HsaEX6065639 @ hg19
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26636631-26640184:-
Coord C1 exon
chr12:26640001-26640184
Coord A exon
chr12:26639037-26639293
Coord C2 exon
chr12:26636631-26636831
Length
257 bp
Sequences
Splice sites
3' ss Seq
AAGTACTGCTTTGTTTTCAGTAA
3' ss Score
4.8
5' ss Seq
CAGGTATTT
5' ss Score
7.51
Exon sequences
Seq C1 exon
TATTCTTTCTACCAGCAGTTGCATGAACAAAAAAAGTCAGAAAAATTCTTTAAAGTTCTCTATGATCGAATGAAGGCTGCTCAGAAAGAAATAAGATCAACAGTGACAGTTAATACCATAGATTTAGGTAACAAAAAAAGGGACGATGACAATGAATTGATGACATCTGGTCCACGAATGAGAG
Seq A exon
TAAGAGATTCAACACTACATTTAAAAGAGGGAATGAAAGGGCAATTAACAGAAGCTTCTTCAGCAACATCCAAAGCATATTGTGTATACAGAAGAGAAATGGATCCAGAAATAGACATTATGTGCACAGGACCAGAAGCGGGAAACACTGAGGAAAAATCCGCAGAGGAAGTAACAATGAGTCCCGCAATTGCCATCATGCAGCCAATACTGAGATTTCTTCAGTTACTGTGTGAGAATCACAACCGGGAATTGCAG
Seq C2 exon
AACTTCTTGAGGAATCAAAACAACAAAACAAATTACAACCTAGTCTGTGAGACCCTTCAGTTTCTGGACTGCATTTGTGGAAGTACAACCGGTGGCCTGGGCCTGTTGGGTCTCTACATCAATGAGAAGAATGTAGCGCTGGTCAACCAGAACCTGGAGAGCTTGACTGAGTATTGCCAGGGCCCTTGCCATGAAAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'56-57,'56-56,58-57=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.332 A=0.291 C2=0.015
Domain overlap (PFAM):
C1:
PF0138316=CpcD=PD(78.6=53.2)
A:
PF084546=RIH_assoc=PU(24.2=33.7)
C2:
PF084546=RIH_assoc=FE(55.0=100)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATCGAATGAAGGCTGCTCA
R:
ACTCAGTCAAGCTCTCCAGGT
Band lengths:
294-551
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)