Special

HsaEX6065633 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26731646-26748523:-
Coord C1 exon
chr12:26748398-26748523
Coord A exon
chr12:26732960-26733088
Coord C2 exon
chr12:26731646-26731766
Length
129 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTATTTTCTCTCCAGGTT
3' ss Score
11.34
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GTTAAAATTGCTTATGTGAACTTTGTTAATCACTGTTATGTTGACACTGAAGTGGAAATGAAAGAAATCTATACAAGTAACCACATTTGGAAATTATTTGAGAACTTCTTGGTGGATATGGCAAGG
Seq A exon
GTTTGCAACACAACTACAGACAGGAAACATGCAGACATCTTTTTGGAAAAGTGTGTTACTGAGTCAATAATGAATATTGTGAGCGGCTTCTTTAATTCTCCCTTTTCAGACAATAGTACCAGCCTCCAG
Seq C2 exon
ACACATCAGCCAGTTTTTATTCAGCTACTGCAATCTGCCTTCAGAATTTACAATTGCACCTGGCCAAACCCAGCGCAGAAAGCCTCAGTGGAATCCTGTATCAGAACTTTGGCTGAAGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'45-46,'45-45,46-46=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTTATGTGAACTTTGTTAATCACT
R:
CCACTTCAGCCAAAGTTCTGA
Band lengths:
239-368
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains