HsaEX6062437 @ hg38
Exon Skipping
Gene
ENSG00000165124 | SVEP1
Description
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:HGNC Symbol;Acc:HGNC:15985]
Coordinates
chr9:110431915-110434506:-
Coord C1 exon
chr9:110434336-110434506
Coord A exon
chr9:110432462-110432635
Coord C2 exon
chr9:110431915-110432034
Length
174 bp
Sequences
Splice sites
3' ss Seq
TCTTCCTGGTCACCTTACAGGCA
3' ss Score
8.54
5' ss Seq
TTGGTGAGA
5' ss Score
6.29
Exon sequences
Seq C1 exon
ATTGCCCACGCTTAGGAGGGTCAGTGCCTCATCTGAGAACTGCATCTGAAGATTTAAAGCCAGGTTCCAAAGTCAATCTGTTCTGTGATCCAGGCTTCCAGCTGGTCGGGAACCCTGTGCAGTACTGTCTGAATCAAGGACAGTGGACACAACCACTTCCTCACTGTGAAC
Seq A exon
GCATTAGCTGTGGGGTGCCACCTCCTTTGGAGAATGGCTTCCATTCAGCCGATGACTTCTATGCTGGCAGCACAGTAACCTACCAGTGCAACAATGGCTACTATCTATTGGGTGACTCAAGGATGTTCTGTACAGATAATGGGAGCTGGAACGGCGTTTCACCATCCTGCCTTG
Seq C2 exon
ATGTCGATGAGTGTGCAGTTGGATCAGATTGTAGTGAGCATGCTTCTTGCCTGAACGTAGATGGATCCTACATATGTTCATGTGTCCCACCGTACACAGGAGATGGGAAAAACTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165124-'53-81,'53-79,54-81=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.034 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PD(94.8=94.8)
A:
PF0008415=Sushi=WD(100=91.5),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGTCAGTGCCTCATCTGAGA
R:
ATCTCCTGTGTACGGTGGGAC
Band lengths:
258-432
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains