HsaEX6054136 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4813142-4815218:+
Coord C1 exon
chr3:4813142-4813234
Coord A exon
chr3:4814423-4814562
Coord C2 exon
chr3:4815053-4815218
Length
140 bp
Sequences
Splice sites
3' ss Seq
GTTACTTGCCGTGTTCACAGAGC
3' ss Score
6.41
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
Exon sequences
Seq C1 exon
AAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAG
Seq A exon
AGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAG
Seq C2 exon
GAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'115-116,'115-113,116-116=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.125 A=0.191 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(12.1=100)
A:
PF0052026=Ion_trans=FE(17.9=100)
C2:
PF0052026=Ion_trans=PD(11.3=51.8)
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:
CGAGAGTTTGGCAAGCGAGTT
R:
AGCACGTGGTCTTCAAGATCT
Band lengths:
243-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains