HsaEX0032582 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26427913-26439319:-
Coord C1 exon
chr12:26439127-26439319
Coord A exon
chr12:26436221-26436346
Coord C2 exon
chr12:26427913-26428088
Length
126 bp
Sequences
Splice sites
3' ss Seq
TTACATTTCTCACTTCCTAGATA
3' ss Score
8.57
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
Exon sequences
Seq C1 exon
ATTGTCCGGCATGATAGGACCATGGAACAAATAGTTTTTCCTGTCCCCAATATATGTGAATACCTCACTCGAGAATCCAAGTGCCGTGTGTTCAATACAACTGAAAGGGATGAACAAGGAAGTAAAGTGAATGACTTTTTCCAGCAAACAGAAGATCTCTACAATGAAATGAAGTGGCAGAAGAAAATCAGGA
Seq A exon
ATAACCCTGCACTGTTCTGGTTCTCGAGGCACATCTCTCTCTGGGGGAGCATTTCCTTCAACCTGGCTGTGTTCATCAATTTAGCTGTTGCTCTCTTCTACCCATTTGGGGATGATGGAGATGAAG
Seq C2 exon
GTACACTTTCTCCATTGTTCTCGGTTCTTCTTTGGATAGCAGTTGCGATCTGCACATCTATGCTGTTTTTCTTCTCCAAGCCTGTGGGTATTCGGCCGTTTCTTGTATCAATAATGCTCAGATCAATATATACAATAGGTCTTGGGCCTACATTAATACTTCTTGGTGCAGCTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'121-129,'121-126,123-129
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.031 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0052026=Ion_trans=PU(0.9=3.4)
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:
GTCCGGCATGATAGGACCATG
R:
CAGATCGCAACTGCTATCCAA
Band lengths:
242-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development