Special

HsaEX0032558 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4718298-4723106:+
Coord C1 exon
chr3:4718298-4718485
Coord A exon
chr3:4722237-4722375
Coord C2 exon
chr3:4723048-4723106
Length
139 bp
Sequences
Splice sites
3' ss Seq
ATTTCCACTTGAATCTTTAGTTT
3' ss Score
6.22
5' ss Seq
CAGGTTAGT
5' ss Score
8.02
Exon sequences
Seq C1 exon
GCAGTAACGTGATGAGATCTATTCATGGCGTGGGAGAGCTGATGACCCAGGTGGTGCTCCGGGGAGGAGGCTTTTTGCCCATGACTCCCATGGCTGCTGCCCCTGAAGGCAATGTGAAGCAGGCAGAGCCTGAGAAGGAGGACATCATGGTCATGGACACCAAGCTGAAGATCATTGAGATACTCCAG
Seq A exon
TTTATTTTGAATGTGAGGTTGGATTATAGGATCTCCTGCCTCCTGTGTATATTTAAGCGAGAGTTTGATGAAAGCAATTCCCAGACTTCAGAAACATCCTCCGGAAACAGCAGCCAAGAAGGGCCAAGTAATGTACCAG
Seq C2 exon
GTGCTCTTGACTTTGAACACATTGAAGAACAAGCAGAAGGCATCTTTGGAGGAAGGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.171 A=0.468 C2=0.403
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:
AACGTGATGAGATCTATTCATGGCG
R:
TTTCCTTCCTCCAAAGATGCCT
Band lengths:
242-381
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