HsaEX0057917 @ hg38
Exon Skipping
Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:HGNC:16885]
Coordinates
chr19:6754052-6754731:-
Coord C1 exon
chr19:6754616-6754731
Coord A exon
chr19:6754251-6754425
Coord C2 exon
chr19:6754052-6754163
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-'18-18,'18-16,19-18
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.410 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 Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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