HsaEX0032560 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4775242-4779645:+
Coord C1 exon
chr3:4775242-4775442
Coord A exon
chr3:4777264-4777374
Coord C2 exon
chr3:4779550-4779645
Length
111 bp
Sequences
Splice sites
3' ss Seq
CTGTGTGTGTCTTTGCTCAGAAC
3' ss Score
8.51
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
Exon sequences
Seq C1 exon
AACTTCCTCCGTTGCCAAAATAACAAGACCAACTACAATTTGGTATGTGAGACCCTGCAGTTTCTGGACTGTATTTGTGGAAGCACAACTGGAGGCCTTGGTCTTCTGGGCTTGTATATAAATGAAAAGAATGTAGCGCTTATCAACCAAACCCTGGAAAGTCTGACCGAATACTGTCAAGGACCTTGCCATGAGAACCAG
Seq A exon
AACTGCATAGCCACCCATGAATCCAATGGCATTGACATCATCACAGCCCTGATCCTCAATGATATCAATCCTTTGGGAAAGAAGAGGATGGACCTTGTGTTAGAACTGAAG
Seq C2 exon
AACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'94-93,'94-92,95-93
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.062
Domain overlap (PFAM):
C1:
PF084546=RIH_assoc=FE(55.0=100)
A:
PF084546=RIH_assoc=PD(18.3=59.5)
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:
TGAGACCCTGCAGTTTCTGGA
R:
CAGTTCCTTGGGCCTCATGTT
Band lengths:
250-361
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