HsaEX0032589 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26631866-26655852:-
Coord C1 exon
chr12:26655708-26655852
Coord A exon
chr12:26653976-26654126
Coord C2 exon
chr12:26631866-26632059
Length
151 bp
Sequences
Splice sites
3' ss Seq
GCTTTTTTTTTTTTATTAAGGTG
3' ss Score
8.66
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
ATATGATTCTATAACAGACTCTTCCAGAAATGATATGAAGAGGAAATTTGCCCTGACAATGGAATTTGTTGAAGAATATTTGAAAGAAGTTGTAAACCAGCCCTTTCCTTTTGGGGATAAAGAAAAAAATAAACTGACATTTGAG
Seq A exon
GTGGTCCACTTGGCTCGGAATCTTATATACTTTGGATTTTATAGTTTCAGTGAGTTATTAAGGCTAACAAGAACACTTCTGGCTATTTTAGACATTGTACAGGCCCCCATGTCATCATACTTTGAAAGATTAAGCAAATTTCAAGATGGAG
Seq C2 exon
GAAACAATGTGATGAGAACCATTCATGGGGTGGGAGAGATGATGACCCAGATGGTACTCAGTAGAGGCTCCATCTTCCCCATGAGCGTGCCGGATGTGCCACCCAGCATCCACCCGAGCAAGCAAGGGAGCCCCACCGAGCACGAGGATGTGACTGTGATGGACACCAAGCTGAAGATCATTGAGATTTTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104_CASSETTE9
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.231
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCCTGACAATGGAATTTGT
R:
CACAGTCACATCCTCGTGCTC
Band lengths:
255-406
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