HsaEX6054146 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4706167-4735354:+
Coord C1 exon
chr3:4706167-4706351
Coord A exon
chr3:4710325-4710473
Coord C2 exon
chr3:4735164-4735354
Length
149 bp
Sequences
Splice sites
3' ss Seq
AGGCTGTGTTTCCGTTTTAGGAC
3' ss Score
10.86
5' ss Seq
CAAGTAAGC
5' ss Score
7.47
Exon sequences
Seq C1 exon
CCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAG
Seq A exon
GACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAA
Seq C2 exon
GGGGAGGTTCCGGATCCAGCTCTATGAGCAGGGGTGAGATGAGTCTGGCCGAGGTTCAGTGTCACCTTGACAAGGAGGGGGCTTCCAATCTAGTTATCGACCTCATCATGAACGCATCCAGTGACCGAGTGTTCCATGAAAGCATTCTCCTGGCCATTGCCCTTCTGGAAGGAGGCAACACCACCATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-26/43=24-32
Average complexity
C3*
Mappability confidence:
97%=97=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.018 C2=0.260
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
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:
TGGACAGCCAAGTCAACAACC
R:
ACTAGATTGGAAGCCCCCTCC
Band lengths:
246-395
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains