Special

HsaEX6054162 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4703766-4706980:+
Coord C1 exon
chr3:4703766-4703926
Coord A exon
chr3:4704749-4704890
Coord C2 exon
chr3:4706822-4706980
Length
142 bp
Sequences
Splice sites
3' ss Seq
ATAGCGTCTTTCCTCCTAAGGTC
3' ss Score
7.66
5' ss Seq
CAGGTCGGT
5' ss Score
7.53
Exon sequences
Seq C1 exon
ATTGGCACCTCTCCTGTGAAGGAGGATAAGGAAGCATTTGCCATAGTTCCGGTTTCTCCTGCTGAAGTTCGGGACCTGGACTTTGCCAATGATGCCAGCAAGGTGCTGGGCTCCATTGCTGGGAAGCTAGAGAAGGGCACCATCACCCAGAATGAAAGGAG
Seq A exon
GTCTGTAACCAAGCTGCTAGAAGATTTGGTTTACTTCGTCACTGGTGGAACTAATTCTGGTCAAGATGTTCTCGAAGTTGTCTTCTCCAAGCCCAACAGAGAACGGCAGAAACTGATGAGAGAACAGAATATTCTCAAGCAG
Seq C2 exon
ATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGAAGAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'19-20,'19-19,20-20=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=0.056 A=0.021 C2=0.000
Domain overlap (PFAM):

C1:
PF0281514=MIR=PD(8.0=27.8)
A:
PF0136516=RYDR_ITPR=PU(22.3=95.8)
C2:
PF0136516=RYDR_ITPR=FE(25.2=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:
TGAAGTTCGGGACCTGGACTT
R:
CCTGTAGTCTTGCTGCGAGTG
Band lengths:
249-391
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains