Special

HsaEX0032576 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26724656-26790227:-
Coord C1 exon
chr12:26790157-26790227
Coord A exon
chr12:26725650-26725765
Coord C2 exon
chr12:26724656-26724742
Length
116 bp
Sequences
Splice sites
3' ss Seq
TGTATGTTGGTTTGTCACAGACT
3' ss Score
6.76
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
GTTAGTGGATGACAGATGTGTGGTGCACCCAGAGGCCGGGGACCTTGCCAACCCTCCCAAGAAGTTCAGAG
Seq A exon
ACTGCCTTTTCAAGGTGTGCCCTATGAACAGATATTCTGCCCAGAAGCAATATTGGAAAGCAAAGCAAGCCAAACAAGGGAACCACACCGAGGCAGCCTTGCTGAAGAAACTACAG
Seq C2 exon
CACGCTGCAGAACTGGAACAAAAACAAAATGAATCGGAGAATAAGAAACTGTTGGGAGAAATTGTAAAATACAGTAATGTTATACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'11-17,'11-14,20-17
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.010 A=0.022 C2=0.119
Domain overlap (PFAM):

C1:
PF087096=Ins145_P3_rec=FE(13.8=100)
A:
PF087096=Ins145_P3_rec=PD(24.3=22.5)
C2:
PF087096=Ins145_P3_rec=FE(16.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000381340fB3471


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GTTAGTGGATGACAGATGTGTGGT
R:
ACTGTATTTTACAATTTCTCCCAACA
Band lengths:
146-262
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