HsaEX0057016 @ hg38
Exon Skipping
Gene
ENSG00000101251 | SEL1L2
Description
SEL1L2 ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:15897]
Coordinates
chr20:13865167-13869590:-
Coord C1 exon
chr20:13869503-13869590
Coord A exon
chr20:13866702-13866850
Coord C2 exon
chr20:13865167-13865241
Length
149 bp
Sequences
Splice sites
3' ss Seq
AAAACAATTTTAATTTTCAGCTG
3' ss Score
7.41
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
Exon sequences
Seq C1 exon
AATTATGCCGAAGCACTTAAATACTTTCAGAAAGCTGCGGAAAAAGGGTGGCCCGACGCACAGTTCCAGTTAGGCTTCATGTACTACT
Seq A exon
CTGGCTCTGGAATATGGAAGGATTATAAACTTGCCTTCAAATATTTTTACCTGGCATCTCAGAGTGGGCAGCCCCTTGCCATTTATTATCTGGCCAAGATGTATGCAACAGGAACAGGAGTAGTAAGATCATGCAGAACTGCTGTGGAG
Seq C2 exon
AAAAGGCTAACATTCTTGAAAAAGAGAAGATGTATCCAATGGCGCTTCTCCTATGGAATCGAGCTGCCATTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251_MULTIEX1-1/4=C1-3
Average complexity
C2
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(44.4=53.3),PF082387=Sel1=PU(33.3=40.0)
A:
PF082387=Sel1=PD(63.9=46.0)
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCGAAGCACTTAAATACTTTCA
R:
TTGAATGGCAGCTCGATTCCA
Band lengths:
157-306
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development