Special

HsaEX0032588 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26639037-26640184:-
Coord C1 exon
chr12:26640001-26640184
Coord A exon
chr12:26639750-26639866
Coord C2 exon
chr12:26639037-26639293
Length
117 bp
Sequences
Splice sites
3' ss Seq
GGCTCTGATCATCCATAAAGAAT
3' ss Score
1.32
5' ss Seq
ATGGTAAAT
5' ss Score
6.41
Exon sequences
Seq C1 exon
TATTCTTTCTACCAGCAGTTGCATGAACAAAAAAAGTCAGAAAAATTCTTTAAAGTTCTCTATGATCGAATGAAGGCTGCTCAGAAAGAAATAAGATCAACAGTGACAGTTAATACCATAGATTTAGGTAACAAAAAAAGGGACGATGACAATGAATTGATGACATCTGGTCCACGAATGAGAG
Seq A exon
AATTTTGGTCATGGGGTGACCCTAAAACGGCTCTGCAGGACTAAACTTAAATGAGACATAATCAGTGCAAAGCAACCAACGGCATGAAAGATGTTTGATTTCATTGTGGCATGCATG
Seq C2 exon
TAAGAGATTCAACACTACATTTAAAAGAGGGAATGAAAGGGCAATTAACAGAAGCTTCTTCAGCAACATCCAAAGCATATTGTGTATACAGAAGAGAAATGGATCCAGAAATAGACATTATGTGCACAGGACCAGAAGCGGGAAACACTGAGGAAAAATCCGCAGAGGAAGTAACAATGAGTCCCGCAATTGCCATCATGCAGCCAATACTGAGATTTCTTCAGTTACTGTGTGAGAATCACAACCGGGAATTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.332 A=0.071 C2=0.291
Domain overlap (PFAM):

C1:
PF0138316=CpcD=PD(78.6=53.2)
A:
NO
C2:
PF084546=RIH_assoc=PU(24.2=33.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGAATGAAGGCTGCTCAGAA
R:
GCTTCTGGTCCTGTGCACATA
Band lengths:
258-375
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