Special

HsaEX0057527 @ hg38

Exon Skipping

Gene
ENSG00000136169 | SETDB2
Description
SET domain bifurcated 2 [Source:HGNC Symbol;Acc:HGNC:20263]
Coordinates
chr13:49461097-49467960:+
Coord C1 exon
chr13:49461097-49461162
Coord A exon
chr13:49464021-49464056
Coord C2 exon
chr13:49467864-49467960
Length
36 bp
Sequences
Splice sites
3' ss Seq
TTTAATTCCCTGCCTCACAGGAG
3' ss Score
8.17
5' ss Seq
GTGGTGAGA
5' ss Score
5.46
Exon sequences
Seq C1 exon
AATACATCCAAGCAATGATTCTAGTGAATGAAGCAACTATAATTAACAGTTCAACATCAATAAAGG
Seq A exon
GAGCATCACAGAAAGAAGTGAATGCCCAAAGCAGTG
Seq C2 exon
ATCCTATGCCTGTGACTCAGAAGGAACAGGAAAACAAATCCAATGCATTTCCCTCTACATCATGTGAAAACTCCTTTCCAGAAGACTGTACATTTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169-'12-16,'12-13,14-16
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.087 A=0.846 C2=0.576
Domain overlap (PFAM):

C1:
PF0109514=Pectinesterase=FE(25.6=100)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
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:
ACATCCAAGCAATGATTCTAGTGA
R:
TGATGTAGAGGGAAATGCATTGGA
Band lengths:
125-161
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development