Special

HsaEX0057536 @ hg38

Exon Skipping

Gene
ENSG00000136169 | SETDB2
Description
SET domain bifurcated 2 [Source:HGNC Symbol;Acc:HGNC:20263]
Coordinates
chr13:49488290-49495003:+
Coord C1 exon
chr13:49488290-49488630
Coord A exon
chr13:49490822-49490910
Coord C2 exon
chr13:49491732-49495003
Length
89 bp
Sequences
Splice sites
3' ss Seq
TGTTTATTTTTATTTAACAGCAT
3' ss Score
8.62
5' ss Seq
CAGGTTTGA
5' ss Score
5.11
Exon sequences
Seq C1 exon
AGGACTCAAGTTCAAACCATGTTGATGAGTTTGAAGATAATCTGCTGATTGAATCAGATGTGATAGATATAACTAAATATAGAGAAGAAACTCCACCAAGGAGCAGATGTAACCAGGCGACCACATTGGATAATCAGAATATTAAAAAGGCAATTGAGGTTCAAATTCAGAAACCCCAAGAGGGACGATCTACAGCATGTCAAAGACAGCAGGTATTTTGTGATGAAGAGTTGCTAAGTGAAACCAAGAATACTTCATCTGATTCTCTAACAAAGTTCAATAAAGGGAATGTGTTTTTATTGGATGCCACAAAAGAAGGAAATGTCGGCCGCTTCCTTAAT
Seq A exon
CATAGTTGTTGCCCAAATCTCTTGGTACAGAATGTTTTTGTAGAAACACACAACAGGAATTTTCCATTGGTGGCATTCTTCACCAACAG
Seq C2 exon
GTATGTGAAAGCAAGAACAGAGCTAACATGGGATTATGGCTATGAAGCTGGGACTGTGCCTGAGAAGGAAATCTTCTGCCAATGTGGGGTTAATAAATGTAGAAAAAAAATATTATAAATATGTAACTAACGCCTGTTTGTGAAATTAGCTTATCAGGCTGAAATTAAAGCCATGCAAAAGAAGGTCTAGGTCCATCAAGGAAATTCCCCTCCGTTTTCCTTTGTCATGGGGTTTATGTTTTATTTCAGATTTTATTTGTGTGACTTAGAAATTCCAGGAACACAATTAGGATATTTTCATACACATAGGGTATCTTGTTCACTGCTGTGCTACTTTACATGAGTAGGATGGAAGTGTATATTTTATATGAAATACCACTGTACAATTTATAATTTATTTACAAATTATATATTAAGAGAAACAAATGTCATAACAGAACTCAGCTGTTTCTAATTGCTTTTGTGACTGTTACCTTTTAGTTCATGCCCCCCCAAAGAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169-'40-41,'40-38,44-41
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.401 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0085623=SET=FE(35.6=100)
A:
PF0085623=SET=FE(9.1=100)
C2:
PF0085623=SET=PD(4.1=32.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
GAAATGTCGGCCGCTTCCTTA
R:
AGCTAATTTCACAAACAGGCGT
Band lengths:
174-263
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