HsaEX0032552 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4699813-4710473:+
Coord C1 exon
chr3:4699813-4699941
Coord A exon
chr3:4702830-4702950
Coord C2 exon
chr3:4710325-4710473
Length
121 bp
Sequences
Splice sites
3' ss Seq
CCTCTTTTGGCTTCTTGCAGACT
3' ss Score
9.74
5' ss Seq
TAGGTAAGA
5' ss Score
9.14
Exon sequences
Seq C1 exon
GCCTGTAACAACACTAGTGACAGGAAACATGCAGACTCGATTTTGGAGAAGTATGTCACCGAAATCGTCATGAGTATTGTTACTACTTTCTTCAGCTCTCCCTTCTCAGACCAGAGTACGACTTTGCAG
Seq A exon
ACTCGCCAGCCTGTCTTTGTGCAACTGCTGCAAGGCGTGTTCAGGGTTTACCACTGCAACTGGTTAATGCCAAGCCAAAAAGCCTCCGTGGAGAGCTGTATTCGGGTGCTGTCTGATGTAG
Seq C2 exon
GACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-23/43=22-26
Average complexity
C3*
Mappability confidence:
96%=96=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 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:
TGACAGGAAACATGCAGACTCG
R:
ACCGCCACTTTCACATTTCCT
Band lengths:
250-371
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