HsaEX6033429 @ hg38
Exon Skipping
Gene
ENSG00000143418 | CERS2
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:HGNC:14076]
Coordinates
chr1:150968083-150969112:-
Coord C1 exon
chr1:150968918-150969112
Coord A exon
chr1:150968395-150968512
Coord C2 exon
chr1:150968083-150968201
Length
118 bp
Sequences
Splice sites
3' ss Seq
TACTCATATCCCTTCCCCAGGTA
3' ss Score
9.15
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
TCCCCTTTGCCCCTCACTCAGGATGCTCCAGACCTTGTATGATTACTTCTGGTGGGAACGTCTGTGGCTGCCTGTGAACTTGACCTGGGCCGATCTAGAAGACCGAGATGGACGTGTCTACGCCAAAGCCTCAGATCTCTATATCACGCTGCCCCTGGCCTTGCTCTTCCTCATCGTTCGATACTTCTTTGAGCT
Seq A exon
GTACGTGGCTACACCACTGGCTGCCCTCTTGAACATAAAGGAGAAAACTCGGCTGCGGGCACCTCCCAACGCCACCTTGGAACATTTCTACCTGACCAGTGGCAAGCAGCCCAAGCAG
Seq C2 exon
GTGGAAGTAGAGCTTTTGTCCCGGCAGAGCGGGCTCTCTGGCCGCCAGGTAGAGCGTTGGTTCCGTCGCCGCCGCAACCAGGACCGGCCCAGTCTCCTCAAGAAGTTCCGAGAAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418-'10-13,'10-11,11-13=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.001
Domain overlap (PFAM):
C1:
NO
A:
PF0004624=Homeobox=PU(46.6=67.5)
C2:
PF0004624=Homeobox=PD(50.0=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
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTGGTGGGAACGTCTGTG
R:
ACTTCTTGAGGAGACTGGGCC
Band lengths:
256-374
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains