HsaEX0057017 @ hg38
Exon Skipping
Gene
ENSG00000101251 | SEL1L2
Description
SEL1L2 ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:15897]
Coordinates
chr20:13865167-13866850:-
Coord C1 exon
chr20:13866702-13866850
Coord A exon
chr20:13865349-13865514
Coord C2 exon
chr20:13865167-13865241
Length
166 bp
Sequences
Splice sites
3' ss Seq
ATTTCTCCTCTCATGTACAGCTT
3' ss Score
8.33
5' ss Seq
CTAGTAAGA
5' ss Score
5.2
Exon sequences
Seq C1 exon
CTGGCTCTGGAATATGGAAGGATTATAAACTTGCCTTCAAATATTTTTACCTGGCATCTCAGAGTGGGCAGCCCCTTGCCATTTATTATCTGGCCAAGATGTATGCAACAGGAACAGGAGTAGTAAGATCATGCAGAACTGCTGTGGAG
Seq A exon
CTTTATAAAGGTGTCTGTGAACTAGGCCACTGGGCTGAGAAATTCCTGACAGCTTACTTTGCCTATAAGGATGGTGATATAGATTCTTCTCTTGTTCAGTATGCACTGCTTGCAGAAATGGGGTATGAAGTAGCTCAAAGCAATTCAGCATTCATTTTGGAATCTA
Seq C2 exon
AAAAGGCTAACATTCTTGAAAAAGAGAAGATGTATCCAATGGCGCTTCTCCTATGGAATCGAGCTGCCATTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251_MULTIEX1-2/4=1-3
Average complexity
C2
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:
PF082387=Sel1=PD(63.9=46.0)
A:
NO
C2:
NO
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:
CTGGCTCTGGAATATGGAAGGA
R:
TGGCAGCTCGATTCCATAGGA
Band lengths:
218-384
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