HsaEX0032565 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4711757-4733220:+
Coord C1 exon
chr3:4711757-4711868
Coord A exon
chr3:4717367-4717399
Coord C2 exon
chr3:4733088-4733220
Length
33 bp
Sequences
Splice sites
3' ss Seq
TCCCCTTTTTTCTTTTCCAGCTA
3' ss Score
12.21
5' ss Seq
GAGGTCCTA
5' ss Score
-2.92
Exon sequences
Seq C1 exon
GTTAATAAAGCATACAAAACAGCTGCTAGAAGAAAATGAAGAGAAGCTCTGCATTAAGGTCCTACAGACCCTGAGGGAAATGATGACCAAAGATAGAGGCTATGGAGAAAAG
Seq A exon
CTAATTTCCATTGATGAATTGGATAATGCTGAG
Seq C2 exon
GGTGAGGCGCTCAGGCAAGTTCTGGTCAACCGTTACTATGGAAACGTCAGACCTTCGGGACGAAGAGAGAGCCTTACCAGCTTTGGCAATGGCCCACTGTCAGCAGGAGGACCCGGCAAGCCCGGGGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-28/43=27-31
Average complexity
C2
Mappability confidence:
97%=97=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.030 A=0.636 C2=0.517
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGAGGGAAATGATGACCAA
R:
TAAGGCTCTCTCTTCGTCCCG
Band lengths:
119-152
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