Special

HsaEX0032550 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4726753-4733028:+
Coord C1 exon
chr3:4726753-4726890
Coord A exon
chr3:4730179-4730304
Coord C2 exon
chr3:4732828-4733028
Length
126 bp
Sequences
Splice sites
3' ss Seq
ATCTGTCTCCTCCCACACAGGCC
3' ss Score
9.58
5' ss Seq
GGGGTAAGA
5' ss Score
7.83
Exon sequences
Seq C1 exon
ATTTTGATTCGGCTTAGCAAACTCTGTGTTCAAGAGAGTGCCTCAGTGAGAAAGAGCAGGAAGCAGCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGGTGCTGGAGCTGCTGCAGATTCCCTATGAGAAG
Seq A exon
GCCGAAGATACCAAGATGCAAGAGATAATGAGGTTGGCTCATGAATTTTTGCAGAATTTCTGCGCAGGCAACCAGCAGAATCAAGCTTTGCTACATAAACACATAAACCTGTTTCTCAACCCAGGG
Seq C2 exon
ATCCTGGAGGCAGTAACCATGCAGCACATCTTCATGAACAATTTCCAGCTTTGCAGTGAGATCAACGAGAGAGTTGTTCAGCACTTCGTTCACTGCATAGAGACTCACGGTCGGAATGTCCAGTATATAAAGTTCTTACAGACAATTGTCAAGGCAGAAGGGAAATTTATTAAAAAATGCCAAGACATGGTTATGGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'37-37,'37-36,38-37
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.065 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0136516=RYDR_ITPR=FE(25.0=100)
A:
PF0136516=RYDR_ITPR=FE(22.8=100)
C2:
PF0136516=RYDR_ITPR=FE(36.7=100)


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:
TCGGCTTAGCAAACTCTGTGT
R:
TACTGGACATTCCGACCGTGA
Band lengths:
255-381
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