HsaEX1018099 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4768511-4777374:+
Coord C1 exon
chr3:4768511-4768764
Coord A exon
chr3:4775242-4775442
Coord C2 exon
chr3:4777264-4777374
Length
201 bp
Sequences
Splice sites
3' ss Seq
TGGGGACTACCCAATTGCAGAAC
3' ss Score
4.65
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
CTAAAGAGCCCACAACACAGATAACAGAAGAGGTCCGGGATCAGCTCCTGGAGGCCTCCGCTGCCACCAGGAAAGCCTTCACCACTTTCAGGAGGGAGGCTGATCCCGACGACCACTACCAGCCTGGAGAGGGCACCCAGGCCACTGCCGACAAGGCCAAGGACGACCTGGAGATGAGCGCGGTCATCACCATCATGCAGCCCATCCTCCGCTTCCTTCAGCTCCTGTGTGAAAACCACAACCGAGACCTGCAG
Seq A exon
AACTTCCTCCGTTGCCAAAATAACAAGACCAACTACAATTTGGTATGTGAGACCCTGCAGTTTCTGGACTGTATTTGTGGAAGCACAACTGGAGGCCTTGGTCTTCTGGGCTTGTATATAAATGAAAAGAATGTAGCGCTTATCAACCAAACCCTGGAAAGTCTGACCGAATACTGTCAAGGACCTTGCCATGAGAACCAG
Seq C2 exon
AACTGCATAGCCACCCATGAATCCAATGGCATTGACATCATCACAGCCCTGATCCTCAATGATATCAATCCTTTGGGAAAGAAGAGGATGGACCTTGTGTTAGAACTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'90-92,'90-91,94-92
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.435 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF084546=RIH_assoc=PU(24.2=34.1)
A:
PF084546=RIH_assoc=FE(55.0=100)
C2:
PF084546=RIH_assoc=PD(18.3=59.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGAAGAGGTCCGGGATCAG
R:
TCATTGAGGATCAGGGCTGTGA
Band lengths:
293-494
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains