HsaEX6054154 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4675068-4683798:+
Coord C1 exon
chr3:4675068-4675221
Coord A exon
chr3:4676614-4676801
Coord C2 exon
chr3:4683628-4683798
Length
188 bp
Sequences
Splice sites
3' ss Seq
TCTCTCCTGGCCTTTCCTAGGCA
3' ss Score
9.32
5' ss Seq
CAGGTATCC
5' ss Score
7.91
Exon sequences
Seq C1 exon
GTTGTAAATTTAGCTAGGAATCTCATATACTTTGGTTTCTACAACTTCTCTGACCTTCTACGATTAACTAAGATCCTTCTGGCCATATTGGACTGTGTACATGTGACAACAATCTTCCCCATTAGCAAGATGGCGAAAGGAGAAGAGAATAAAG
Seq A exon
GCAGTAACGTGATGAGATCTATTCATGGCGTGGGAGAGCTGATGACCCAGGTGGTGCTCCGGGGAGGAGGCTTTTTGCCCATGACTCCCATGGCTGCTGCCCCTGAAGGCAATGTGAAGCAGGCAGAGCCTGAGAAGGAGGACATCATGGTCATGGACACCAAGCTGAAGATCATTGAGATACTCCAG
Seq C2 exon
GTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-13/43=12-15
Average complexity
C3
Mappability confidence:
94%=94=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.050 A=0.180 C2=0.351
Domain overlap (PFAM):
C1:
NO
A:
NO
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:
ACAACTTCTCTGACCTTCTACGA
R:
ATCCATAGTCTCATCGGGGCC
Band lengths:
249-437
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains