HsaEX6054150 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4683628-4710473:+
Coord C1 exon
chr3:4683628-4683798
Coord A exon
chr3:4684281-4684346
Coord C2 exon
chr3:4710325-4710473
Length
66 bp
Sequences
Splice sites
3' ss Seq
GTGTTCACTTTGGTTTCTAGGAG
3' ss Score
9.33
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
Exon sequences
Seq C1 exon
GTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAG
Seq A exon
GAGGGAAATAACAAGCCACAAAAGCATGAAAGCACCAGCAGCTACAACTACAGAGTGGTCAAAGAG
Seq C2 exon
GACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-16/43=15-26
Average complexity
C3
Mappability confidence:
95%=95=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.351 A=0.591 C2=0.018
Domain overlap (PFAM):
C1:
NO
A:
PF0136516=RYDR_ITPR=PU(1.7=13.6)
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:
GGCCCCGATGAGACTATGGAT
R:
CCTTCTGGCGTCTGTGTTCTC
Band lengths:
177-243
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains