HsaEX6077253 @ hg38
Exon Skipping
Gene
ENSG00000101251 | SEL1L2
Description
SEL1L2 ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:15897]
Coordinates
chr20:13850191-13865241:-
Coord C1 exon
chr20:13865167-13865241
Coord A exon
chr20:13859262-13859434
Coord C2 exon
chr20:13850191-13850319
Length
173 bp
Sequences
Splice sites
3' ss Seq
TTCTCTAATATTTCTATCAGGCA
3' ss Score
6.45
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
AAAAGGCTAACATTCTTGAAAAAGAGAAGATGTATCCAATGGCGCTTCTCCTATGGAATCGAGCTGCCATTCAAG
Seq A exon
GCAATGCATTTGCTAGAGTAAAAATTGGAGATTACCATTACTATGGCTATGGGACTAAGAAAGACTATCAAACAGCAGCCACACACTACAGCATTGCAGCCAACAAATACCACAACGCGCAAGCCATGTTCAATCTGGCTTATATGTATGAACACGGCTTAGGCATCACAAAG
Seq C2 exon
GACATTCACTTGGCCAGAAGATTGTACGACATGGCTGCTCAAACGAGTCCAGATGCCCACATACCTGTGCTCTTTGCCGTCATGAAACTGGAAACTACGCATTTGCTCCGGGATATCCTGTTTTTTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251_MULTIEX1-4/4=3-C2
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=PU(52.9=31.0)
C2:
PF082387=Sel1=PD(41.2=32.6)
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:
AAGGCTAACATTCTTGAAAAAGAGA
R:
ACAGGATATCCCGGAGCAAATG
Band lengths:
194-367
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains