Special

HsaEX0057920 @ hg38

Exon Skipping

Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:HGNC:16885]
Coordinates
chr19:6759594-6763816:-
Coord C1 exon
chr19:6763705-6763816
Coord A exon
chr19:6760638-6760987
Coord C2 exon
chr19:6759594-6759670
Length
350 bp
Sequences
Splice sites
3' ss Seq
CCCCTGAACTTCATCCACAGAAG
3' ss Score
7.85
5' ss Seq
CAGGTACTC
5' ss Score
7.04
Exon sequences
Seq C1 exon
ATGTGGAAGACTGAGGCCTGTTGAAAGTGCAGAGCTCAGCCCTGGCACCCTCTGTTCCCAAGAGCTCCATGCAGGTGCCACAGGATGGAGAAGACCTTGCTGGCCAACCTTG
Seq A exon
AAGGCTGAAGCTCTTCTTCAGCAAAATGGCGACTTCCTGGTTCGCGCCTCTGGGTCCCGTGGGGGCAACCCCGTGATCTCCTGCCGCTGGCGGGGCTCAGCCCTCCATTTTGAGGTGTTCCGTGTGGCCCTGCGTCCCCGGCCAGGCCGACCCACAGCCCTCTTTCAACTGGAGGATGAGCAATTCCCCAGCATACCGGCTCTGGTTCACAGTTATATGACAGGCAGGCGCCCACTGTCCCAGGCCACAGGGGCTGTGGTCTCCAGGCCTGTGACTTGGCAGGGGCCTCTGCGACGCAGCTTTAGCGAGGACACCCTGATGGATGGCCCAGCTCGGATAGAGCCTCTCAG
Seq C2 exon
GGCAAGGAAGTGGAGCAACAGTCAGCCTGCAGATTTGGCACATATGGGGCGGTCAAGAGAAGACCCCGCTGGGATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125731_MULTIEX2-2/4=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=0.422 A=0.325 C2=1.000
Domain overlap (PFAM):

C1:
PF0001719=SH2=PU(9.9=34.8)
A:
PF0001719=SH2=PD(87.7=60.7)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTGGAAGACTGAGGCCTGT
R:
CCAGCGGGGTCTTCTCTTGA
Band lengths:
184-534
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development