HsaEX6054153 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4680553-4683551:+
Coord C1 exon
chr3:4680553-4680691
Coord A exon
chr3:4681364-4681418
Coord C2 exon
chr3:4683386-4683551
Length
55 bp
Sequences
Splice sites
3' ss Seq
GGTATGTTCTAACTTTTCAGGTG
3' ss Score
8.83
5' ss Seq
AAGGAAAGT
5' ss Score
2.81
Exon sequences
Seq C1 exon
TTTATTTTGAATGTGAGGTTGGATTATAGGATCTCCTGCCTCCTGTGTATATTTAAGCGAGAGTTTGATGAAAGCAATTCCCAGACTTCAGAAACATCCTCCGGAAACAGCAGCCAAGAAGGGCCAAGTAATGTACCAG
Seq A exon
GTGCTCTTGACTTTGAACACATTGAAGAACAAGCAGAAGGCATCTTTGGAGGAAG
Seq C2 exon
TGAGGAGAACACCCCACTGGACTTGGATGACCACGGCGGCAGAACCTTTCTCCGTGTCCTGCTCCACTTGACGATGCATGACTACCCACCCCTGGTGTCAGGGGCCCTGCAGCTCCTCTTCCGGCACTTCAGCCAGAGGCAGGAGGTGCTCCAGGCCTTCAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'48-47,'48-46,50-47
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.468 A=0.421 C2=0.143
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGATCTCCTGCCTCCTGTGTA
R:
CGTGGTCATCCAAGTCCAGTG
Band lengths:
146-201
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains