Special

HsaEX6077252 @ hg38

Exon Skipping

Gene
ENSG00000101251 | SEL1L2
Description
SEL1L2 ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:15897]
Coordinates
chr20:13850191-13869590:-
Coord C1 exon
chr20:13869503-13869590
Coord A exon
chr20:13865167-13865241
Coord C2 exon
chr20:13850191-13850319
Length
75 bp
Sequences
Splice sites
3' ss Seq
GGAATGTCTCCTCTTTTTAGAAA
3' ss Score
7.76
5' ss Seq
AAGGTATGG
5' ss Score
9.26
Exon sequences
Seq C1 exon
AATTATGCCGAAGCACTTAAATACTTTCAGAAAGCTGCGGAAAAAGGGTGGCCCGACGCACAGTTCCAGTTAGGCTTCATGTACTACT
Seq A exon
AAAAGGCTAACATTCTTGAAAAAGAGAAGATGTATCCAATGGCGCTTCTCCTATGGAATCGAGCTGCCATTCAAG
Seq C2 exon
GACATTCACTTGGCCAGAAGATTGTACGACATGGCTGCTCAAACGAGTCCAGATGCCCACATACCTGTGCTCTTTGCCGTCATGAAACTGGAAACTACGCATTTGCTCCGGGATATCCTGTTTTTTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251_MULTIEX1-3/4=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (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(44.4=53.3),PF082387=Sel1=PU(33.3=40.0)
A:
NO
C2:
PF082387=Sel1=PD(41.2=32.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAAGCTGCGGAAAAAGGGT
R:
AGGATATCCCGGAGCAAATGC
Band lengths:
179-254
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains