Special

HsaEX6054166 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4687071-4693902:+
Coord C1 exon
chr3:4687071-4687154
Coord A exon
chr3:4687266-4687412
Coord C2 exon
chr3:4693807-4693902
Length
147 bp
Sequences
Splice sites
3' ss Seq
TTTCTTGTGTTGACTGTCAGGGT
3' ss Score
7.53
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
GTCAATTCCGTCAACTGCAATACAAGCTGGAAAATAGTCCTTTTCATGAAATGGAGTGATAACAAAGACGACATATTAAAGGGG
Seq A exon
GGTGACGTGGTGAGGCTGTTTCATGCTGAGCAGGAGAAGTTTCTCACCTGTGACGAACACAGGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAGTTCAAAAGCCCTGTGGGAGGTGGAG
Seq C2 exon
GTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'11-13,'11-12,12-13=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.051 C2=0.000
Domain overlap (PFAM):

C1:
PF087096=Ins145_P3_rec=PD(8.8=71.4),PF0281514=MIR=PU(2.1=14.3)
A:
PF0281514=MIR=FE(25.7=100)
C2:
PF0281514=MIR=FE(16.6=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:
GTCAATTCCGTCAACTGCAAT
R:
CTCTGCTGCCAAGTAATGCCC
Band lengths:
180-327
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains