Special

HsaEX0032583 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26571982-26589279:-
Coord C1 exon
chr12:26589154-26589279
Coord A exon
chr12:26580846-26581021
Coord C2 exon
chr12:26571982-26572146
Length
176 bp
Sequences
Splice sites
3' ss Seq
ATTTCTTCCACATTTTACAGGTA
3' ss Score
10.78
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
ATAACCCTGCACTGTTCTGGTTCTCGAGGCACATCTCTCTCTGGGGGAGCATTTCCTTCAACCTGGCTGTGTTCATCAATTTAGCTGTTGCTCTCTTCTACCCATTTGGGGATGATGGAGATGAAG
Seq A exon
GTACACTTTCTCCATTGTTCTCGGTTCTTCTTTGGATAGCAGTTGCGATCTGCACATCTATGCTGTTTTTCTTCTCCAAGCCTGTGGGTATTCGGCCGTTTCTTGTATCAATAATGCTCAGATCAATATATACAATAGGTCTTGGGCCTACATTAATACTTCTTGGTGCAGCTAAT
Seq C2 exon
CTTTGTAATAAAATTGTTTTTCTGGTGAGTTTTGTTGGAAATCGTGGCACGTTCACCCGTGGGTACCGAGCAGTCATCCTGGATATGGCCTTTCTCTATCACGTGGCGTATGTCCTGGTTTGCATGCTGGGCCTTTTTGTCCATGAATTCTTCTATAGCTTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'67-69,'67-67,70-69
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:
PF0052026=Ion_trans=PU(0.9=3.4)
C2:
PF0052026=Ion_trans=FE(23.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TCGAGGCACATCTCTCTCTGG
R:
CAAAAAGGCCCAGCATGCAAA
Band lengths:
242-418
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