HsaEX6054157 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4670729-4683798:+
Coord C1 exon
chr3:4670729-4670926
Coord A exon
chr3:4673136-4673387
Coord C2 exon
chr3:4683628-4683798
Length
252 bp
Sequences
Splice sites
3' ss Seq
GCCCTTGTTCCTTCCTCTAGATA
3' ss Score
11.46
5' ss Seq
CGAGTGAGC
5' ss Score
5.16
Exon sequences
Seq C1 exon
GTTGGTTCTTTCTCGTTTTGAATTTGAAGGTGTCTCTTCCACTGGAGAGAATGCTCTGGAGGCAGGAGAAGACGAGGAAGAGGTGTGGCTGTTTTGGAGGGACAGCAACAAAGAGATTCGCAGCAAGAGTGTGAGGGAATTGGCTCAGGATGCTAAAGAAGGGCAGAAGGAGGACCGAGACGTTCTCAGCTACTACAG
Seq A exon
ATATCAGCTGAACCTCTTTGCGAGGATGTGTCTGGACCGCCAATACCTGGCCATCAACGAAATCTCAGGCCAGCTGGATGTCGATCTCATTCTCCGCTGCATGTCTGACGAGAACCTGCCCTATGACCTCAGGGCGTCCTTCTGCCGCCTCATGCTTCACATGCATGTGGACCGAGATCCCCAGGAACAAGTCACCCCCGTGAAATATGCCCGCCTCTGGTCGGAGATTCCCTCGGAGATCGCCATTGACGA
Seq C2 exon
GTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-10/43=9-15
Average complexity
C3
Mappability confidence:
92%=92=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.061 A=0.000 C2=0.351
Domain overlap (PFAM):
C1:
PF0136516=RYDR_ITPR=PD(3.9=11.9)
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:
AGGTGTCTCTTCCACTGGAGA
R:
ATCCATAGTCTCATCGGGGCC
Band lengths:
306-558
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains