Special

HsaEX6054154 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4716752-4722375:+
Coord C1 exon
chr3:4716752-4716932
Coord A exon
chr3:4718298-4718485
Coord C2 exon
chr3:4722237-4722375
Length
188 bp
Sequences
Splice sites
3' ss Seq
TCTCTCCTGGCCTTTCCTAGGCA
3' ss Score
9.32
5' ss Seq
CAGGTATCC
5' ss Score
7.91
Exon sequences
Seq C1 exon
GTTGTAAATTTAGCTAGGAATCTCATATACTTTGGTTTCTACAACTTCTCTGACCTTCTACGATTAACTAAGATCCTTCTGGCCATATTGGACTGTGTACATGTGACAACAATCTTCCCCATTAGCAAGATGGCGAAAGGAGAAGAGAATAAAGGTAACAATGATGTGGAGAAGCTGAAGA
Seq A exon
GCAGTAACGTGATGAGATCTATTCATGGCGTGGGAGAGCTGATGACCCAGGTGGTGCTCCGGGGAGGAGGCTTTTTGCCCATGACTCCCATGGCTGCTGCCCCTGAAGGCAATGTGAAGCAGGCAGAGCCTGAGAAGGAGGACATCATGGTCATGGACACCAAGCTGAAGATCATTGAGATACTCCAG
Seq C2 exon
TTTATTTTGAATGTGAGGTTGGATTATAGGATCTCCTGCCTCCTGTGTATATTTAAGCGAGAGTTTGATGAAAGCAATTCCCAGACTTCAGAAACATCCTCCGGAAACAGCAGCCAAGAAGGGCCAAGTAATGTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'29-29,'29-28,30-29=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.089 A=0.171 C2=0.468
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


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:
ACGATTAACTAAGATCCTTCTGGCC
R:
CCCTTCTTGGCTGCTGTTTCC
Band lengths:
245-433
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains