HsaEX0057523 @ hg38
Exon Skipping
Gene
ENSG00000136169 | SETDB2
Description
SET domain bifurcated 2 [Source:HGNC Symbol;Acc:HGNC:20263]
Coordinates
chr13:49444374-49460232:+
Coord C1 exon
chr13:49444374-49444857
Coord A exon
chr13:49451553-49451909
Coord C2 exon
chr13:49460107-49460232
Length
357 bp
Sequences
Splice sites
3' ss Seq
CTTTATTGTTTTCCTTACAGAAT
3' ss Score
10.51
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
Exon sequences
Seq C1 exon
CCTGCGCTCGGGAGGTTTGGGCGGCTTGGCGTCGGAGGAGAGCCCCACCCGCGGAGGAACCCAGCCTTGCCAACGGAGCTGGCGGAGCTCACTCCTCAGGTCAGGCGGGCGGCGTAGAAAACGCAGCGGAGCCAGGTGAAACCAAGGCACCGCCGTGGCTGGCCCCCGACAGTTCCTCTAGCCGGGAGGTTGGAGGAGCTGAAAACGCCGCGGAGCCCTCGGCCGCCCGAGCAGGGGCTGGACCCCAGCCCTTGCAGCCTCCCTTCTCCTGGCACCCAAGTGCAGTCCTGGCTGCAGAAGGGGCCGCGGGCGCACTGAGTTTCCAACCTCCATTTCAGCCTGTCTGTCTCAGGGTGCAGCCTTAATGAGAGGTGATTCCTAAGCTGCTGGGAACCTGAGGTTGTCAAAGGGGCGGCAGGAAATGGACAGCAGTATAAAACCCAGAAGCAGAACTTGAAGGTTAAACCACTAGCCCATTTCACAG
Seq A exon
AATGTTTCATCCATTTGTGGACCAAAAGATGGAGTTGGTTTTTATTTTTAAAAAGATAATGTTAATGATCTGATACCACTACAAATATTTACGTGAGAAGATTCATGGACTTGTCTTTTGGTTGGACTGTCACTCATTTCTGAAAGTTTCTTCAGCCACAATTTCTATTTGAAAATTCAAGTATCAAAGGATACCAGGTTTAGAATGGTATAATGATGTATTTTGTCTGAGGACTGCAAATTTTATAGAGACCACAGTTGGATTCCAGTGATATTCTGCAATCAAAGTGATTTGATAAACCTAATTTTGAAGCATTTTATATTTATAAGCGACATCAAAAGATGGGAGAAAAAAATG
Seq C2 exon
GCGATGCAAAAACTTTCTGGATGGAGCTAGAAGATGATGGAAAAGTGGACTTCATTTTTGAACAAGTACAAAATGTGCTGCAGTCACTGAAACAAAAGATCAAAGATGGGTCTGCCACCAATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169-'0-10,'0-3,8-10
Average complexity
C1
Mappability confidence:
94%=100=90%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.260 C2=0.120
Domain overlap (PFAM):
C1:
NA
A:
PF0109514=Pectinesterase=PU(0.1=0.0)
C2:
PF0109514=Pectinesterase=PU(48.8=97.7)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
GACAGTTCCTCTAGCCGGGAG
R:
GCTCCATCCAGAAAGTTTTTGCA
Band lengths:
344-701
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