCAATCTATTGGTTGACCTGGATGACATCAGAGACCTGTCTTCTGGGTTCAGCAAATACCGAGACTTCATCCGTTACCTGCCCATCCACCTCTCCAAGTACATTCTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000241322-CDRT1:NM_006382:2
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

No protein impact description available

No structure available
Features
Disorder rate (Iupred):
  C1=0.062 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0064628=F-box=PU(31.8=20.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGATGTGTGTTTTTCCCCTGA
R:
TGTACTTGGAGAGGTGGATGGG
Band lengths:
343-1954
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]