Special

HsaEX0057921 @ hg19

Exon Skipping

Gene
ENSG00000125731 | SH2D3A
Description
SH2 domain containing 3A [Source:HGNC Symbol;Acc:16885]
Coordinates
chr19:6754842-6760998:-
Coord C1 exon
chr19:6760649-6760998
Coord A exon
chr19:6759605-6759681
Coord C2 exon
chr19:6754842-6755326
Length
77 bp
Sequences
Splice sites
3' ss Seq
CTCCCACTTCTGTCCCCCAGGGC
3' ss Score
10.88
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
AAGGCTGAAGCTCTTCTTCAGCAAAATGGCGACTTCCTGGTTCGCGCCTCTGGGTCCCGTGGGGGCAACCCCGTGATCTCCTGCCGCTGGCGGGGCTCAGCCCTCCATTTTGAGGTGTTCCGTGTGGCCCTGCGTCCCCGGCCAGGCCGACCCACAGCCCTCTTTCAACTGGAGGATGAGCAATTCCCCAGCATACCGGCTCTGGTTCACAGTTATATGACAGGCAGGCGCCCACTGTCCCAGGCCACAGGGGCTGTGGTCTCCAGGCCTGTGACTTGGCAGGGGCCTCTGCGACGCAGCTTTAGCGAGGACACCCTGATGGATGGCCCAGCTCGGATAGAGCCTCTCAG
Seq A exon
GGCAAGGAAGTGGAGCAACAGTCAGCCTGCAGATTTGGCACATATGGGGCGGTCAAGAGAAGACCCCGCTGGGATGG
Seq C2 exon
AAGCCTCCACCATGCCCATATCTGCCTTGCCCCGAACGAGCAGTGACCCGGTGTTGCTGAAGGCCCCTGCTCCCCTGGGAACTGTTGCCGACAGTCTCAGGGCCTCCGATGGGCAGCTTCAAGCCAAGGCACCAACGAAGCCCCCCCGGACACCCTCCTTCGAACTGCCTGATGCCTCTGAACGTCCCCCGACGTACTGCGAGCTGGTGCCCCGAGTGCCCAGTGTCCAGGGAACATCCCCGAGCCAAAGCTGCCCAGAGCCAGAGGCCCCATGGTGGGAGGCCGAGGAGGATGAGGAGGAAGAGAATAGATGTTTTACAAGACCACAGGCTGAGATCTCTTTCTGCCCCCATGATGCCCCCTCCTGCCTGCTGGGCCCCCAGAATCGGCCCCTGGAACCCCAAGTCCTGCATACCCTCCGTGGCCTGTTCCTGGAGCACCATCCTGGGAGCACCGCCCTTCACCTGCTATTGGTAGACTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125731_MULTIEX1-3/4=2-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.274 A=1.000 C2=0.660
Domain overlap (PFAM):

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


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
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:
AGTTATATGACAGGCAGGCGC
R:
GTTCGGGGCAAGGCAGATATG
Band lengths:
177-254
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