HsaEX6054151 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4663065-4710473:+
Coord C1 exon
chr3:4663065-4663206
Coord A exon
chr3:4683628-4683798
Coord C2 exon
chr3:4710325-4710473
Length
171 bp
Sequences
Splice sites
3' ss Seq
AACGGATTGCGTTCATTAAGGTT
3' ss Score
4.74
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GTCTGTAACCAAGCTGCTAGAAGATTTGGTTTACTTCGTCACTGGTGGAACTAATTCTGGTCAAGATGTTCTCGAAGTTGTCTTCTCCAAGCCCAACAGAGAACGGCAGAAACTGATGAGAGAACAGAATATTCTCAAGCAG
Seq A exon
GTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAG
Seq C2 exon
GACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-15/43=5-26
Average complexity
C3
Mappability confidence:
94%=94=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.021 A=0.351 C2=0.018
Domain overlap (PFAM):
C1:
PF0136516=RYDR_ITPR=PU(22.3=95.8)
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000354582fB17821
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTTTACTTCGTCACTGGTGG
R:
ACCGCCACTTTCACATTTCCT
Band lengths:
254-425
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains