HsaEX0032581 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26443543-26475418:-
Coord C1 exon
chr12:26475296-26475418
Coord A exon
chr12:26445063-26445130
Coord C2 exon
chr12:26443543-26443650
Length
68 bp
Sequences
Splice sites
3' ss Seq
CTCTTTCTTTCATGCCCCAGATC
3' ss Score
9.47
5' ss Seq
AAGGTACCT
5' ss Score
8.49
Exon sequences
Seq C1 exon
GTGGATGTGATGAAGAATGCCTATAACCAAGGATTGGAATGTGACCATGGGGATGATGAGGGTGGAGATGATGGTGTTTCTCCAAAAGATGTTGGACACAATATCTATATTCTGGCCCATCAG
Seq A exon
ATCCAGTCAGCAAACAAATCATGCCAGTTTTGCCTTCAAGAACTGGCCACTTCTTAAAACATGCTAAG
Seq C2 exon
TTGGCCCGCCACAATAAACTGTTGCAGCAGATGCTCAAACCAGGATCGGATCCAGATGAAGGAGATGAAGCCTTAAAGTATTATGCCAACCACACTGCACAGATTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.335 A=0.000 C2=0.389
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000381340fB3473
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
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:
ATGGGGATGATGAGGGTGGAG
R:
CTGTGCAGTGTGGTTGGCATA
Band lengths:
179-247
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