Special

HsaEX0057017 @ hg19

Exon Skipping

Gene
ENSG00000101251 | SEL1L2
Description
sel-1 suppressor of lin-12-like 2 (C. elegans) [Source:HGNC Symbol;Acc:15897]
Coordinates
chr20:13845813-13850236:-
Coord C1 exon
chr20:13850149-13850236
Coord A exon
chr20:13845995-13846160
Coord C2 exon
chr20:13845813-13845887
Length
166 bp
Sequences
Splice sites
3' ss Seq
ATTTCTCCTCTCATGTACAGCTT
3' ss Score
8.33
5' ss Seq
CTAGTAAGA
5' ss Score
5.2
Exon sequences
Seq C1 exon
AATTATGCCGAAGCACTTAAATACTTTCAGAAAGCTGCGGAAAAAGGGTGGCCCGACGCACAGTTCCAGTTAGGCTTCATGTACTACT
Seq A exon
CTTTATAAAGGTGTCTGTGAACTAGGCCACTGGGCTGAGAAATTCCTGACAGCTTACTTTGCCTATAAGGATGGTGATATAGATTCTTCTCTTGTTCAGTATGCACTGCTTGCAGAAATGGGGTATGAAGTAGCTCAAAGCAATTCAGCATTCATTTTGGAATCTA
Seq C2 exon
AAAAGGCTAACATTCTTGAAAAAGAGAAGATGTATCCAATGGCGCTTCTCCTATGGAATCGAGCTGCCATTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101251_MULTIEX1-2/2=C1-C2
Average complexity
C2
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:
PF082387=Sel1=PD(44.4=53.3),PF082387=Sel1=PU(33.3=40.0)
A:
PF082387=Sel1=PD(25.0=16.1)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCGAAGCACTTAAATACTTTCA
R:
TTGAATGGCAGCTCGATTCCA
Band lengths:
157-323
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development