HsaEX6077251 @ hg38
Exon Skipping
Gene
ENSG00000101251 | SEL1L2
Description
SEL1L2 ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:15897]
Coordinates
chr20:13866702-13870184:-
Coord C1 exon
chr20:13870141-13870184
Coord A exon
chr20:13869503-13869590
Coord C2 exon
chr20:13866702-13866850
Length
88 bp
Sequences
Splice sites
3' ss Seq
AGAGTGTAATTATCTTGCAGAAT
3' ss Score
6.31
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
Exon sequences
Seq C1 exon
ATGGGCTTGGTCTTCTTTACTTTCATGGAAAAGGAGTTCCCCTG
Seq A exon
AATTATGCCGAAGCACTTAAATACTTTCAGAAAGCTGCGGAAAAAGGGTGGCCCGACGCACAGTTCCAGTTAGGCTTCATGTACTACT
Seq C2 exon
CTGGCTCTGGAATATGGAAGGATTATAAACTTGCCTTCAAATATTTTTACCTGGCATCTCAGAGTGGGCAGCCCCTTGCCATTTATTATCTGGCCAAGATGTATGCAACAGGAACAGGAGTAGTAAGATCATGCAGAACTGCTGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251-'27-29,'27-28,28-29=AN
Average complexity
A_C1
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 Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATGGAAAAGGAGTTCCCCTG
R:
CTCCACAGCAGTTCTGCATGA
Band lengths:
171-259
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains