HsaEX0057013 @ hg38
Exon Skipping
Gene
ENSG00000071537 | SEL1L
Description
SEL1L ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:10717]
Coordinates
chr14:81479612-81485746:-
Coord C1 exon
chr14:81485672-81485746
Coord A exon
chr14:81484225-81484397
Coord C2 exon
chr14:81479612-81479740
Length
173 bp
Sequences
Splice sites
3' ss Seq
GCATTTAACTTTTGTTTAAGGCT
3' ss Score
5.85
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GAGAAGCAAGCATTGTAGGTGAGAATGAAACTTATCCCAGAGCTTTGCTACATTGGAACAGGGCCGCCTCTCAAG
Seq A exon
GCTATACTGTGGCTAGAATTAAGCTCGGAGACTACCATTTCTATGGGTTTGGCACCGATGTAGATTATGAAACTGCATTTATTCATTACCGTCTGGCTTCTGAGCAGCAACACAGTGCACAAGCTATGTTTAATCTGGGATATATGCATGAGAAAGGACTGGGCATTAAACAG
Seq C2 exon
GATATTCACCTTGCGAAACGTTTTTATGACATGGCAGCTGAAGCCAGCCCAGATGCACAAGTTCCAGTCTTCCTAGCCCTCTGCAAATTGGGCGTCGTCTATTTCTTGCAGTACATACGGGAAACAAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000071537_CASSETTE1
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:
NO
A:
PF082387=Sel1=WD(100=62.1),PF082387=Sel1=PU(51.4=31.0)
C2:
PF082387=Sel1=PD(42.9=34.9)
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:
AGAAGCAAGCATTGTAGGTGAGA
R:
GTTTGTTTCCCGTATGTACTGCA
Band lengths:
203-376
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development