Special

HsaEX6054161 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4704749-4709233:+
Coord C1 exon
chr3:4704749-4704890
Coord A exon
chr3:4706822-4706980
Coord C2 exon
chr3:4709061-4709233
Length
159 bp
Sequences
Splice sites
3' ss Seq
CTTTTCATTTTCACAAACAGATC
3' ss Score
10.07
5' ss Seq
CAGGTTTGG
5' ss Score
5.63
Exon sequences
Seq C1 exon
GTCTGTAACCAAGCTGCTAGAAGATTTGGTTTACTTCGTCACTGGTGGAACTAATTCTGGTCAAGATGTTCTCGAAGTTGTCTTCTCCAAGCCCAACAGAGAACGGCAGAAACTGATGAGAGAACAGAATATTCTCAAGCAG
Seq A exon
ATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGAAGAACCAG
Seq C2 exon
GAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'20-21,'20-20,21-21=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.021 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0136516=RYDR_ITPR=PU(22.3=95.8)
A:
PF0136516=RYDR_ITPR=FE(25.2=100)
C2:
PF0136516=RYDR_ITPR=FE(27.7=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:
TGGTTTACTTCGTCACTGGTGG
R:
AATCTCTGCCGCGGTAATGTG
Band lengths:
248-407
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains