Special

HsaEX6065635 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26703180-26714885:-
Coord C1 exon
chr12:26714695-26714885
Coord A exon
chr12:26709166-26709308
Coord C2 exon
chr12:26703180-26703288
Length
143 bp
Sequences
Splice sites
3' ss Seq
TCTTGTGTTTCATTCCCTAGGAT
3' ss Score
11.84
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
Exon sequences
Seq C1 exon
CAAAAAATCGTGGAATTGCCATTCCAGTGGATTTGGACAGCCAAGTTAATACTCTTTTCATGAAGAGCCATTCAAATATGGTGCAGAGAGCAGCAATGGGTTGGAGACTATCAGCTCGCTCTGGGCCACGCTTTAAGGAAGCTCTTGGAGGGCCTGCTTGGGATTACAGAAATATTATTGAAAAGTTACAG
Seq A exon
GATGTAGTGGCCTCCTTGGAGCACCAGTTCAGCCCAATGATGCAGGCTGAATTCTCAGTGTTGGTTGATGTATTGTACAGTCCAGAACTGCTGTTCCCTGAGGGAAGCGATGCAAGAATAAGATGTGGCGCTTTCATGTCGAA
Seq C2 exon
GTTGATTAATCATACAAAGAAACTAATGGAGAAAGAAGAAAAACTGTGCATTAAAATTCTTCAGACATTACGAGAAATGTTAGAGAAGAAAGACAGCTTTGTGGAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'48-49,'48-48,49-49=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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:
TGCCATTCCAGTGGATTTGGA
R:
TGTCTGAAGAATTTTAATGCACAGT
Band lengths:
242-385
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains