HsaEX6092599 @ hg38
Exon Skipping
Gene
ENSG00000090661 | CERS4
Description
ceramide synthase 4 [Source:HGNC Symbol;Acc:HGNC:23747]
Coordinates
chr19:8251044-8255655:+
Coord C1 exon
chr19:8251044-8251249
Coord A exon
chr19:8254499-8254616
Coord C2 exon
chr19:8255607-8255655
Length
118 bp
Sequences
Splice sites
3' ss Seq
TCTGTCTCCTTTGCACCCAGATT
3' ss Score
8.42
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
ACCTCCCAGCTAACTGGAACCTGTGTCCACAGAATGCTGTCCAGTTTCAACGAGTGGTTTTGGCAGGACAGGTTCTGGTTACCACCCAATGTCACGTGGACAGAGCTAGAAGACCGGGATGGCCGTGTCTACCCCCACCCCCAGGACTTGTTGGCAGCCCTGCCCCTGGCGCTGGTCCTCCTGGCCATGCGCCTTGCCTTTGAGAG
Seq A exon
ATTCATTGGCCTGCCCCTGAGCCGGTGGCTGGGTGTGAGGGATCAGACCAGGAGGCAAGTGAAGCCCAACGCCACGCTGGAGAAACACTTCCTCACGGAAGGGCACAGGCCCAAGGAG
Seq C2 exon
CCCCAGCTGTCTCTCCTGGCCGCCCAGTGTGGCCTCACGCTGCAGCAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090661-'26-41,'26-40,30-41
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.013 A=0.045 C2=0.006
Domain overlap (PFAM):
C1:
NO
A:
PF0004624=Homeobox=PU(44.6=62.5)
C2:
PF0004624=Homeobox=PD(51.8=72.5),PF0379811=TRAM_LAG1_CLN8=PU(2.6=12.5)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCTAACTGGAACCTGTGTCC
R:
CAGCGTGAGGCCACACTG
Band lengths:
242-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains