HsaEX0032564 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4787947-4800600:+
Coord C1 exon
chr3:4787947-4788139
Coord A exon
chr3:4795065-4795187
Coord C2 exon
chr3:4800425-4800600
Length
123 bp
Sequences
Splice sites
3' ss Seq
CTTTGCCTTTGTCTCTGCAGCCC
3' ss Score
12.08
5' ss Seq
GAGGTACCC
5' ss Score
7.84
Exon sequences
Seq C1 exon
ATTGTCAGATTAGACCGAACAATGGAACAGATAGTCTTTCCCGTGCCCAGCATATGTGAATTCCTAACCAAGGAGTCAAAACTACGAATTTACTATACTACAGAGAGAGACGAACAAGGCAGCAAAATCAATGATTTCTTTCTGCGGTCTGAAGACCTCTTCAATGAAATGAATTGGCAGAAGAAACTGAGAG
Seq A exon
CCCAGCCCGTGTTGTACTGGTGTGCCCGCAACATGTCTTTCTGGAGCAGCATTTCGTTTAACCTGGCCGTCCTGATGAACCTGCTGGTGGCGTTTTTCTACCCGTTTAAGGGAGTCCGAGGAG
Seq C2 exon
GAACCCTGGAGCCCCACTGGTCGGGACTCCTGTGGACAGCCATGCTCATCTCTCTGGCCATCGTCATTGCCCTCCCCAAGCCCCATGGCATCCGGGCCTTAATTGCCTCCACAATTCTACGACTGATATTTTCAGTCGGGTTACAACCCACGTTGTTTCTTCTGGGCGCTTTCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-41/43=40-43
Average complexity
S
Mappability confidence:
98%=98=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:
NO
A:
NO
C2:
PF0052026=Ion_trans=PU(10.9=47.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GAGAGAGACGAACAAGGCAGC
R:
CCCAGAAGAAACAACGTGGGT
Band lengths:
257-380
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