HsaEX6065616 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26663685-26682034:-
Coord C1 exon
chr12:26681874-26682034
Coord A exon
chr12:26665910-26666051
Coord C2 exon
chr12:26663685-26663846
Length
142 bp
Sequences
Splice sites
3' ss Seq
TCCTTTTCATTTTGTAATAGGTT
3' ss Score
9.47
5' ss Seq
CAGGTGAAT
5' ss Score
6.6
Exon sequences
Seq C1 exon
ATTGGAACCTGCCAAACCAAAGAAGATAAAGAAGCGTTCGCAATCGTGTCTGTTCCACTGTCTGAAGTTCGAGACTTAGACTTTGCCAATGATGCCAATAAAGTACTAGCGACCACAGTTAAAAAGCTAGAAAACGGCACAATAACTCAGAATGAAAGGAG
Seq A exon
GTTTGTAACCAAATTATTGGAAGATCTCATATTCTTTGTTGCTGATGTGCCTAATAATGGACAAGAAGTTCTGGATGTGGTTATCACTAAGCCAAACCGAGAGCGTCAAAAATTGATGAGGGAACAAAACATACTGGCACAG
Seq C2 exon
GTATTTGGAATTCTTAAAGCACCCTTTAAAGAGAAAGCAGGAGAAGGCTCGATGCTGAGACTTGAAGATCTGGGGGATCAAAGATATGCACCCTACAAGTACATGCTGCGGCTCTGTTACCGCGTCCTGAGACACTCGCAGCAGGATTACCGGAAAAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'49-49,'49-47,53-49
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.037 A=0.021 C2=0.000
Domain overlap (PFAM):
C1:
PF0281514=MIR=PD(7.5=27.8)
A:
PF0136516=RYDR_ITPR=PU(22.2=95.8)
C2:
PF0136516=RYDR_ITPR=FE(25.6=100)
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:
TCGCAATCGTGTCTGTTCCAC
R:
TAACAGAGCCGCAGCATGTAC
Band lengths:
243-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains