HsaEX6065624 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26622240-26628162:-
Coord C1 exon
chr12:26628033-26628162
Coord A exon
chr12:26624299-26624356
Coord C2 exon
chr12:26622240-26622405
Length
58 bp
Sequences
Splice sites
3' ss Seq
TTTACCATTTATCTTTGCAGCTA
3' ss Score
10.07
5' ss Seq
AAGGTATAG
5' ss Score
7.98
Exon sequences
Seq C1 exon
TTTATCCTGAGTGTCAGACTGGATTATAGGATCTCATATATGCTGTCAATATATAAGAAGGAGTTTGGAGAGGACAATGACAATGCGGAGACATCTGCCAGTGGATCTCCAGACACTTTACTACCATCAG
Seq A exon
CTATTGTTCCTGATATAGATGAAATTGCAGCTCAGGCAGAAACTATGTTTGCGGGAAG
Seq C2 exon
AAAAGAAAAAAATCCAGTTCAACTTGACGATGAAGGAGGCAGGACGTTTTTACGGGTCCTCATTCATCTGATCATGCACGACTACCCGCCTTTGCTGTCTGGAGCCCTGCAGCTGTTGTTTAAGCACTTCAGCCAGAGGGCAGAGGTTTTACAGGCATTTAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104_CASSETTE8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.295 A=0.000 C2=0.107
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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGACATCTGCCAGTGGATC
R:
CGGGTAGTCGTGCATGATCAG
Band lengths:
132-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains