Special

HsaEX6033420 @ hg38

Exon Skipping

Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150962974-150964083:+
Coord C1 exon
chr1:150962974-150963139
Coord A exon
chr1:150963530-150963741
Coord C2 exon
chr1:150963995-150964083
Length
212 bp
Sequences
Splice sites
3' ss Seq
CCATTCTCCCTCCTGTCCAGGTC
3' ss Score
10.07
5' ss Seq
AACGTGAGA
5' ss Score
5.13
Exon sequences
Seq C1 exon
GATGTCCTGACACTGTCCAGCAGCACAGAAAGTGAGGGGGAAAGTGGGACCAGCCGAAAGCCCACTGCTGGTCAGACTTCGGCTACAGCGGTTGACAGTGATGATATCCAGACCATATCCTCTGGCTCTGAAGGGGATGACTTTGAGGACAAGAAGAACATGACTG
Seq A exon
GTCCAATGAAGCGTCAAGTGGCAGTAAAATCAACCCGAGGCTTTGCTCTTAAATCAACCCATGGGATTGCAATTAAATCAACCAACATGGCCTCTGTGGACAAGGGGGAGAGCGCACCTGTTCGTAAGAACACACGCCAATTCTATGATGGCGAGGAGTCTTGCTACATCATTGATGCCAAGCTTGAAGGCAACCTGGGCCGCTACCTCAAC
Seq C2 exon
CACAGTTGCAGCCCCAACCTGTTTGTCCAGAATGTCTTCGTGGATACCCATGATCTTCGCTTCCCCTGGGTGGCCTTCTTTGCCAGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379-'53-52,'53-51,55-52=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.308 C2=0.000
Domain overlap (PFAM):

C1:
PF0085623=SET=FE(12.1=100)
A:
PF0085623=SET=FE(15.5=100)
C2:
PF0085623=SET=FE(6.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGTCCTGACACTGTCCAGC
R:
GCAAAGAAGGCCACCCAGG
Band lengths:
249-461
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains