HsaEX6065621 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26653976-26656548:-
Coord C1 exon
chr12:26656297-26656548
Coord A exon
chr12:26655708-26655852
Coord C2 exon
chr12:26653976-26654126
Length
145 bp
Sequences
Splice sites
3' ss Seq
TCTTCTTTCTCTATTTCCAGATA
3' ss Score
11.79
5' ss Seq
GAGGTACTT
5' ss Score
7.82
Exon sequences
Seq C1 exon
GTACCAGCTAAACCTCTTTGCAAGGATGTGCTTGGATCGCCAGTATCTGGCCATAAACCAGATTTCTACACAGCTGTCTGTAGACCTGATCCTGCGGTGTGTGTCGGATGAGAGCCTGCCGTTCGACCTCCGAGCGTCCTTCTGTCGCCTCATGCTCCACATGCACGTTGACCGGGATCCCCAGGAGTCCGTGGTGCCTGTTCGCTATGCCAGGCTCTGGACAGAAATCCCCACAAAGATCACAATTCATGA
Seq A exon
ATATGATTCTATAACAGACTCTTCCAGAAATGATATGAAGAGGAAATTTGCCCTGACAATGGAATTTGTTGAAGAATATTTGAAAGAAGTTGTAAACCAGCCCTTTCCTTTTGGGGATAAAGAAAAAAATAAACTGACATTTGAG
Seq C2 exon
GTGGTCCACTTGGCTCGGAATCTTATATACTTTGGATTTTATAGTTTCAGTGAGTTATTAAGGCTAACAAGAACACTTCTGGCTATTTTAGACATTGTACAGGCCCCCATGTCATCATACTTTGAAAGATTAAGCAAATTTCAAGATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'62-61,'62-60,63-61=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
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAAGGATGTGCTTGGATCG
R:
AAGATTCCGAGCCAAGTGGAC
Band lengths:
258-403
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains