Special

HsaEX0032574 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26556233-26578833:-
Coord C1 exon
chr12:26578713-26578833
Coord A exon
chr12:26561762-26561952
Coord C2 exon
chr12:26556233-26556375
Length
191 bp
Sequences
Splice sites
3' ss Seq
TTTAAATCTTTCTTTTTCAGCAA
3' ss Score
9.82
5' ss Seq
CAGGTACAT
5' ss Score
7.79
Exon sequences
Seq C1 exon
ACACATCAGCCAGTTTTTATTCAGCTACTGCAATCTGCCTTCAGAATTTACAATTGCACCTGGCCAAACCCAGCGCAGAAAGCCTCAGTGGAATCCTGTATCAGAACTTTGGCTGAAGTGG
Seq A exon
CAAAAAATCGTGGAATTGCCATTCCAGTGGATTTGGACAGCCAAGTTAATACTCTTTTCATGAAGAGCCATTCAAATATGGTGCAGAGAGCAGCAATGGGTTGGAGACTATCAGCTCGCTCTGGGCCACGCTTTAAGGAAGCTCTTGGAGGGCCTGCTTGGGATTACAGAAATATTATTGAAAAGTTACAG
Seq C2 exon
GATGTAGTGGCCTCCTTGGAGCACCAGTTCAGCCCAATGATGCAGGCTGAATTCTCAGTGTTGGTTGATGTATTGTACAGTCCAGAACTGCTGTTCCCTGAGGGAAGCGATGCAAGAATAAGATGTGGCGCTTTCATGTCGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'90-93,'90-92,94-93
Average complexity
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:
ENST00000381340fB17833


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:
CAGCTACTGCAATCTGCCTTCA
R:
TTCGACATGAAAGCGCCACAT
Band lengths:
243-434
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