HsaEX0057534 @ hg38
Exon Skipping
Gene
ENSG00000136169 | SETDB2
Description
SET domain bifurcated 2 [Source:HGNC Symbol;Acc:HGNC:20263]
Coordinates
chr13:49483464-49488630:+
Coord C1 exon
chr13:49483464-49483563
Coord A exon
chr13:49485630-49485723
Coord C2 exon
chr13:49488290-49488630
Length
94 bp
Sequences
Splice sites
3' ss Seq
ATCTTCCTTGTTTTTTTAAGGAA
3' ss Score
9.69
5' ss Seq
AAAGTAGGC
5' ss Score
5
Exon sequences
Seq C1 exon
GGAAACGAAATATGATAATATTTCAAGAATTCAATATCATTCAGTTATTAGAGATCCTGAATCCAAGACAGCCATTTTTCAACACAATGGGAAAAAAATG
Seq A exon
GAATTTGTTTCCTCGGAGTCTGTCACTCCAGAAGATAATGATGGATTTAAACCACCCCGAGAGCATCTGAACTCTAAAACCAAGGGAGCACAAA
Seq C2 exon
AGGACTCAAGTTCAAACCATGTTGATGAGTTTGAAGATAATCTGCTGATTGAATCAGATGTGATAGATATAACTAAATATAGAGAAGAAACTCCACCAAGGAGCAGATGTAACCAGGCGACCACATTGGATAATCAGAATATTAAAAAGGCAATTGAGGTTCAAATTCAGAAACCCCAAGAGGGACGATCTACAGCATGTCAAAGACAGCAGGTATTTTGTGATGAAGAGTTGCTAAGTGAAACCAAGAATACTTCATCTGATTCTCTAACAAAGTTCAATAAAGGGAATGTGTTTTTATTGGATGCCACAAAAGAAGGAAATGTCGGCCGCTTCCTTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169-'34-34,'34-31,37-34
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.412 A=0.927 C2=0.401
Domain overlap (PFAM):
C1:
PF0085623=SET=FE(20.1=100)
A:
PF0085623=SET=FE(10.2=100)
C2:
PF0085623=SET=FE(35.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATCCTGAATCCAAGACAGCCA
R:
GTGGTCGCCTGGTTACATCTG
Band lengths:
172-266
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development