Special

HsaEX0057525 @ hg38

Exon Skipping

Gene
ENSG00000136169 | SETDB2
Description
SET domain bifurcated 2 [Source:HGNC Symbol;Acc:HGNC:20263]
Coordinates
chr13:49464021-49477039:+
Coord C1 exon
chr13:49464021-49464056
Coord A exon
chr13:49467864-49467960
Coord C2 exon
chr13:49476476-49477039
Length
97 bp
Sequences
Splice sites
3' ss Seq
CACATTATTTTTTTGTGTAGATC
3' ss Score
7.28
5' ss Seq
TCTGTATGT
5' ss Score
3.86
Exon sequences
Seq C1 exon
GAGCATCACAGAAAGAAGTGAATGCCCAAAGCAGTG
Seq A exon
ATCCTATGCCTGTGACTCAGAAGGAACAGGAAAACAAATCCAATGCATTTCCCTCTACATCATGTGAAAACTCCTTTCCAGAAGACTGTACATTTCT
Seq C2 exon
AACAACAGAAAATAAGGAAATTCTCTCTCTTGAAGATAAAGTTGTAGACTTTAGAGAAAAAGACTCATCTTCGAATTTATCTTACCAAAGTCATGACTGCTCTGGTGCTTGTCTGATGAAAATGCCACTGAACTTGAAGGGAGAAAACCCTCTGCAGCTGCCAATCAAATGTCACTTCCAAAGACGACATGCAAAGACAAACTCTCATTCTTCAGCACTCCACGTGAGTTATAAAACCCCTTGTGGAAGGAGTCTACGAAACGTGGAGGAAGTTTTTCGTTACCTGCTTGAGACAGAGTGTAACTTTTTATTTACAGATAACTTTTCTTTCAATACCTATGTTCAGTTGGCTCGGAATTACCCAAAGCAAAAAGAAGTTGTTTCTGATGTGGATATTAGCAATGGAGTGGAATCAGTGCCCATTTCTTTCTGTAATGAAATTGACAGTAGAAAGCTCCCACAGTTTAAGTACAGAAAGACTGTGTGGCCTCGAGCATATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169-'14-22,'14-16,20-22=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.846 A=0.576 C2=0.005
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0142914=MBD=WD(100=38.6),PF0503311=Pre-SET=PU(49.6=30.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
TCACAGAAAGAAGTGAATGCCCA
R:
CTCCCTTCAAGTTCAGTGGCA
Band lengths:
174-271
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