HsaEX6062451 @ 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
chr9:110365251-110375463:-
Coord C1 exon
chr9:110375368-110375463
Coord A exon
chr9:110369923-110370016
Coord C2 exon
chr9:110365251-110366560
Length
94 bp
Sequences
Splice sites
3' ss Seq
GCATGGGTTTTTTATTCCAGCTG
3' ss Score
6.84
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
CAATCTGCATTCTTCCCTGTCTGAACGGAGGTCGCTGTGTGGCCCCTTACCAGTGTGACTGCCCGCCTGGCTGGACGGGGTCTCGCTGTCATACAG
Seq A exon
CTGTTTGCCAGTCTCCCTGCTTAAATGGTGGAAAATGTGTAAGACCAAACCGATGTCACTGTCTTTCTTCTTGGACGGGACATAACTGTTCCAG
Seq C2 exon
GAAAAGGAGGACTGGGTTTTAACCACTGCACGACCATCTGGCTCTCCCAAAAGCAGGATCATCTCTCCTCGGTAGTGCCTGGGCATCCTGGAACTTATGCAAAGAAAGTCCAACATGGTGCTGGGTCTTGTTTAGTAAACTTGTTACTTGGGGTTACTTTTTTTATTTTGTGATATATTTTGTTATTCCTTGTGACATACTTTCTTACATGTTTCCATTTTTAAATATGCCTGTATTTTCTATATAAAAATTATATTAAATAGATGCTGCTCTACCCTCACAAAATGTACATATTCTGCTGTCTATTGGGAAAGTTCCTGGTACACATTTTTATTCAGTTACTTAAAATGATTTTTCCATTAAAGTATATTTTGCTACTAAATAATATTTTGCTGGATAGTACCATTTTATGAGGTGGCCAAGGGATTCATAGAGAGGACTCATGATCTTTCATCTGTGCCACTGGCACCACATAGGAGACCCCTTACAATAAAGGAGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165124-'84-113,'84-111,85-113=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(87.5=84.8)
A:
PF079748=EGF_2=WD(100=87.5)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTCCCTGTCTGAACGGAGG
R:
CAGGCACTACCGAGGAGAGAT
Band lengths:
167-261
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains