Special

HsaEX6054138 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4847787-4854918:+
Coord C1 exon
chr3:4847787-4847951
Coord A exon
chr3:4852949-4853144
Coord C2 exon
chr3:4854826-4854918
Length
196 bp
Sequences
Splice sites
3' ss Seq
CTTTTTGTTTGTTTTCAAAGCTT
3' ss Score
7.78
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GTATGCAATAAAATCATCTTTCTAATGAGCTTTGTGGGCAACTGTGGGACATTCACAAGAGGCTACCGAGCCATGGTTCTGGATGTTGAGTTCCTCTATCATTTGTTGTATCTGGTGATCTGTGCCATGGGGCTCTTTGTCCATGAATTCTTCTACAGTCTGCTG
Seq A exon
CTTTTTGATTTAGTGTACAGAGAAGAGACTTTGCTTAATGTCATTAAAAGTGTCACTCGCAATGGACGGTCCATCATCCTGACAGCAGTTCTGGCTCTGATCCTCGTTTACCTGTTCTCAATAGTGGGCTATCTTTTCTTCAAGGATGACTTTATCTTGGAAGTAGATAGGCTGCCCAATGAAACAGCTGTTCCAG
Seq C2 exon
AAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'75-76,'75-74,77-76=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=0.000 A=0.000 C2=0.125
Domain overlap (PFAM):

C1:
PF0281514=MIR=PD(4.7=9.1),PF0052026=Ion_trans=PU(23.3=96.4)
A:
PF0052026=Ion_trans=FE(25.3=100)
C2:
PF0052026=Ion_trans=FE(12.1=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:
TCTTTCTAATGAGCTTTGTGGGCA
R:
CTTCTCTGGGTGCAGGAGAGG
Band lengths:
242-438
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains