HsaEX0032558 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4676614-4710473:+
Coord C1 exon
chr3:4676614-4676801
Coord A exon
chr3:4680553-4680691
Coord C2 exon
chr3:4710325-4710473
Length
139 bp
Sequences
Splice sites
3' ss Seq
ATTTCCACTTGAATCTTTAGTTT
3' ss Score
6.22
5' ss Seq
CAGGTTAGT
5' ss Score
8.02
Exon sequences
Seq C1 exon
GCAGTAACGTGATGAGATCTATTCATGGCGTGGGAGAGCTGATGACCCAGGTGGTGCTCCGGGGAGGAGGCTTTTTGCCCATGACTCCCATGGCTGCTGCCCCTGAAGGCAATGTGAAGCAGGCAGAGCCTGAGAAGGAGGACATCATGGTCATGGACACCAAGCTGAAGATCATTGAGATACTCCAG
Seq A exon
TTTATTTTGAATGTGAGGTTGGATTATAGGATCTCCTGCCTCCTGTGTATATTTAAGCGAGAGTTTGATGAAAGCAATTCCCAGACTTCAGAAACATCCTCCGGAAACAGCAGCCAAGAAGGGCCAAGTAATGTACCAG
Seq C2 exon
GACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-14/43=13-26
Average complexity
C1
Mappability confidence:
94%=94=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.180 A=0.468 C2=0.018
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:
GCTTTTTGCCCATGACTCCCA
R:
ACCGCCACTTTCACATTTCCT
Band lengths:
257-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development