HsaEX6065639 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26483698-26487251:-
Coord C1 exon
chr12:26487068-26487251
Coord A exon
chr12:26486104-26486360
Coord C2 exon
chr12:26483698-26483898
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-'104-111,'104-109,107-111=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=0.324 A=0.291 C2=0.015
Domain overlap (PFAM):
C1:
NO
A:
PF084546=RIH_assoc=PU(24.2=33.7)
C2:
PF084546=RIH_assoc=FE(55.0=100)
Other Inclusion Isoforms:
NA
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