HsaEX0032578 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26486104-26494340:-
Coord C1 exon
chr12:26494153-26494340
Coord A exon
chr12:26487068-26487251
Coord C2 exon
chr12:26486104-26486360
Length
184 bp
Sequences
Splice sites
3' ss Seq
TAAAATATGTTTTCTTGCAGTAT
3' ss Score
7.79
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
Exon sequences
Seq C1 exon
GAAGCTTTTCTGGACAAGATTCAGATAAGATGGGGATATCAATGTCAGACATTCAGTGTCTGCTGGATAAAGAAGGTGCATCAGAACTTGTCATCGATGTTATAGTGAACACCAAAAATGACAGAATTTTTTCAGAAGGCATTTTCCTCGGCATTGCCTTGCTTGAAGGAGGAAATACACAAACACAG
Seq A exon
TATTCTTTCTACCAGCAGTTGCATGAACAAAAAAAGTCAGAAAAATTCTTTAAAGTTCTCTATGATCGAATGAAGGCTGCTCAGAAAGAAATAAGATCAACAGTGACAGTTAATACCATAGATTTAGGTAACAAAAAAAGGGACGATGACAATGAATTGATGACATCTGGTCCACGAATGAGAG
Seq C2 exon
TAAGAGATTCAACACTACATTTAAAAGAGGGAATGAAAGGGCAATTAACAGAAGCTTCTTCAGCAACATCCAAAGCATATTGTGTATACAGAAGAGAAATGGATCCAGAAATAGACATTATGTGCACAGGACCAGAAGCGGGAAACACTGAGGAAAAATCCGCAGAGGAAGTAACAATGAGTCCCGCAATTGCCATCATGCAGCCAATACTGAGATTTCTTCAGTTACTGTGTGAGAATCACAACCGGGAATTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'102-109,'102-107,104-109
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.001 A=0.324 C2=0.291
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF084546=RIH_assoc=PU(24.2=33.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGAAGGCATTTTCCTCGGC
R:
ATGGCAATTGCGGGACTCATT
Band lengths:
253-437
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development