HsaEX6065635 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26550247-26561952:-
Coord C1 exon
chr12:26561762-26561952
Coord A exon
chr12:26556233-26556375
Coord C2 exon
chr12:26550247-26550355
Length
143 bp
Sequences
Splice sites
3' ss Seq
TCTTGTGTTTCATTCCCTAGGAT
3' ss Score
11.84
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
Exon sequences
Seq C1 exon
CAAAAAATCGTGGAATTGCCATTCCAGTGGATTTGGACAGCCAAGTTAATACTCTTTTCATGAAGAGCCATTCAAATATGGTGCAGAGAGCAGCAATGGGTTGGAGACTATCAGCTCGCTCTGGGCCACGCTTTAAGGAAGCTCTTGGAGGGCCTGCTTGGGATTACAGAAATATTATTGAAAAGTTACAG
Seq A exon
GATGTAGTGGCCTCCTTGGAGCACCAGTTCAGCCCAATGATGCAGGCTGAATTCTCAGTGTTGGTTGATGTATTGTACAGTCCAGAACTGCTGTTCCCTGAGGGAAGCGATGCAAGAATAAGATGTGGCGCTTTCATGTCGAA
Seq C2 exon
GTTGATTAATCATACAAAGAAACTAATGGAGAAAGAAGAAAAACTGTGCATTAAAATTCTTCAGACATTACGAGAAATGTTAGAGAAGAAAGACAGCTTTGTGGAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'94-96,'94-93,95-96=AN
Average complexity
A_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=0.000
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:
TGCCATTCCAGTGGATTTGGA
R:
TGTCTGAAGAATTTTAATGCACAGT
Band lengths:
242-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains