Special

HsaEX0032590 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26869077-26875488:-
Coord C1 exon
chr12:26875330-26875488
Coord A exon
chr12:26874219-26874275
Coord C2 exon
chr12:26869077-26869175
Length
57 bp
Sequences
Splice sites
3' ss Seq
ATACAAATTCAATTCCACAGGAT
3' ss Score
6.38
5' ss Seq
TTGGTAAGG
5' ss Score
8.92
Exon sequences
Seq C1 exon
CTACTGCATATAAAAAGCAACAAATATCTTACTGTCAACAAGAGATTACCTGCTTTACTGGAGAAGAATGCCATGCGTGTGTCCTTGGATGCTGCAGGAAATGAAGGGTCTTGGTTTTATATTCATCCGTTCTGGAAACTGAGAAGCGAGGGTGACAAT
Seq A exon
GATGCAAGCTTCTGGATTTAATTTGGTTAATAAATTATCTGGTGATATCTTCCTTTG
Seq C2 exon
ATTGTTGTAGGAGATAAAGTTGTTTTGATGCCTGTGAATGCAGGGCAGCCACTACATGCCAGCAACATAGAGCTTCTTGATAACCCAGGGTGTAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF087096=Ins145_P3_rec=FE(29.9=100)
A:
PF087096=Ins145_P3_rec=PD(0.6=14.3)
C2:
PF087096=Ins145_P3_rec=FE(14.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGCAGGAAATGAAGGGTC
R:
AGCTCTATGTTGCTGGCATGT
Band lengths:
144-201
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development