Special

HsaEX0032560 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4816926-4821329:+
Coord C1 exon
chr3:4816926-4817126
Coord A exon
chr3:4818948-4819058
Coord C2 exon
chr3:4821234-4821329
Length
111 bp
Sequences
Splice sites
3' ss Seq
CTGTGTGTGTCTTTGCTCAGAAC
3' ss Score
8.51
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
Exon sequences
Seq C1 exon
AACTTCCTCCGTTGCCAAAATAACAAGACCAACTACAATTTGGTATGTGAGACCCTGCAGTTTCTGGACTGTATTTGTGGAAGCACAACTGGAGGCCTTGGTCTTCTGGGCTTGTATATAAATGAAAAGAATGTAGCGCTTATCAACCAAACCCTGGAAAGTCTGACCGAATACTGTCAAGGACCTTGCCATGAGAACCAG
Seq A exon
AACTGCATAGCCACCCATGAATCCAATGGCATTGACATCATCACAGCCCTGATCCTCAATGATATCAATCCTTTGGGAAAGAAGAGGATGGACCTTGTGTTAGAACTGAAG
Seq C2 exon
AACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.062
Domain overlap (PFAM):

C1:
PF084546=RIH_assoc=FE(55.0=100)
A:
PF084546=RIH_assoc=PD(18.3=59.5)
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:
TGAGACCCTGCAGTTTCTGGA
R:
CAGTTCCTTGGGCCTCATGTT
Band lengths:
250-361
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development