HsaEX0032588 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26486104-26487251:-
Coord C1 exon
chr12:26487068-26487251
Coord A exon
chr12:26486817-26486933
Coord C2 exon
chr12:26486104-26486360
Length
117 bp
Sequences
Splice sites
3' ss Seq
GGCTCTGATCATCCATAAAGAAT
3' ss Score
1.32
5' ss Seq
ATGGTAAAT
5' ss Score
6.41
Exon sequences
Seq C1 exon
TATTCTTTCTACCAGCAGTTGCATGAACAAAAAAAGTCAGAAAAATTCTTTAAAGTTCTCTATGATCGAATGAAGGCTGCTCAGAAAGAAATAAGATCAACAGTGACAGTTAATACCATAGATTTAGGTAACAAAAAAAGGGACGATGACAATGAATTGATGACATCTGGTCCACGAATGAGAG
Seq A exon
AATTTTGGTCATGGGGTGACCCTAAAACGGCTCTGCAGGACTAAACTTAAATGAGACATAATCAGTGCAAAGCAACCAACGGCATGAAAGATGTTTGATTTCATTGTGGCATGCATG
Seq C2 exon
TAAGAGATTCAACACTACATTTAAAAGAGGGAATGAAAGGGCAATTAACAGAAGCTTCTTCAGCAACATCCAAAGCATATTGTGTATACAGAAGAGAAATGGATCCAGAAATAGACATTATGTGCACAGGACCAGAAGCGGGAAACACTGAGGAAAAATCCGCAGAGGAAGTAACAATGAGTCCCGCAATTGCCATCATGCAGCCAATACTGAGATTTCTTCAGTTACTGTGTGAGAATCACAACCGGGAATTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.324 A=0.071 C2=0.291
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF084546=RIH_assoc=PU(24.2=33.7)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGAATGAAGGCTGCTCAGAA
R:
GCTTCTGGTCCTGTGCACATA
Band lengths:
258-375
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development