Special

HsaEX0057516 @ hg38

Exon Skipping

Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150949370-150951481:+
Coord C1 exon
chr1:150949370-150949525
Coord A exon
chr1:150950458-150951090
Coord C2 exon
chr1:150951365-150951481
Length
633 bp
Sequences
Splice sites
3' ss Seq
CACTTGCATCTCATTTGCAGATC
3' ss Score
9.24
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
Exon sequences
Seq C1 exon
CTTGGAAAGCCAGCTTGCCCAGTCACGGAAGCAGGTAGCCAAAAAGAGCACGTCCTTTCGACCAGGATCTGTGGGCTCTGGTCATTCCTCCCCTACATCTCCTGCACTCAGTGAAAATGTCTCTGGTGGGAAACCTGGGATCAACCAGACATATAG
Seq A exon
ATCACCTTTAGGCTCCACAGCCTCTGCCCCAGCACCCTCAGCACTCCCGGCCCCTCCAGCACCCCCAGTCTTCCATGGCATGCTGGAGCGGGCCCCAGCAGAGCCCTCCTACCGTGCTCCCATGGAGAAGCTTTTCTACTTACCTCATGTCTGCAGCTATACCTGTCTGTCTCGAGTCAGACCTATGAGGAATGAGCAGTACCGGGGCAAGAACCCTCTGCTGGTCCCGTTACTATATGACTTCCGGCGGATGACAGCCCGGCGTCGAGTTAACCGCAAGATGGGCTTTCATGTTATCTATAAGACACCTTGTGGTCTCTGCCTTCGGACAATGCAGGAGATAGAACGCTACCTTTTCGAGACTGGCTGTGACTTCCTCTTCCTGGAGATGTTCTGTTTGGATCCATATGTTCTTGTGGACCGAAAGTTTCAGCCCTATAAGCCTTTTTACTATATTTTGGACATCACTTATGGGAAGGAAGATGTTCCCCTATCCTGTGTCAATGAGATTGACACAACCCCTCCACCCCAGGTGGCCTACAGCAAGGAACGTATCCCGGGCAAGGGTGTTTTCATTAACACAGGCCCTGAATTTCTGGTTGGCTGTGACTGCAAGGATGGGTGTCGGGACAA
Seq C2 exon
GTCCAAGTGTGCCTGCCATCAACTAACTATCCAGGCTACAGCCTGTACCCCAGGAGGCCAAATCAACCCTAACTCTGGCTACCAGTACAAGAGACTAGAAGAGTGTCTACCCACAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379_MULTIEX1-11/16=10-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.162 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0142914=MBD=WD(100=35.4),PF0503311=Pre-SET=PU(49.6=26.9)
C2:
PF0503311=Pre-SET=FE(33.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAAGCCAGCTTGCCCAG
R:
CCTGTGGGTAGACACTCTTCT
Band lengths:
270-903
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