Special

HsaEX0057520 @ hg38

Exon Skipping

Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150960563-150962719:+
Coord C1 exon
chr1:150960563-150961191
Coord A exon
chr1:150962130-150962158
Coord C2 exon
chr1:150962587-150962719
Length
29 bp
Sequences
Splice sites
3' ss Seq
CTTCACTTGTTCTTTTCCAGGAC
3' ss Score
11.3
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
CCTCTGACAGCAGTGGTGTAGACTTGAAGGACCAGGAAGATGGCAACAGCGGTACAGAGGACCCTGAAGAGTCCAATGATGATAGCTCAGATGATAACTTCTGTAAGGATGAGGACTTCAGCACCAGTTCAGTGTGGCGGAGCTATGCTACCCGGAGGCAGACCCGGGGCCAGAAAGAGAACGGACTCTCTGAGACAACTTCCAAGGACTCCCACCCCCCAGATCTTGGACCCCCACATATTCCTGTTCCTCCCTCAATCCCTGTAGGTGGCTGCAATCCACCTTCCTCCGAAGAGACACCCAAGAACAAGGTGGCCTCATGGTTGAGCTGCAATAGTGTCAGTGAAGGTGGTTTTGCTGACTCTGATAGCCATTCATCCTTCAAGACTAATGAAGGTGGGGAGGGCCGGGCTGGGGGAAGCCGAATGGAGGCTGAGAAGGCCTCCACCTCAGGACTAGGCATCAAGGATGAGGGAGACATCAAACAGGCCAAGAAAGAG
Seq A exon
GACACTGACGACCGAAACAAGATGTCAGT
Seq C2 exon
AGTTACTGAAAGCTCTCGAAATTACGGTTACAATCCTTCTCCTGTGAAGCCTGAAGGACTTCGCCGCCCACCTAGTAAGACTAGTATGCATCAAAGCCGAAGACTCATGGCTTCTGCTCAGTCCAACCCTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379-'49-47,'49-46,50-47
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.767 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF0085623=SET=FE(46.1=100)
A:
PF0085623=SET=FE(2.0=100)
C2:
PF0085623=SET=FE(10.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
CCACCTCAGGACTAGGCATCA
R:
AGTCCTTCAGGCTTCACAGGA
Band lengths:
116-145
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