Special

HsaEX0062220 @ hg19

Exon Skipping

Gene
Description
signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 [Source:HGNC Symbol;Acc:11358]
Coordinates
chr2:153004739-153032506:-
Coord C1 exon
chr2:153032117-153032506
Coord A exon
chr2:153006659-153006743
Coord C2 exon
chr2:153004739-153004814
Length
85 bp
Sequences
Splice sites
3' ss Seq
TATGCCAATATATTTTATAGAAA
3' ss Score
5.35
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
Exon sequences
Seq C1 exon
GAAGGTCCCCGGCTTCGTGGCTAGCCGGGGTCCTAGCGCTGGAAAGGTGGCCGTAGCGGCCGCCTGACCCCTACAAAAGTCTGGGACAGGGGCAGCGACAAAGGCCTTGGGAGGACGCCCATGGTCGGAGGGATCTCGCCCCGGGAGAAAAGTTGGGACAGGAGCGCGGGATCGAAGGGTGGACTCCGAGCCGGCCTGTCAGGCAAGAGCCGGGCAGGTGCGGTGGCGGAAGTGCAGGGACGGAGGCCGAAGCGGAGCGGTCTAGGGAGCCGCGGCCGCGGGTCACCCGGCGGGTAGCAGTTGCTGAGTGTCAGCTAGACAGCAGCGACTAGGGCTCGGGCGCCGGCGAGATGCCTTTGTTCACCGCCAACCCCTTCGAGCAAGACGTGG
Seq A exon
AAAAAGCCACGAATGAGTACAACACTACAGAAGATTGGAGTCTTATTATGGACATATGTGACAAAGTTGGAAGTACTCCTAATGG
Seq C2 exon
AGCGAAAGATTGCCTAAAAGCCATAATGAAAAGGGTAAATCATAAGGTTCCACATGTTGCTCTGCAAGCACTAACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115145-'0-3,'0-0,1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.179 A=0.138 C2=0.325
Domain overlap (PFAM):

C1:
PF0079014=VHS=PU(21.7=71.4)
A:
PF0079014=VHS=FE(20.4=100)
C2:
PF0079014=VHS=FE(18.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
AAGTGCAGGGACGGAGGC
R:
GGCTTTTAGGCAATCTTTCGCT
Band lengths:
183-268
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