Special

HsaEX6062450 @ hg19

Exon Skipping

Gene
Description
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:HGNC Symbol;Acc:15985]
Coordinates
chr9:113132203-113139646:-
Coord C1 exon
chr9:113139551-113139646
Coord A exon
chr9:113137648-113137743
Coord C2 exon
chr9:113132203-113132296
Length
96 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTTAGCAA
3' ss Score
10.42
5' ss Seq
CAGGTAGGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
CTGTCTGTCGATTTCCATGTCAGAATGGGGGCATCTGCCAACGCCCAAATGCTTGTTCCTGTCCAGAGGGCTGGATGGGGCGCCTCTGTGAAGAAC
Seq A exon
CAATCTGCATTCTTCCCTGTCTGAACGGAGGTCGCTGTGTGGCCCCTTACCAGTGTGACTGCCCGCCTGGCTGGACGGGGTCTCGCTGTCATACAG
Seq C2 exon
CTGTTTGCCAGTCTCCCTGCTTAAATGGTGGAAAATGTGTAAGACCAAACCGATGTCACTGTCTTTCTTCTTGGACGGGACATAACTGTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165124-'51-50,'51-49,53-50=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:
PF0000822=EGF=PD(90.3=84.8),PF0000822=EGF=PU(9.4=9.1)
A:
PF0000822=EGF=PD(87.5=84.8)
C2:
PF079748=EGF_2=WD(100=87.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATGTCAGAATGGGGGCATC
R:
GGAACAGTTATGTCCCGTCCA
Band lengths:
174-270
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains