HsaEX6054165 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4645582-4658278:+
Coord C1 exon
chr3:4645582-4645728
Coord A exon
chr3:4652123-4652218
Coord C2 exon
chr3:4658124-4658278
Length
96 bp
Sequences
Splice sites
3' ss Seq
CCTGTTGATCATTCTTGCAGGTG
3' ss Score
9.55
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
GGTGACGTGGTGAGGCTGTTTCATGCTGAGCAGGAGAAGTTTCTCACCTGTGACGAACACAGGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAGTTCAAAAGCCCTGTGGGAGGTGGAG
Seq A exon
GTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAG
Seq C2 exon
GTGGACCCTGATCAGGACGCCTCTCGAAGTAGGTTGCGGAATGCCCAAGAAAAGATGGTATACTCCCTGGTCTCTGTGCCTGAAGGCAATGACATCTCCTCCATTTTCGAGCTAGATCCCACCACTCTGCGTGGAGGTGACAGCCTTGTCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'25-26,'25-22,28-26=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.041 A=0.000 C2=0.174
Domain overlap (PFAM):
C1:
PF0281514=MIR=FE(25.7=100)
A:
PF0281514=MIR=FE(16.6=100)
C2:
PF0281514=MIR=FE(27.3=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:
GGTGAGGCTGTTTCATGCTGA
R:
GCATTCCGCAACCTACTTCGA
Band lengths:
183-279
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains