HsaEX0032550 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4685069-4691344:+
Coord C1 exon
chr3:4685069-4685206
Coord A exon
chr3:4688495-4688620
Coord C2 exon
chr3:4691144-4691344
Length
126 bp
Sequences
Splice sites
3' ss Seq
ATCTGTCTCCTCCCACACAGGCC
3' ss Score
9.58
5' ss Seq
GGGGTAAGA
5' ss Score
7.83
Exon sequences
Seq C1 exon
ATTTTGATTCGGCTTAGCAAACTCTGTGTTCAAGAGAGTGCCTCAGTGAGAAAGAGCAGGAAGCAGCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGGTGCTGGAGCTGCTGCAGATTCCCTATGAGAAG
Seq A exon
GCCGAAGATACCAAGATGCAAGAGATAATGAGGTTGGCTCATGAATTTTTGCAGAATTTCTGCGCAGGCAACCAGCAGAATCAAGCTTTGCTACATAAACACATAAACCTGTTTCTCAACCCAGGG
Seq C2 exon
ATCCTGGAGGCAGTAACCATGCAGCACATCTTCATGAACAATTTCCAGCTTTGCAGTGAGATCAACGAGAGAGTTGTTCAGCACTTCGTTCACTGCATAGAGACTCACGGTCGGAATGTCCAGTATATAAAGTTCTTACAGACAATTGTCAAGGCAGAAGGGAAATTTATTAAAAAATGCCAAGACATGGTTATGGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'54-54,'54-53,57-54
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.065 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0136516=RYDR_ITPR=FE(25.0=100)
A:
PF0136516=RYDR_ITPR=FE(22.8=100)
C2:
PF0136516=RYDR_ITPR=FE(36.7=100)
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:
TCGGCTTAGCAAACTCTGTGT
R:
TACTGGACATTCCGACCGTGA
Band lengths:
255-381
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