HsaEX0032567 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4725546-4733220:+
Coord C1 exon
chr3:4725546-4725581
Coord A exon
chr3:4727126-4727173
Coord C2 exon
chr3:4733088-4733220
Length
48 bp
Sequences
Splice sites
3' ss Seq
AATTTCTGCATGCCTAGCAGGAG
3' ss Score
3.7
5' ss Seq
AGGGTACGT
5' ss Score
9.15
Exon sequences
Seq C1 exon
CTTCCTCCAGCTCCGGATTCTGAGAACGCCACTGAG
Seq A exon
GAGCTTGAACCAAGTCCACCCCTGCGGCAGCTGGAAGACCATAAAAGG
Seq C2 exon
GGTGAGGCGCTCAGGCAAGTTCTGGTCAACCGTTACTATGGAAACGTCAGACCTTCGGGACGAAGAGAGAGCCTTACCAGCTTTGGCAATGGCCCACTGTCAGCAGGAGGACCCGGCAAGCCCGGGGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-30/43=29-31
Average complexity
C3*
Mappability confidence:
97%=97=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=0.517
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCAGCTCCGGATTCTGAGA
R:
CTGCTGACAGTGGGCCATTG
Band lengths:
138-186
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