Special

HsaEX6054140 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4836749-4847951:+
Coord C1 exon
chr3:4836749-4836871
Coord A exon
chr3:4842109-4842284
Coord C2 exon
chr3:4847787-4847951
Length
176 bp
Sequences
Splice sites
3' ss Seq
ACCCTGTTTTGTCCTTGCAGGAA
3' ss Score
12.99
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
CCCAGCCCGTGTTGTACTGGTGTGCCCGCAACATGTCTTTCTGGAGCAGCATTTCGTTTAACCTGGCCGTCCTGATGAACCTGCTGGTGGCGTTTTTCTACCCGTTTAAGGGAGTCCGAGGAG
Seq A exon
GAACCCTGGAGCCCCACTGGTCGGGACTCCTGTGGACAGCCATGCTCATCTCTCTGGCCATCGTCATTGCCCTCCCCAAGCCCCATGGCATCCGGGCCTTAATTGCCTCCACAATTCTACGACTGATATTTTCAGTCGGGTTACAACCCACGTTGTTTCTTCTGGGCGCTTTCAAT
Seq C2 exon
GTATGCAATAAAATCATCTTTCTAATGAGCTTTGTGGGCAACTGTGGGACATTCACAAGAGGCTACCGAGCCATGGTTCTGGATGTTGAGTTCCTCTATCATTTGTTGTATCTGGTGATCTGTGCCATGGGGCTCTTTGTCCATGAATTCTTCTACAGTCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'70-73,'70-72,74-73=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=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0052026=Ion_trans=PU(10.9=47.5)
C2:
PF0281514=MIR=PD(4.7=9.1),PF0052026=Ion_trans=PU(23.3=96.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CCCGCAACATGTCTTTCTGGA
R:
CATGGACAAAGAGCCCCATGG
Band lengths:
244-420
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains