HsaEX6054159 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4667377-4683798:+
Coord C1 exon
chr3:4667377-4667549
Coord A exon
chr3:4669654-4669773
Coord C2 exon
chr3:4683628-4683798
Length
120 bp
Sequences
Splice sites
3' ss Seq
TTGTTTCTGTTTCTGTTTAGATT
3' ss Score
10.61
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
Exon sequences
Seq C1 exon
GAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAG
Seq A exon
ATTCTTAGATTACCTCTCCGACCTCTGTGTCTCCATGAACAAATCAATTCCAGTGACCCAGGAACTGATATGTAAAGCTGTGCTGAACCCCACCAACGCTGACATCCTGATTGAGACCAA
Seq C2 exon
GTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-8/43=7-15
Average complexity
C3
Mappability confidence:
90%=90=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.351
Domain overlap (PFAM):
C1:
PF0136516=RYDR_ITPR=FE(27.7=100)
A:
PF0136516=RYDR_ITPR=FE(19.4=100)
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:
AGACACTATCACTGCCCTGCT
R:
ATCCATAGTCTCATCGGGGCC
Band lengths:
246-366
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains