Special

HsaEX6077247 @ hg38

Exon Skipping

Gene
ENSG00000101251 | SEL1L2
Description
SEL1L2 ERAD E3 ligase adaptor subunit [Source:HGNC Symbol;Acc:HGNC:15897]
Coordinates
chr20:13885347-13887850:-
Coord C1 exon
chr20:13887769-13887850
Coord A exon
chr20:13886288-13886442
Coord C2 exon
chr20:13885347-13885403
Length
155 bp
Sequences
Splice sites
3' ss Seq
TGGCTTGTTTTTATTCACAGTTG
3' ss Score
7.65
5' ss Seq
CAAGTAATG
5' ss Score
2.09
Exon sequences
Seq C1 exon
GGGTACAGATATTTGTCGGGAATCAATGTTCTACAGAATTGTGAAGTTGCCCTAAGTTATTACAAGAAAGTGGCAGATTATA
Seq A exon
TTGCTGACACATTTGAAAAAAGTGAAGGTGTTCCAGTGGAAAAAGTGAGACTAACGGAAAGACCTGAAAATCTGAGTTCTAACAGTGAGATTTTGGATTGGGACATATACCAATACTATAAATTTTTGGCAGAAAGAGGAGATGTTCAGATACAA
Seq C2 exon
GTCTCTCTTGGACAATTACATCTAATTGGCAGGAAAGGTCTAGATCAGGATTACTAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251-'18-21,'18-20,20-21=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.026 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF082387=Sel1=PU(0.1=0.0)
C2:
PF082387=Sel1=FE(52.9=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)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGTACAGATATTTGTCGGGAA
R:
TAGTAATCCTGATCTAGACCTTTCCT
Band lengths:
138-293
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains