Special

HsaEX0068785 @ hg38

Exon Skipping

Gene
ENSG00000140367 | UBE2Q2
Description
ubiquitin conjugating enzyme E2 Q2 [Source:HGNC Symbol;Acc:HGNC:19248]
Coordinates
chr15:75883366-75891014:+
Coord C1 exon
chr15:75883366-75883424
Coord A exon
chr15:75890435-75890483
Coord C2 exon
chr15:75890919-75891014
Length
49 bp
Sequences
Splice sites
3' ss Seq
ACTCCTTTTTTCTTTTTAAGGTA
3' ss Score
12.83
5' ss Seq
CAGGTGACT
5' ss Score
6.6
Exon sequences
Seq C1 exon
GATAACTTTCCATTTGATCCTCCATTTGTTCGAGTGGTGTTACCTGTTCTCTCAGGAGG
Seq A exon
GTATGTATTGGGTGGAGGAGCATTATGTATGGAACTTCTCACAAAACAG
Seq C2 exon
GGCTGGAGCAGTGCCTACTCAATAGAATCGGTCATCATGCAAATAAATGCCACCTTAGTCAAAGGCAAAGCCAGAGTGCAGTTTGGAGCAAATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140367-'34-31,'34-30,40-31
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.019 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0017921=UQ_con=FE(12.2=100)
A:
PF0017921=UQ_con=FE(10.3=100)
C2:
PF0017921=UQ_con=FE(19.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000267938fB7480


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCCATTTGTTCGAGTGGTGT
R:
TTGCTCCAAACTGCACTCTGG
Band lengths:
132-181
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