Special

HsaEX0032582 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26580846-26592252:-
Coord C1 exon
chr12:26592060-26592252
Coord A exon
chr12:26589154-26589279
Coord C2 exon
chr12:26580846-26581021
Length
126 bp
Sequences
Splice sites
3' ss Seq
TTACATTTCTCACTTCCTAGATA
3' ss Score
8.57
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
Exon sequences
Seq C1 exon
ATTGTCCGGCATGATAGGACCATGGAACAAATAGTTTTTCCTGTCCCCAATATATGTGAATACCTCACTCGAGAATCCAAGTGCCGTGTGTTCAATACAACTGAAAGGGATGAACAAGGAAGTAAAGTGAATGACTTTTTCCAGCAAACAGAAGATCTCTACAATGAAATGAAGTGGCAGAAGAAAATCAGGA
Seq A exon
ATAACCCTGCACTGTTCTGGTTCTCGAGGCACATCTCTCTCTGGGGGAGCATTTCCTTCAACCTGGCTGTGTTCATCAATTTAGCTGTTGCTCTCTTCTACCCATTTGGGGATGATGGAGATGAAG
Seq C2 exon
GTACACTTTCTCCATTGTTCTCGGTTCTTCTTTGGATAGCAGTTGCGATCTGCACATCTATGCTGTTTTTCTTCTCCAAGCCTGTGGGTATTCGGCCGTTTCTTGTATCAATAATGCTCAGATCAATATATACAATAGGTCTTGGGCCTACATTAATACTTCTTGGTGCAGCTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'66-67,'66-65,67-67
Average complexity
S
Mappability confidence:
89%=100=80%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.018 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0052026=Ion_trans=PU(0.9=3.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCGGCATGATAGGACCATG
R:
CAGATCGCAACTGCTATCCAA
Band lengths:
242-368
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