HsaEX0032562 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4516476-4627878:+
Coord C1 exon
chr3:4516476-4516583
Coord A exon
chr3:4521024-4521094
Coord C2 exon
chr3:4627763-4627878
Length
71 bp
Sequences
Splice sites
3' ss Seq
TTTATCTGTCTTCTTTACAGCCT
3' ss Score
10.45
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
GATTTTCAAGAAAGACATGTCTGACAAAATGTCTAGCTTCCTACATATTGGAGACATTTGTTCTCTGTACGCGGAGGGATCGACAAATGGATTTATTAGCACCTTGGG
Seq A exon
CCTGGTTGATGATCGTTGTGTTGTACAGCCAGAAACCGGGGACCTTAACAATCCACCTAAGAAATTCAGAG
Seq C2 exon
ACTGCCTCTTTAAGCTATGTCCCATGAACCGCTACTCTGCCCAAAAGCAGTTCTGGAAAGCCGCTAAGCCTGGGGCCAACAGCACCACAGACGCAGTGCTACTCAACAAACTGCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX1-3/3=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.080 C2=0.000
Domain overlap (PFAM):
C1:
PF087096=Ins145_P3_rec=PU(11.9=87.1)
A:
PF087096=Ins145_P3_rec=FE(10.6=100)
C2:
PF087096=Ins145_P3_rec=FE(16.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTTGTTCTCTGTACGCGGAGG
R:
GCAGTTTGTTGAGTAGCACTGC
Band lengths:
167-238
Functional annotations
There are 1 annotated functions for this event
PMID: 9808459
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: western blot. ELM ID: ELMI001694; ELM sequence: PPKKF; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development