HsaEX0032554 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4639384-4644234:+
Coord C1 exon
chr3:4639384-4639470
Coord A exon
chr3:4642093-4642251
Coord C2 exon
chr3:4644136-4644234
Length
159 bp
Sequences
Splice sites
3' ss Seq
TTCTCTTGGTGGGTTTTTAGCTC
3' ss Score
6.17
5' ss Seq
AGCGTAAGT
5' ss Score
10.07
Exon sequences
Seq C1 exon
CACGCTGCAGACTTGGAAAAGAAGCAGAATGAGACAGAAAACAGGAAATTGCTGGGGACCGTAATCCAGTATGGCAATGTGATCCAG
Seq A exon
CTCCTGCATTTGAAAAGTAATAAATACCTAACAGTGAATAAGAGGCTTCCTGCTCTGTTGGAGAAGAATGCCATGAGAGTCACATTGGACGAGGCTGGAAATGAAGGGTCCTGGTTTTATATTCAGCCATTCTACAAGCTGCGATCCATTGGAGACAGC
Seq C2 exon
GTGGTCATAGGTGACAAGGTGGTTCTGAACCCCGTCAATGCTGGTCAGCCCCTACATGCTAGCAGCCATCAACTGGTAGATAACCCAGGCTGCAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'19-19,'19-18,20-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.138 A=0.000 C2=0.121
Domain overlap (PFAM):
C1:
PF087096=Ins145_P3_rec=FE(12.4=100)
A:
PF087096=Ins145_P3_rec=FE(23.0=100)
C2:
PF087096=Ins145_P3_rec=FE(14.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACGCTGCAGACTTGGAAAAG
R:
CTCATTGCAGCCTGGGTTATCT
Band lengths:
186-345
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