Special

HsaEX0057535 @ hg19

Exon Skipping

Gene
ENSG00000136169 | SETDB2
Description
SET domain, bifurcated 2 [Source:HGNC Symbol;Acc:20263]
Coordinates
chr13:50059766-50066306:+
Coord C1 exon
chr13:50059766-50059859
Coord A exon
chr13:50062426-50062766
Coord C2 exon
chr13:50065868-50066306
Length
341 bp
Sequences
Splice sites
3' ss Seq
CCTTCCAAAATGTCTATTAGAGG
3' ss Score
3.02
5' ss Seq
AATGTGAGT
5' ss Score
7.8
Exon sequences
Seq C1 exon
GAATTTGTTTCCTCGGAGTCTGTCACTCCAGAAGATAATGATGGATTTAAACCACCCCGAGAGCATCTGAACTCTAAAACCAAGGGAGCACAAA
Seq A exon
AGGACTCAAGTTCAAACCATGTTGATGAGTTTGAAGATAATCTGCTGATTGAATCAGATGTGATAGATATAACTAAATATAGAGAAGAAACTCCACCAAGGAGCAGATGTAACCAGGCGACCACATTGGATAATCAGAATATTAAAAAGGCAATTGAGGTTCAAATTCAGAAACCCCAAGAGGGACGATCTACAGCATGTCAAAGACAGCAGGTATTTTGTGATGAAGAGTTGCTAAGTGAAACCAAGAATACTTCATCTGATTCTCTAACAAAGTTCAATAAAGGGAATGTGTTTTTATTGGATGCCACAAAAGAAGGAAATGTCGGCCGCTTCCTTAAT
Seq C2 exon
GTATGTGAAAGCAAGAACAGAGCTAACATGGGATTATGGCTATGAAGCTGGGACTGTGCCTGAGAAGGAAATCTTCTGCCAATGTGGGGTTAATAAATGTAGAAAAAAAATATTATAAATATGTAACTAACGCCTGTTTGTGAAATTAGCTTATCAGGCTGAAATTAAAGCCATGCAAAAGAAGGTCTAGGTCCATCAAGGAAATTCCCCTCCGTTTTCCTTTGTCATGGGGTTTATGTTTTATTTCAGATTTTATTTGTGTGACTTAGAAATTCCAGGAACACAATTAGGATATTTTCATACACATAGGGTATCTTGTTCACTGCTGTGCTACTTTACATGAGTAGGATGGAAGTGTATATTTTATATGAAATACCACTGTACAATTTATAATTTATTTACAAATTATATATTAAGAGAAACAAATGTCATAACAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169_MULTIEX1-7/8=6-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.870 A=0.395 C2=0.000
Domain overlap (PFAM):

C1:
PF0085623=SET=PD(20.7=61.8)
A:
PF0085623=SET=FE(35.6=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:
ACTCTAAAACCAAGGGAGCACA
R:
ACAGCAGTGAACAAGATACCCT
Band lengths:
353-694
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