Special

HsaEX0062223 @ hg19

Exon Skipping

Gene
Description
signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 [Source:HGNC Symbol;Acc:11358]
Coordinates
chr2:152989687-152992117:-
Coord C1 exon
chr2:152992023-152992117
Coord A exon
chr2:152989916-152989998
Coord C2 exon
chr2:152989687-152989774
Length
83 bp
Sequences
Splice sites
3' ss Seq
AAATTACTTTGTTTCTATAGCGG
3' ss Score
6.31
5' ss Seq
GAGGTAGGG
5' ss Score
7.81
Exon sequences
Seq C1 exon
TGATGCCAATTGGTGGAAAGGAGAAAATCACAGAGGAATAGGACTTTTCCCATCCAATTTTGTAACAACTAATTTAAACATAGAGACTGAGGCAG
Seq A exon
CGGCTGTGGACAAATTGAATGTAATTGATGATGATGTGGAGGAAATTAAGAAATCAGAGCCTGAGCCTGTTTATATAGATGAG
Seq C2 exon
GATAAGATGGATAGAGCCCTGCAGGTACTTCAGAGTATAGATCCAACAGATTCAAAACCAGACTCCCAAGACCTTTTGGATTTAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115145-'12-13,'12-12,13-13
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.321 C2=0.667
Domain overlap (PFAM):

C1:
PF0001823=SH3_1=PD(39.1=54.5)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
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:
CAATTGGTGGAAAGGAGAAAATCACA
R:
CCAAAAGGTCTTGGGAGTCTGG
Band lengths:
168-251
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