HsaEX0032590 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26716144-26722555:-
Coord C1 exon
chr12:26722397-26722555
Coord A exon
chr12:26721286-26721342
Coord C2 exon
chr12:26716144-26716242
Length
57 bp
Sequences
Splice sites
3' ss Seq
ATACAAATTCAATTCCACAGGAT
3' ss Score
6.38
5' ss Seq
TTGGTAAGG
5' ss Score
8.92
Exon sequences
Seq C1 exon
CTACTGCATATAAAAAGCAACAAATATCTTACTGTCAACAAGAGATTACCTGCTTTACTGGAGAAGAATGCCATGCGTGTGTCCTTGGATGCTGCAGGAAATGAAGGGTCTTGGTTTTATATTCATCCGTTCTGGAAACTGAGAAGCGAGGGTGACAAT
Seq A exon
GATGCAAGCTTCTGGATTTAATTTGGTTAATAAATTATCTGGTGATATCTTCCTTTG
Seq C2 exon
ATTGTTGTAGGAGATAAAGTTGTTTTGATGCCTGTGAATGCAGGGCAGCCACTACATGCCAGCAACATAGAGCTTCTTGATAACCCAGGGTGTAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104_MULTIEX2-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF087096=Ins145_P3_rec=FE(29.9=100)
A:
PF087096=Ins145_P3_rec=PD(0.6=14.3)
C2:
PF087096=Ins145_P3_rec=FE(14.2=100)
Main Inclusion Isoform:
ENST00000381340fB3476
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGCAGGAAATGAAGGGTC
R:
AGCTCTATGTTGCTGGCATGT
Band lengths:
144-201
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