HsaEX6065637 @ hg38
Exon Skipping
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26494153-26550355:-
Coord C1 exon
chr12:26550247-26550355
Coord A exon
chr12:26495152-26495260
Coord C2 exon
chr12:26494153-26494340
Length
109 bp
Sequences
Splice sites
3' ss Seq
TTTGTTATCCTTCTTATTAGGGT
3' ss Score
8.74
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
GTTGATTAATCATACAAAGAAACTAATGGAGAAAGAAGAAAAACTGTGCATTAAAATTCTTCAGACATTACGAGAAATGTTAGAGAAGAAAGACAGCTTTGTGGAAGAG
Seq A exon
GGTAACACATTAAGAAAGATACTTCTGAATCGATACTTTAAAGGTGATTATAGTATTGGTGTGAATGGACACCTATCAGGAGCCTACTCCAAAACTGCACAGGTGGGAG
Seq C2 exon
GAAGCTTTTCTGGACAAGATTCAGATAAGATGGGGATATCAATGTCAGACATTCAGTGTCTGCTGGATAAAGAAGGTGCATCAGAACTTGTCATCGATGTTATAGTGAACACCAAAAATGACAGAATTTTTTCAGAAGGCATTTTCCTCGGCATTGCCTTGCTTGAAGGAGGAAATACACAAACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'96-105,'96-103,100-105
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.001
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000381340fB3472
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGAGAAAGAAGAAAAACTGTGCA
R:
GGCAATGCCGAGGAAAATGC
Band lengths:
242-351
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains