Special

HsaEX0066782 @ hg19

Exon Skipping

Gene
Description
transformer 2 beta homolog (Drosophila) [Source:HGNC Symbol;Acc:10781]
Coordinates
chr3:185643252-185655924:-
Coord C1 exon
chr3:185655613-185655924
Coord A exon
chr3:185644389-185644522
Coord C2 exon
chr3:185643252-185643414
Length
134 bp
Sequences
Splice sites
3' ss Seq
CTTTTAACATCTACGTGTAGGAA
3' ss Score
6.68
5' ss Seq
TAGGTAAGA
5' ss Score
9.14
Exon sequences
Seq C1 exon
GTGCGGGACGCGCTGCAGCTGGAGAGGAAAGGCAGAGCGAGGAGGGGCGAGGCCAAGAAAGCGCGCGTTTCTGGGAGGGGAGGAGCCTGGCTAAGGAGCGCCGCGTCACATCCGGTAGAGTTAGAGCCCGTGCGGAGGCGGTGCGGAGCATTTCGGCTCTGAGCGGCTGGGCGACCGGCGCGTCGTGCGGGGCTGCGGCGGAGCCTCCTTAAGGAAGGTGCAAGAGGTTGGCAGCTTCGATTGAAGCACATCGACCGGCGACAGCAGCCAGGAGTCATGAGCGACAGCGGCGAGCAGAACTACGGCGAGCGG
Seq A exon
GAATCCCGTTCTGCTTCCAGAAGTGGAAGTGCTCACGGATCGGGGAAATCTGCAAGGCATACCCCTGCAAGGTCTCGCTCCAAGGAAGATTCCAGGCGTTCCAGATCAAAGTCCAGGTCCCGATCTGAATCTAG
Seq C2 exon
GTCTAGATCCAGAAGAAGCTCCCGAAGGCATTATACCCGGTCACGGTCTCGCTCCCGCTCCCATAGACGATCACGTAGCAGGTCTTACAGTCGAGATTATCGTAGACGGCACAGCCACAGCCATTCTCCCATGTCTACTCGCAGGCGTCATGTTGGGAATCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136527_MULTIEX1-2/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.885 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGAAGGTGCAAGAGGTTGG
R:
CCTGCGAGTAGACATGGGAGA
Band lengths:
247-381
Functional annotations
There are 1 annotated functions for this event
PMID: 14709600
This event
Presence of the CLK2 kinase prevents the usage of exons 2 (HsaEX0066781) and 3 (HsaEX0066782), generating the htra2-beta3 mRNA. The resulting HTRA2-BETA3 protein lacks the first RS domain of HTRA2-BETA1, is expressed in several tissues and has no influence on tra2-beta splice site selection. It is proposed that the regulation of the tra2-beta pre-mRNA alternative splicing provides a robust and sensitive molecular sensor that measures the ratio between HTRA2-BETA1 and its interacting proteins.


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development