Special

HsaEX6077248 @ hg38

Exon Skipping

Gene
ENSG00000101251 | SEL1L2
Description
SEL1L2 ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:15897]
Coordinates
chr20:13876038-13885403:-
Coord C1 exon
chr20:13885347-13885403
Coord A exon
chr20:13877520-13877588
Coord C2 exon
chr20:13876038-13876115
Length
69 bp
Sequences
Splice sites
3' ss Seq
ACTGTTCCTTTTCTCTCCAGAAA
3' ss Score
11.2
5' ss Seq
AAGGTACAT
5' ss Score
7.87
Exon sequences
Seq C1 exon
GTCTCTCTTGGACAATTACATCTAATTGGCAGGAAAGGTCTAGATCAGGATTACTAC
Seq A exon
AAAGCATTACACTACTTCTTAAAGGCAGCAAAGGCCGGGAGTGCAAATGCCATGGCATTTATAGGAAAG
Seq C2 exon
ATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251-'21-23,'21-22,23-23=AN
Average complexity
A_C1
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(52.9=100)
A:
PF082387=Sel1=PD(38.2=56.5),PF082387=Sel1=PU(21.6=34.8)
C2:
PF082387=Sel1=FE(67.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTACATCTAATTGGCAGGAAAGGTCT
R:
TTACTGGCTGCCATGGAAAAGT
Band lengths:
119-188
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains