HsaEX6054143 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4766530-4775442:+
Coord C1 exon
chr3:4766530-4766710
Coord A exon
chr3:4768511-4768764
Coord C2 exon
chr3:4775242-4775442
Length
254 bp
Sequences
Splice sites
3' ss Seq
GCCTTATGCTTGCTTTCTAGCTA
3' ss Score
8.31
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CACTCCTTTTTCTGTCGCTTGACAGAAGATAAGAAGTCAGAGAAATTCTTTAAGGTGTTTTATGACCGGATGAAGGTGGCCCAGCAAGAAATCAAAGCAACAGTGACAGTGAACACCAGTGACTTGGGAAATAAAAAGAAAGACGATGAGGTAGACAGGGATGCCCCATCACGGAAAAAAG
Seq A exon
CTAAAGAGCCCACAACACAGATAACAGAAGAGGTCCGGGATCAGCTCCTGGAGGCCTCCGCTGCCACCAGGAAAGCCTTCACCACTTTCAGGAGGGAGGCTGATCCCGACGACCACTACCAGCCTGGAGAGGGCACCCAGGCCACTGCCGACAAGGCCAAGGACGACCTGGAGATGAGCGCGGTCATCACCATCATGCAGCCCATCCTCCGCTTCCTTCAGCTCCTGTGTGAAAACCACAACCGAGACCTGCAG
Seq C2 exon
AACTTCCTCCGTTGCCAAAATAACAAGACCAACTACAATTTGGTATGTGAGACCCTGCAGTTTCTGGACTGTATTTGTGGAAGCACAACTGGAGGCCTTGGTCTTCTGGGCTTGTATATAAATGAAAAGAATGTAGCGCTTATCAACCAAACCCTGGAAAGTCTGACCGAATACTGTCAAGGACCTTGCCATGAGAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-34/43=33-35
Average complexity
S
Mappability confidence:
97%=97=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.393 A=0.435 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF084546=RIH_assoc=PU(24.2=34.1)
C2:
PF084546=RIH_assoc=FE(55.0=100)
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:
GGCCCAGCAAGAAATCAAAGC
R:
CTGGTTCTCATGGCAAGGTCC
Band lengths:
305-559
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains