HsaEX0035424 @ hg38
Exon Skipping
Gene
ENSG00000143418 | CERS2
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:HGNC:14076]
Coordinates
chr1:150967820-150968512:-
Coord C1 exon
chr1:150968395-150968512
Coord A exon
chr1:150968083-150968201
Coord C2 exon
chr1:150967820-150967877
Length
119 bp
Sequences
Splice sites
3' ss Seq
GGCTTCTTCACTGTGCCCAGGTG
3' ss Score
6.75
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
Exon sequences
Seq C1 exon
GTACGTGGCTACACCACTGGCTGCCCTCTTGAACATAAAGGAGAAAACTCGGCTGCGGGCACCTCCCAACGCCACCTTGGAACATTTCTACCTGACCAGTGGCAAGCAGCCCAAGCAG
Seq A exon
GTGGAAGTAGAGCTTTTGTCCCGGCAGAGCGGGCTCTCTGGCCGCCAGGTAGAGCGTTGGTTCCGTCGCCGCCGCAACCAGGACCGGCCCAGTCTCCTCAAGAAGTTCCGAGAAGCCAG
Seq C2 exon
CTGGAGATTCACATTTTACCTGATTGCCTTCATTGCCGGCATGGCCGTCATTGTGGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418_MULTIEX2-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.001 C2=0.000
Domain overlap (PFAM):
C1:
PF0004624=Homeobox=PU(46.6=67.5)
A:
PF0379811=TRAM_LAG1_CLN8=PU(2.6=16.1)
C2:
PF0379811=TRAM_LAG1_CLN8=FE(16.1=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTACACCACTGGCTGC
R:
ATCCACAATGACGGCCATGC
Band lengths:
170-289
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development