HsaEX6054162 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4662082-4795187:+
Coord C1 exon
chr3:4662082-4662242
Coord A exon
chr3:4663065-4663206
Coord C2 exon
chr3:4795065-4795187
Length
142 bp
Sequences
Splice sites
3' ss Seq
ATAGCGTCTTTCCTCCTAAGGTC
3' ss Score
7.66
5' ss Seq
CAGGTCGGT
5' ss Score
7.53
Exon sequences
Seq C1 exon
ATTGGCACCTCTCCTGTGAAGGAGGATAAGGAAGCATTTGCCATAGTTCCGGTTTCTCCTGCTGAAGTTCGGGACCTGGACTTTGCCAATGATGCCAGCAAGGTGCTGGGCTCCATTGCTGGGAAGCTAGAGAAGGGCACCATCACCCAGAATGAAAGGAG
Seq A exon
GTCTGTAACCAAGCTGCTAGAAGATTTGGTTTACTTCGTCACTGGTGGAACTAATTCTGGTCAAGATGTTCTCGAAGTTGTCTTCTCCAAGCCCAACAGAGAACGGCAGAAACTGATGAGAGAACAGAATATTCTCAAGCAG
Seq C2 exon
CCCAGCCCGTGTTGTACTGGTGTGCCCGCAACATGTCTTTCTGGAGCAGCATTTCGTTTAACCTGGCCGTCCTGATGAACCTGCTGGTGGCGTTTTTCTACCCGTTTAAGGGAGTCCGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-5/43=4-41
Average complexity
C3
Mappability confidence:
83%=83=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.056 A=0.021 C2=0.000
Domain overlap (PFAM):
C1:
PF0281514=MIR=PD(8.0=27.8)
A:
PF0136516=RYDR_ITPR=PU(22.3=95.8)
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:
CACCTCTCCTGTGAAGGAGGA
R:
TAGAAAAACGCCACCAGCAGG
Band lengths:
256-398
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains