Special

HsaEX6065624 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26775173-26781095:-
Coord C1 exon
chr12:26780966-26781095
Coord A exon
chr12:26777232-26777289
Coord C2 exon
chr12:26775173-26775338
Length
58 bp
Sequences
Splice sites
3' ss Seq
TTTACCATTTATCTTTGCAGCTA
3' ss Score
10.07
5' ss Seq
AAGGTATAG
5' ss Score
7.98
Exon sequences
Seq C1 exon
TTTATCCTGAGTGTCAGACTGGATTATAGGATCTCATATATGCTGTCAATATATAAGAAGGAGTTTGGAGAGGACAATGACAATGCGGAGACATCTGCCAGTGGATCTCCAGACACTTTACTACCATCAG
Seq A exon
CTATTGTTCCTGATATAGATGAAATTGCAGCTCAGGCAGAAACTATGTTTGCGGGAAG
Seq C2 exon
AAAAGAAAAAAATCCAGTTCAACTTGACGATGAAGGAGGCAGGACGTTTTTACGGGTCCTCATTCATCTGATCATGCACGACTACCCGCCTTTGCTGTCTGGAGCCCTGCAGCTGTTGTTTAAGCACTTCAGCCAGAGGGCAGAGGTTTTACAGGCATTTAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'36-37,'36-36,37-37=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=0.295 A=0.000 C2=0.107
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:
GGAGACATCTGCCAGTGGATC
R:
CGGGTAGTCGTGCATGATCAG
Band lengths:
132-190
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains