HsaEX6033428 @ hg38
Exon Skipping
Gene
ENSG00000143418 | CERS2
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:HGNC:14076]
Coordinates
chr1:150968395-150975004:-
Coord C1 exon
chr1:150974619-150975004
Coord A exon
chr1:150968918-150969091
Coord C2 exon
chr1:150968395-150968512
Length
174 bp
Sequences
Splice sites
3' ss Seq
CCCCTTTGCCCCTCACTCAGGAT
3' ss Score
7.61
5' ss Seq
GCTGTAAGC
5' ss Score
4.47
Exon sequences
Seq C1 exon
TAGCGCAAGGTGACGGGCGTGGACGCGGCTGTGGGGCCGGGAGCGGAGGGTTGGGGTCTGGCCTCCCGCGCCGGGGCGAAGGGGCAGCCGCAGCGCAGAGGCCCGCCCCGCCCTCCCCTCCCGTCACGCCCAGCCTCCCGGCCCTTGGGCTGCTCGCGGCCTTTTTTTCCCGGCTGGGCTCGGGCTCAGCTCGACTGGGCTCGGCGGGCGGCGGCGGCGGCGCCGGCGGCTGGCGGAGGAGGGAGGGCGAGGGCGGGCGCGGGCCGGCGGGCGGGCGGAAGAGGGAGGAGAGGCGCGGGGAGCCAGGCCTCGGGGCCTCGGAGCAACCACCCGAGCAGACGGAGTACACGGAGCAGCGGCCCCGGCCCCGCCAACGCTGCCGCCGG
Seq A exon
GATGCTCCAGACCTTGTATGATTACTTCTGGTGGGAACGTCTGTGGCTGCCTGTGAACTTGACCTGGGCCGATCTAGAAGACCGAGATGGACGTGTCTACGCCAAAGCCTCAGATCTCTATATCACGCTGCCCCTGGCCTTGCTCTTCCTCATCGTTCGATACTTCTTTGAGCT
Seq C2 exon
GTACGTGGCTACACCACTGGCTGCCCTCTTGAACATAAAGGAGAAAACTCGGCTGCGGGCACCTCCCAACGCCACCTTGGAACATTTCTACCTGACCAGTGGCAAGCAGCCCAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0004624=Homeobox=PU(46.6=67.5)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCTCGACTGGGCTCGG
R:
CGCAGCCGAGTTTTCTCCTTT
Band lengths:
257-431
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains