Special

HsaEX0057920 @ hg19

Exon Skipping

Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:16885]
Coordinates
chr19:6759605-6763827:-
Coord C1 exon
chr19:6763716-6763827
Coord A exon
chr19:6760649-6760998
Coord C2 exon
chr19:6759605-6759681
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_MULTIEX1-2/4=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=0.512 A=0.274 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
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:
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