Special

HsaEX6054163 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4702672-4704890:+
Coord C1 exon
chr3:4702672-4702771
Coord A exon
chr3:4703766-4703926
Coord C2 exon
chr3:4704749-4704890
Length
161 bp
Sequences
Splice sites
3' ss Seq
AGGACCACCTTGAATTTCAGATT
3' ss Score
4.7
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GAACTCTTATGTTCGGCTCAGACACCTATGTACTAATACCTGGGTTCACAGCACAAATATTCCTATTGACAAGGAAGAAGAAAAGCCCGTGATGCTGAAA
Seq A exon
ATTGGCACCTCTCCTGTGAAGGAGGATAAGGAAGCATTTGCCATAGTTCCGGTTTCTCCTGCTGAAGTTCGGGACCTGGACTTTGCCAATGATGCCAGCAAGGTGCTGGGCTCCATTGCTGGGAAGCTAGAGAAGGGCACCATCACCCAGAATGAAAGGAG
Seq C2 exon
GTCTGTAACCAAGCTGCTAGAAGATTTGGTTTACTTCGTCACTGGTGGAACTAATTCTGGTCAAGATGTTCTCGAAGTTGTCTTCTCCAAGCCCAACAGAGAACGGCAGAAACTGATGAGAGAACAGAATATTCTCAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'18-19,'18-18,19-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.176 A=0.056 C2=0.021
Domain overlap (PFAM):

C1:
PF0281514=MIR=FE(17.6=100)
A:
PF0281514=MIR=PD(8.0=27.8)
C2:
PF0136516=RYDR_ITPR=PU(22.3=95.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GAACTCTTATGTTCGGCTCAGACA
R:
TGTTCTCTCATCAGTTTCTGCCG
Band lengths:
226-387
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains