Special

HsaEX6040354 @ hg38

Exon Skipping

Gene
ENSG00000136169 | SETDB2
Description
SET domain bifurcated 2 [Source:HGNC Symbol;Acc:HGNC:20263]
Coordinates
chr13:49460107-49464056:+
Coord C1 exon
chr13:49460107-49460232
Coord A exon
chr13:49461097-49461162
Coord C2 exon
chr13:49464021-49464056
Length
66 bp
Sequences
Splice sites
3' ss Seq
TGTTTTTCTGTCTTTAACAGAAT
3' ss Score
11.74
5' ss Seq
AGGGTATGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
GCGATGCAAAAACTTTCTGGATGGAGCTAGAAGATGATGGAAAAGTGGACTTCATTTTTGAACAAGTACAAAATGTGCTGCAGTCACTGAAACAAAAGATCAAAGATGGGTCTGCCACCAATAAAG
Seq A exon
AATACATCCAAGCAATGATTCTAGTGAATGAAGCAACTATAATTAACAGTTCAACATCAATAAAGG
Seq C2 exon
GAGCATCACAGAAAGAAGTGAATGCCCAAAGCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169-'11-13,'11-11,12-13=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.120 A=0.087 C2=0.846
Domain overlap (PFAM):

C1:
PF0109514=Pectinesterase=PU(48.8=97.7)
A:
PF0109514=Pectinesterase=FE(25.6=100)
C2:
NO


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:
GCGATGCAAAAACTTTCTGGA
R:
TGGGCATTCACTTCTTTCTGTGA
Band lengths:
154-220
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains