HsaEX6077250 @ hg38
Exon Skipping
Gene
ENSG00000101251 | SEL1L2
Description
SEL1L2 ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:15897]
Coordinates
chr20:13869503-13876115:-
Coord C1 exon
chr20:13876038-13876115
Coord A exon
chr20:13870141-13870203
Coord C2 exon
chr20:13869503-13869590
Length
63 bp
Sequences
Splice sites
3' ss Seq
GCTTTATAAAACTCTTCTAGGGC
3' ss Score
6.64
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
ATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAG
Seq A exon
GGCAATGCAATCGGCCTTCATGGGCTTGGTCTTCTTTACTTTCATGGAAAAGGAGTTCCCCTG
Seq C2 exon
AATTATGCCGAAGCACTTAAATACTTTCAGAAAGCTGCGGAAAAAGGGTGGCCCGACGCACAGTTCCAGTTAGGCTTCATGTACTACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251-'24-28,'24-26,27-28=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF082387=Sel1=FE(67.6=100)
A:
PF082387=Sel1=PD(2.7=4.8),PF082387=Sel1=PU(50.0=85.7)
C2:
PF082387=Sel1=PD(44.4=53.3),PF082387=Sel1=PU(33.3=40.0)
Main Skipping Isoform:
ENST00000284951fB25387
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGCCGCAAAATAACGCTAC
R:
AAGCCTAACTGGAACTGTGCG
Band lengths:
132-195
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains