Special

HsaEX6062448 @ hg19

Exon Skipping

Gene
Description
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:HGNC Symbol;Acc:15985]
Coordinates
chr9:113139551-113148354:-
Coord C1 exon
chr9:113148178-113148354
Coord A exon
chr9:113141627-113141797
Coord C2 exon
chr9:113139551-113139646
Length
171 bp
Sequences
Splice sites
3' ss Seq
GTTGTTTTGTTATCCTGTAGAAA
3' ss Score
8.38
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
CAAATCCATGCCCTGTTCCTTTTGTGATTCCCGAGAATGCTCTGCTGTCTGAAAAGGAGTTTTATGTTGATCAGAATGTGTCCATCAAATGTAGGGAAGGTTTTCTGCTGCAGGGCCACGGCATCATTACCTGCAACCCCGACGAGACGTGGACACAGACAAGCGCCAAATGTGAAA
Seq A exon
AAATCTCATGTGGTCCACCAGCTCACGTAGAAAATGCAATTGCTCGAGGCGTACATTATCAATATGGAGACATGATCACCTACTCATGTTACAGTGGATACATGTTGGAGGGTTTCCTGAGGAGTGTTTGTTTAGAAAATGGAACATGGACATCACCTCCTATTTGCAGAG
Seq C2 exon
CTGTCTGTCGATTTCCATGTCAGAATGGGGGCATCTGCCAACGCCCAAATGCTTGTTCCTGTCCAGAGGGCTGGATGGGGCGCCTCTGTGAAGAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165124-'49-48,'49-46,50-48=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0008415=Sushi=WD(100=91.7)
A:
PF0008415=Sushi=WD(100=91.4),PF0000822=EGF=PU(6.5=3.4)
C2:
PF0000822=EGF=PD(90.3=84.8),PF0000822=EGF=PU(9.4=9.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCATGCCCTGTTCCTTTTGT
R:
AGCCCTCTGGACAGGAACAAG
Band lengths:
245-416
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains