HsaEX6054163 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4660988-4663206:+
Coord C1 exon
chr3:4660988-4661087
Coord A exon
chr3:4662082-4662242
Coord C2 exon
chr3:4663065-4663206
Length
161 bp
Sequences
Splice sites
3' ss Seq
AGGACCACCTTGAATTTCAGATT
3' ss Score
4.7
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GAACTCTTATGTTCGGCTCAGACACCTATGTACTAATACCTGGGTTCACAGCACAAATATTCCTATTGACAAGGAAGAAGAAAAGCCCGTGATGCTGAAA
Seq A exon
ATTGGCACCTCTCCTGTGAAGGAGGATAAGGAAGCATTTGCCATAGTTCCGGTTTCTCCTGCTGAAGTTCGGGACCTGGACTTTGCCAATGATGCCAGCAAGGTGCTGGGCTCCATTGCTGGGAAGCTAGAGAAGGGCACCATCACCCAGAATGAAAGGAG
Seq C2 exon
GTCTGTAACCAAGCTGCTAGAAGATTTGGTTTACTTCGTCACTGGTGGAACTAATTCTGGTCAAGATGTTCTCGAAGTTGTCTTCTCCAAGCCCAACAGAGAACGGCAGAAACTGATGAGAGAACAGAATATTCTCAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'32-30,'32-29,33-30
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.188 A=0.056 C2=0.021
Domain overlap (PFAM):
C1:
PF0281514=MIR=FE(17.6=100)
A:
PF0281514=MIR=PD(8.0=27.8)
C2:
PF0136516=RYDR_ITPR=PU(22.3=95.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACTCTTATGTTCGGCTCAGACA
R:
TGTTCTCTCATCAGTTTCTGCCG
Band lengths:
226-387
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains