Special

HsaEX0062211 @ hg19

Exon Skipping

Gene
Description
signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 [Source:HGNC Symbol;Acc:11357]
Coordinates
chr10:17730026-17737240:+
Coord C1 exon
chr10:17730026-17730172
Coord A exon
chr10:17735221-17735311
Coord C2 exon
chr10:17737048-17737240
Length
91 bp
Sequences
Splice sites
3' ss Seq
GTGTTCCTCTTTTTTGTTAGGCT
3' ss Score
8.09
5' ss Seq
AAGGTGCGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
GGTCATCCTAAAGTATGTGAAAAATTAAAGGCTCTTATGGTTGAATGGACAGATGAATTTAAGAATGATCCACAGCTTAGTCTAATATCAGCAATGATTAAGAACCTTAAGGAACAAGGAGTTACGTTCCCAGCTATTGGCTCTCAG
Seq A exon
GCTGCAGAACAAGCAAAAGCAAGCCCAGCTCTTGTAGCCAAGGATCCTGGTACTGTGGCTAACAAAAAAGAAGAAGAAGATTTAGCAAAAG
Seq C2 exon
CCATTGAGTTGTCTCTCAAGGAACAAAGGCAGCAGTCAACCACCCTTTCCACTTTGTATCCAAGCACATCCAGTCTCTTAACTAACCACCAACATGAAGGCCGAAAAGTTCGTGCTATATATGACTTTGAAGCTGCTGAAGACAATGAACTTACTTTTAAAGCTGGAGAAATTATTACAGTTCTTGATGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136738-'8-11,'8-9,11-11
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.027 A=0.587 C2=0.246
Domain overlap (PFAM):

C1:
PF0079014=VHS=PD(28.9=79.6)
A:
PF0280915=UIM=PU(50.0=29.0)
C2:
PF0280915=UIM=PD(44.4=12.3),PF0001823=SH3_1=PU(58.7=41.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAGGAGTTACGTTCCCAGC
R:
TGTCTTCAGCAGCTTCAAAGTCA
Band lengths:
178-269
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