HsaEX1018100 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4777264-4782741:+
Coord C1 exon
chr3:4777264-4777374
Coord A exon
chr3:4779550-4779645
Coord C2 exon
chr3:4782619-4782741
Length
96 bp
Sequences
Splice sites
3' ss Seq
CCCTTTGTTTCTCCAACTAGAAC
3' ss Score
10.09
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
AACTGCATAGCCACCCATGAATCCAATGGCATTGACATCATCACAGCCCTGATCCTCAATGATATCAATCCTTTGGGAAAGAAGAGGATGGACCTTGTGTTAGAACTGAAG
Seq A exon
AACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTG
Seq C2 exon
GTGGAAGTGATCAAGAAAGCCTACATGCAAGGTGAAGTGGAATTTGAGGATGGAGAAAACGGTGAGGATGGGGCGGCGTCCCCCAGGAACGTGGGGCACAACATCTACATATTAGCCCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-37/43=36-38
Average complexity
S
Mappability confidence:
98%=98=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.062 C2=0.320
Domain overlap (PFAM):
C1:
PF084546=RIH_assoc=PD(18.3=59.5)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACCCATGAATCCAATGGCA
R:
CCCATCCTCACCGTTTTCTCC
Band lengths:
173-269
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains