Special

HsaEX6065634 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26561762-26580155:-
Coord C1 exon
chr12:26580027-26580155
Coord A exon
chr12:26578713-26578833
Coord C2 exon
chr12:26561762-26561952
Length
121 bp
Sequences
Splice sites
3' ss Seq
TACCTTCTTTCTGGTTTTAGACA
3' ss Score
8.91
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GTTTGCAACACAACTACAGACAGGAAACATGCAGACATCTTTTTGGAAAAGTGTGTTACTGAGTCAATAATGAATATTGTGAGCGGCTTCTTTAATTCTCCCTTTTCAGACAATAGTACCAGCCTCCAG
Seq A exon
ACACATCAGCCAGTTTTTATTCAGCTACTGCAATCTGCCTTCAGAATTTACAATTGCACCTGGCCAAACCCAGCGCAGAAAGCCTCAGTGGAATCCTGTATCAGAACTTTGGCTGAAGTGG
Seq C2 exon
CAAAAAATCGTGGAATTGCCATTCCAGTGGATTTGGACAGCCAAGTTAATACTCTTTTCATGAAGAGCCATTCAAATATGGTGCAGAGAGCAGCAATGGGTTGGAGACTATCAGCTCGCTCTGGGCCACGCTTTAAGGAAGCTCTTGGAGGGCCTGCTTGGGATTACAGAAATATTATTGAAAAGTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'89-92,'89-89,90-92=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 Inclusion Isoforms:
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:
TGCAACACAACTACAGACAGGA
R:
CCCAGAGCGAGCTGATAGTCT
Band lengths:
251-372
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains