HsaEX6054148 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4691144-4710473:+
Coord C1 exon
chr3:4691144-4691344
Coord A exon
chr3:4693490-4693741
Coord C2 exon
chr3:4710325-4710473
Length
252 bp
Sequences
Splice sites
3' ss Seq
CCACCCTGTTCTTTATGTAGCTG
3' ss Score
8.18
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
ATCCTGGAGGCAGTAACCATGCAGCACATCTTCATGAACAATTTCCAGCTTTGCAGTGAGATCAACGAGAGAGTTGTTCAGCACTTCGTTCACTGCATAGAGACTCACGGTCGGAATGTCCAGTATATAAAGTTCTTACAGACAATTGTCAAGGCAGAAGGGAAATTTATTAAAAAATGCCAAGACATGGTTATGGCCGAG
Seq A exon
CTGGTCAATTCGGGAGAGGATGTCCTCGTGTTCTACAACGACAGAGCCTCTTTCCAGACTCTGATCCAGATGATGCGGTCAGAACGGGATCGGATGGATGAGAACAGCCCTCTCATGTACCACATCCACTTGGTCGAGCTCCTGGCTGTGTGCACGGAGGGTAAGAATGTCTACACAGAGATCAAGTGCAACTCCCTGCTCCCGCTGGATGACATCGTTCGCGTGGTGACCCACGAGGACTGCATCCCTGAG
Seq C2 exon
GACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-20/43=19-26
Average complexity
C3
Mappability confidence:
96%=96=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.018
Domain overlap (PFAM):
C1:
PF0136516=RYDR_ITPR=FE(36.7=100)
A:
PF0136516=RYDR_ITPR=PD(11.1=23.8)
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:
CTGGAGGCAGTAACCATGCAG
R:
TTCTCTGGGAAAAGCAGCTCG
Band lengths:
302-554
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains