Special

HsaEX0032563 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4783816-4795187:+
Coord C1 exon
chr3:4783816-4783920
Coord A exon
chr3:4787947-4788139
Coord C2 exon
chr3:4795065-4795187
Length
193 bp
Sequences
Splice sites
3' ss Seq
CATCCACTTTTTCATCCTAGATT
3' ss Score
8.41
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
Exon sequences
Seq C1 exon
TTGGCTCGGCATAACAAAGAACTTCAGAGCATGCTGAAACCTGGTGGCCAAGTGGACGGAGATGAAGCCCTGGAGTTTTATGCCAAGCACACGGCGCAGATAGAG
Seq A exon
ATTGTCAGATTAGACCGAACAATGGAACAGATAGTCTTTCCCGTGCCCAGCATATGTGAATTCCTAACCAAGGAGTCAAAACTACGAATTTACTATACTACAGAGAGAGACGAACAAGGCAGCAAAATCAATGATTTCTTTCTGCGGTCTGAAGACCTCTTCAATGAAATGAATTGGCAGAAGAAACTGAGAG
Seq C2 exon
CCCAGCCCGTGTTGTACTGGTGTGCCCGCAACATGTCTTTCTGGAGCAGCATTTCGTTTAACCTGGCCGTCCTGATGAACCTGCTGGTGGCGTTTTTCTACCCGTTTAAGGGAGTCCGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-40/43=39-41
Average complexity
S
Mappability confidence:
98%=98=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.143 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCTCGGCATAACAAAGAACT
R:
TCCTCGGACTCCCTTAAACGG
Band lengths:
226-419
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development