Special

HsaEX0057917 @ hg19

Exon Skipping

Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:16885]
Coordinates
chr19:6754063-6754742:-
Coord C1 exon
chr19:6754627-6754742
Coord A exon
chr19:6754262-6754436
Coord C2 exon
chr19:6754063-6754174
Length
175 bp
Sequences
Splice sites
3' ss Seq
CTTGCCCTCCACCTCTGCAGGCA
3' ss Score
9.79
5' ss Seq
CAGGTTCGT
5' ss Score
7.97
Exon sequences
Seq C1 exon
GCCACAGGCCTCCTGGGAGTGACCAGAGATCAGCGGGGCAACATGGGAGTCTCATCTGGCCTGGAGCTGCTCACTCTTCCCCATGGACACCACTTGAGGTTGGAACTGCTGGAGAG
Seq A exon
GCATCAGACACTGGCGCTGGCCGGGGCGCTGGCGGTGCTGGGCTGCTCGGGGCCGCTGGAGGAGCGCGCAGCCGCACTGAGGGGACTGGTAGAGCTGGCGCTGGCGCTGCGGCCAGGGGCGGCGGGGGACCTGCCCGGGCTGGCTGCAGTCATGGGCGCCCTGCTCATGCCCCAG
Seq C2 exon
GTGTCCCGGTTGGAGCACACGTGGCGCCAGCTCCGAAGGAGCCACACGGAGGCTGCGCTGGCCTTTGAGCAGGAGCTGAAGCCGCTGATGCGGGCTCTGGATGAGGGCGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125731-'5-6,'5-5,6-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.115 A=0.040 C2=0.100
Domain overlap (PFAM):

C1:
PF0061714=RasGEF=PU(7.5=23.1)
A:
PF0061714=RasGEF=FE(48.3=100)
C2:
PF0061714=RasGEF=FE(30.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTCCTGGGAGTGACCA
R:
AGCGCCCTCATCCAGAGC
Band lengths:
220-395
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