HsaEX0032591 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26725650-26833198:-
Coord C1 exon
chr12:26832690-26833198
Coord A exon
chr12:26790157-26790227
Coord C2 exon
chr12:26725650-26725765
Length
71 bp
Sequences
Splice sites
3' ss Seq
AAACATGCTTTTCCTTCTAGGTT
3' ss Score
9.76
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
CCCGCCGGGCGGCTGTGACGGCCGCAGCGGGTCGCAGAGCAGGGAGTGGACACGGAGTGGGGAGCGGAGAGGGAAGGAGGAGGAGGAGGAGCAAAGGTGTTGGAGAGAAAACTTCAGAAAGGAACAGGAAACCTGCCGGGGAGGCGGCGGCGGCTGCGGCTTCTCTGGGCGCCTGGGCTGCGCTCTTCGCGGGGTGTCCGCAGCTGCGGCTTGGCCCCGGTCTGGCTTCCCCGGCGCGCACGCACGGCTGAGCCGCGACGCTCAGTGGCTCGGGCCGTGCCCTCCGCCGCGGCTCTTGGCCGCTGTAGTCCCGCGATCCGATCCGCTTCTGCCGCGGCGGCTCCCTGGAGAGAGGGCGGCGAGGGCGCAGGGAAGAAGAGGGACGTCCACTGTGGAACATGAAGCAGCATGACTGAGAAAATGTCCAGCTTCCTCTACATAGGGGACATCGTGTCCCTGTACGCGGAGGGCTCGGTCAACGGCTTCATCAGCACCTTGGG
Seq A exon
GTTAGTGGATGACAGATGTGTGGTGCACCCAGAGGCCGGGGACCTTGCCAACCCTCCCAAGAAGTTCAGAG
Seq C2 exon
ACTGCCTTTTCAAGGTGTGCCCTATGAACAGATATTCTGCCCAGAAGCAATATTGGAAAGCAAAGCAAGCCAAACAAGGGAACCACACCGAGGCAGCCTTGCTGAAGAAACTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104_MULTIEX1-1/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.010 C2=0.022
Domain overlap (PFAM):
C1:
PF087096=Ins145_P3_rec=PU(15.5=87.1)
A:
PF087096=Ins145_P3_rec=FE(13.8=100)
C2:
PF087096=Ins145_P3_rec=PD(24.3=22.5)


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAGCTTCCTCTACATAGGGG
R:
TCGGTGTGGTTCCCTTGTTTG
Band lengths:
168-239
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