Special

HsaEX6054139 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4800425-4811460:+
Coord C1 exon
chr3:4800425-4800600
Coord A exon
chr3:4806103-4806267
Coord C2 exon
chr3:4811265-4811460
Length
165 bp
Sequences
Splice sites
3' ss Seq
GTTCCTGTCATTGTTCTCAGGTA
3' ss Score
9.68
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
GAACCCTGGAGCCCCACTGGTCGGGACTCCTGTGGACAGCCATGCTCATCTCTCTGGCCATCGTCATTGCCCTCCCCAAGCCCCATGGCATCCGGGCCTTAATTGCCTCCACAATTCTACGACTGATATTTTCAGTCGGGTTACAACCCACGTTGTTTCTTCTGGGCGCTTTCAAT
Seq A exon
GTATGCAATAAAATCATCTTTCTAATGAGCTTTGTGGGCAACTGTGGGACATTCACAAGAGGCTACCGAGCCATGGTTCTGGATGTTGAGTTCCTCTATCATTTGTTGTATCTGGTGATCTGTGCCATGGGGCTCTTTGTCCATGAATTCTTCTACAGTCTGCTG
Seq C2 exon
CTTTTTGATTTAGTGTACAGAGAAGAGACTTTGCTTAATGTCATTAAAAGTGTCACTCGCAATGGACGGTCCATCATCCTGACAGCAGTTCTGGCTCTGATCCTCGTTTACCTGTTCTCAATAGTGGGCTATCTTTTCTTCAAGGATGACTTTATCTTGGAAGTAGATAGGCTGCCCAATGAAACAGCTGTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'109-110,'109-109,112-110
Average complexity
S
Mappability confidence:
100%=83=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0052026=Ion_trans=PU(10.9=47.5)
A:
PF0281514=MIR=PD(4.7=9.1),PF0052026=Ion_trans=PU(23.3=96.4)
C2:
PF0052026=Ion_trans=FE(25.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACAGCCATGCTCATCTCT
R:
CAGAGCCAGAACTGCTGTCAG
Band lengths:
243-408
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains