Special

RnoEX6010576 @ rn6

Exon Skipping

Gene
Description
ceramide synthase 2 [Source:RGD Symbol;Acc:1310059]
Coordinates
chr2:196493923-196494585:+
Coord C1 exon
chr2:196493923-196494015
Coord A exon
chr2:196494197-196494325
Coord C2 exon
chr2:196494479-196494585
Length
129 bp
Sequences
Splice sites
3' ss Seq
AGCCTCTATCTTTTCTGCAGGAT
3' ss Score
9.17
5' ss Seq
GAGGTTAGG
5' ss Score
4.36
Exon sequences
Seq C1 exon
AGTATCATCCCTTCTCAGTATTGGTACTACATGATTGAGCTTGCTTTCTACTGGTCCCTGCTCTTCAGCATTGCCTCCGATGTCAAGCGAAAG
Seq A exon
GATTTTAAGGAACAGATCATCCACCATGTGGCCACCATCATTCTCCTCTGCTTCTCCTGGTTTGCCAATTATGTCCGAGCAGGGACCCTCATCATGGCTCTGCATGACTCTTCCGACTACCTGCTGGAG
Seq C2 exon
TCTGCCAAGATGTTTAACTACGCAGGATGGAAAAACACCTGCAACAACCTCTTCATTGTCTTCGCCGTCGTTTTCATCATCACTCGACTGGTTATCATGCCCTTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSRNOG00000021138-'18-15,'18-13,19-15=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0379811=TRAM_LAG1_CLN8=FE(15.5=100)
A:
PF0379811=TRAM_LAG1_CLN8=FE(21.6=100)
C2:
PF0379811=TRAM_LAG1_CLN8=FE(18.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTATCATCCCTTCTCAGTATTGGT
R:
GGGCATGATAACCAGTCGAGTG
Band lengths:
195-324
Functional annotations
There are 1 annotated functions for this event
PMID: 33568634
Differential AS-based survival analysis shows that this AS event of CERS2 is a poor prognostic factor for Luminal B patients. As Exon 8 corresponds to catalytic Lag1p domain, overexpression of AS transcript of CERS2 in Luminal B cancer cells leads to a reduction in the level of very-long-chain ceramides compared to overexpression of protein-coding (PC) transcript of CERS2. The authors further demonstrate that this AS event-mediated decrease of very-long- chain ceramides leads to enhanced cancer cell proliferation and migration. Therefore, these results show subtype- specific AS of sphingolipid genes as a regulatory mechanism that deregulates sphingolipids like ceramides in breast tumors, and can be explored further as a suitable therapeutic target.


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]