HsaEX6054164 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4658124-4662242:+
Coord C1 exon
chr3:4658124-4658278
Coord A exon
chr3:4661061-4661087
Coord C2 exon
chr3:4662082-4662242
Length
27 bp
Sequences
Splice sites
3' ss Seq
CAAATATTCCTATTGACAAGGAA
3' ss Score
1.76
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
GTGGACCCTGATCAGGACGCCTCTCGAAGTAGGTTGCGGAATGCCCAAGAAAAGATGGTATACTCCCTGGTCTCTGTGCCTGAAGGCAATGACATCTCCTCCATTTTCGAGCTAGATCCCACCACTCTGCGTGGAGGTGACAGCCTTGTCCCAAG
Seq A exon
GAAGAAGAAAAGCCCGTGATGCTGAAA
Seq C2 exon
ATTGGCACCTCTCCTGTGAAGGAGGATAAGGAAGCATTTGCCATAGTTCCGGTTTCTCCTGCTGAAGTTCGGGACCTGGACTTTGCCAATGATGCCAGCAAGGTGCTGGGCTCCATTGCTGGGAAGCTAGAGAAGGGCACCATCACCCAGAATGAAAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'31-29,'31-28,32-29
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.174 A=0.188 C2=0.056
Domain overlap (PFAM):
C1:
PF0281514=MIR=FE(27.3=100)
A:
PF0281514=MIR=FE(17.6=100)
C2:
PF0281514=MIR=PD(8.0=27.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTAGATCCCACCACTCTGCGT
R:
AAGTCCAGGTCCCGAACTTCA
Band lengths:
127-154
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains