Special

HsaEX0032584 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26415303-26428088:-
Coord C1 exon
chr12:26427913-26428088
Coord A exon
chr12:26419049-26419213
Coord C2 exon
chr12:26415303-26415498
Length
165 bp
Sequences
Splice sites
3' ss Seq
TAACCCTTTCCTCCCTTTAGCTT
3' ss Score
9.49
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
GTACACTTTCTCCATTGTTCTCGGTTCTTCTTTGGATAGCAGTTGCGATCTGCACATCTATGCTGTTTTTCTTCTCCAAGCCTGTGGGTATTCGGCCGTTTCTTGTATCAATAATGCTCAGATCAATATATACAATAGGTCTTGGGCCTACATTAATACTTCTTGGTGCAGCTAAT
Seq A exon
CTTTGTAATAAAATTGTTTTTCTGGTGAGTTTTGTTGGAAATCGTGGCACGTTCACCCGTGGGTACCGAGCAGTCATCCTGGATATGGCCTTTCTCTATCACGTGGCGTATGTCCTGGTTTGCATGCTGGGCCTTTTTGTCCATGAATTCTTCTATAGCTTCCTG
Seq C2 exon
CTTTTTGATTTGGTGTACAGGGAAGAGACTTTGCTGAATGTCATAAAAAGTGTCACACGAAATGGCCGCTCTATTATTCTAACTGCAGTCCTGGCTCTCATCCTCGTCTACCTGTTTTCCATTATTGGGTTCCTTTTTTTGAAGGATGACTTCACTATGGAAGTTGATAGGCTGAAAAACCGAACTCCTGTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'127-137,'127-134,130-137
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0052026=Ion_trans=PU(0.9=3.4)
A:
PF0052026=Ion_trans=FE(23.7=100)
C2:
PF0052026=Ion_trans=FE(28.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000381340fB17834


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCGATCTGCACATCTATGCTGT
R:
GGTAGACGAGGATGAGAGCCA
Band lengths:
244-409
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development