Special

HsaEX6054142 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4821234-4825604:+
Coord C1 exon
chr3:4821234-4821329
Coord A exon
chr3:4824303-4824425
Coord C2 exon
chr3:4825500-4825604
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
TTGGCTCGGCATAACAAAGAACTTCAGAGCATGCTGAAACCTGGTGGCCAAGTGGACGGAGATGAAGCCCTGGAGTTTTATGCCAAGCACACGGCGCAGATAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'65-65,'65-64,66-65=AN
Average complexity
A_S
Mappability confidence:
88%=75=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.062 A=0.317 C2=0.157
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATGCCTCGAAGTTGCTCCTG
R:
CTATCTGCGCCGTGTGCTTG
Band lengths:
196-319
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains