HsaEX6054142 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4779550-4799387:+
Coord C1 exon
chr3:4779550-4779645
Coord A exon
chr3:4782619-4782741
Coord C2 exon
chr3:4799355-4799387
Length
123 bp
Sequences
Splice sites
3' ss Seq
TCCCTTGGCTCTTCTTGCAGGTG
3' ss Score
11.74
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
AACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTG
Seq A exon
GTGGAAGTGATCAAGAAAGCCTACATGCAAGGTGAAGTGGAATTTGAGGATGGAGAAAACGGTGAGGATGGGGCGGCGTCCCCCAGGAACGTGGGGCACAACATCTACATATTAGCCCATCAG
Seq C2 exon
CTTTGCCTTTTGAAGGATTTCAAAAGGGAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-38/43=37-42
Average complexity
C3
Mappability confidence:
98%=98=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.062 A=0.320 C2=0.000
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:
AATGCCTCGAAGTTGCTCCTG
R:
CTCTTCCCTTTTGAAATCCTTCAA
Band lengths:
126-249
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains