HsaEX6072407 @ hg38
Exon Skipping
Gene
ENSG00000071537 | SEL1L
Description
SEL1L ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:10717]
Coordinates
chr14:81487390-81489314:-
Coord C1 exon
chr14:81489252-81489314
Coord A exon
chr14:81487855-81487942
Coord C2 exon
chr14:81487390-81487538
Length
88 bp
Sequences
Splice sites
3' ss Seq
TATGACATCTTTTTCTACAGAAT
3' ss Score
9.17
5' ss Seq
ATAGTAAGT
5' ss Score
8.65
Exon sequences
Seq C1 exon
GGCAACCCAGTTGGACAGAGTGGGCTTGGAATGGCCTACCTCTATGGGAGAGGAGTTCAAGTT
Seq A exon
AATTATGATCTAGCCCTTAAGTATTTCCAGAAAGCTGCTGAACAAGGCTGGGTGGATGGGCAGCTACAGCTTGGTTCCATGTACTATA
Seq C2 exon
ATGGCATTGGAGTCAAGAGAGATTATAAACAGGCCTTGAAGTATTTTAATTTAGCTTCTCAGGGAGGCCATATCTTGGCTTTCTATAACCTAGCTCAGATGCATGCCAGTGGCACCGGCGTGATGCGATCATGTCACACTGCAGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000071537_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF082387=Sel1=PD(2.7=4.8),PF082387=Sel1=PU(50.0=85.7)
A:
PF082387=Sel1=PD(44.4=53.3),PF082387=Sel1=PU(33.3=40.0)
C2:
PF082387=Sel1=PD(63.9=46.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAACCCAGTTGGACAGAGTGG
R:
CTGGCATGCATCTGAGCTAGG
Band lengths:
170-258
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains