HsaEX6065637 @ hg19
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26647086-26703288:-
Coord C1 exon
chr12:26703180-26703288
Coord A exon
chr12:26648085-26648193
Coord C2 exon
chr12:26647086-26647273
Length
109 bp
Sequences
Splice sites
3' ss Seq
TTTGTTATCCTTCTTATTAGGGT
3' ss Score
8.74
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
GTTGATTAATCATACAAAGAAACTAATGGAGAAAGAAGAAAAACTGTGCATTAAAATTCTTCAGACATTACGAGAAATGTTAGAGAAGAAAGACAGCTTTGTGGAAGAG
Seq A exon
GGTAACACATTAAGAAAGATACTTCTGAATCGATACTTTAAAGGTGATTATAGTATTGGTGTGAATGGACACCTATCAGGAGCCTACTCCAAAACTGCACAGGTGGGAG
Seq C2 exon
GAAGCTTTTCTGGACAAGATTCAGATAAGATGGGGATATCAATGTCAGACATTCAGTGTCTGCTGGATAAAGAAGGTGCATCAGAACTTGTCATCGATGTTATAGTGAACACCAAAAATGACAGAATTTTTTCAGAAGGCATTTTCCTCGGCATTGCCTTGCTTGAAGGAGGAAATACACAAACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'50-52,'50-51,53-52=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:
PF0138316=CpcD=PU(16.7=25.9)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGAGAAAGAAGAAAAACTGTGCA
R:
GGCAATGCCGAGGAAAATGC
Band lengths:
242-351
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)