Special

HsaEX0032570 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26686481-26711268:-
Coord C1 exon
chr12:26711173-26711268
Coord A exon
chr12:26695606-26695650
Coord C2 exon
chr12:26686481-26686632
Length
45 bp
Sequences
Splice sites
3' ss Seq
ATTTTCCTTTGTTTTTCTAGCTT
3' ss Score
9.6
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAG
Seq A exon
CTTAATCCTGATTATCGAGATGCCCAAAATGAAGGAAAAAATGTG
Seq C2 exon
AGAGATGGAGTCCCTCCAACTTCAAAGAAAAAACGCCAGGCAGGGGAGAAGATCATGTATACTTTGGTTTCAGTCCCGCATGGCAATGACATTGCATCCCTTTTTGAACTAGATGCCACAACTCTTCAGAGAGCTGACTGCCTGGTTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'33-36,'33-33,39-36
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.608 C2=0.235
Domain overlap (PFAM):

C1:
PF0281514=MIR=FE(15.4=100)
A:
PF0281514=MIR=FE(12.4=100)
C2:
PF0281514=MIR=FE(24.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000381340fB3470


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCATCATGACCCATGCCGTG
R:
ATGATCTTCTCCCCTGCCTGG
Band lengths:
148-193
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