Special

HsaEX0056329 @ hg19

Exon Skipping

Gene
Description
strawberry notch homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:22973]
Coordinates
chr12:123834857-123850421:-
Coord C1 exon
chr12:123849248-123850421
Coord A exon
chr12:123842356-123842399
Coord C2 exon
chr12:123834857-123834988
Length
44 bp
Sequences
Splice sites
3' ss Seq
TAAATATCTTCTTCCTACAGGTT
3' ss Score
10.98
5' ss Seq
AGGGTAGGT
5' ss Score
8.1
Exon sequences
Seq C1 exon
CTAGGTGGCCTTCGCCTTCCCCCTCCCCCTTCGCGGAAACCCGGCCCCCTCACCCCTCGCCCACCCCAGAGCCGCGGTAATGGACCGTTTGGGTTCCGGAATTCTCTTGGATCCAACAACTGGTACCGGGCCGAGGATAGCCGGCGGAGTCCGTTTTTGGCGGCGAAGACTGGGGGGTGGTCAAGATGGGGGGGAAATCATCTTCCTTCACCTAGGAGGGAGGCGGGGCGGAGAGGGGCGCAGAGAGGCGGGTGGGGGAGGAGGGAGGAAGTCACGTGAGGGCGCTGCGTGCGCGCGGCGCCTCATCCGTTGCCCCTCCCCCGCCCCTCCCGGCGGGGCGGGGGGGCTGGGGGAGGGGCGTCAAGATGGCGGCGGGGAGGTAGGCAGAGCAGGACGCCGCTGCTGCCGCCGCCACCGCCGCCTCCGCTCCAGTCGCCTCTGGTCCTTCAAACTCACACCTCCCGGGAGGAGCTGTGCTGGCGCCGGGTCCCGCGGGGAAA
Seq A exon
GTTTTGCAGTGGGGGTTACTTTACCAAGCAAGGTCCTATGAAGG
Seq C2 exon
ATGGTGGAGCCAGGGCAAGATTTACTGCTTGCTGCTTTGAGTGAGAGTGGAATTAGTCCGAATGACCTCTTTGATATTGATGGTGGAGATGCAGGGCTTGCAACTCCAATGCCTACCCCGTCAGTTCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139697_MULTIEX2-2/5=C1-3
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=NA C2=0.632
Domain overlap (PFAM):

C1:
NA
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAACTCACACCTCCCGGGAG
R:
CCCTGCATCTCCACCATCAAT
Band lengths:
148-192
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development