Special

HsaEX0032591 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26878583-26986131:-
Coord C1 exon
chr12:26985623-26986131
Coord A exon
chr12:26943090-26943160
Coord C2 exon
chr12:26878583-26878698
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_CASSETTE4
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=0.009 C2=0.000
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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
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