HsaEX0035449 @ hg38
Exon Skipping
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50135941-50138617:-
Coord C1 exon
chr12:50138567-50138617
Coord A exon
chr12:50137728-50137748
Coord C2 exon
chr12:50135941-50136069
Length
21 bp
Sequences
Splice sites
3' ss Seq
GGTCCCTTATGTTTTCTCAGTTT
3' ss Score
6.22
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
TCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAG
Seq A exon
TTTACAGACATTAAAAGAAAG
Seq C2 exon
GACTTCCTGATCATGTTTGTGCATCACTTGGTCACCATTGGGCTTATCTCCTTCTCCTACATCAACAATATGGTTCGAGTGGGAACTCTGATCATGTGTCTACATGATGTCTCAGACTTCTTGCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624-'48-37,'48-36,49-37
Average complexity
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=PU(15.1=82.4)
A:
PF0379811=TRAM_LAG1_CLN8=FE(6.9=100)
C2:
PF0379811=TRAM_LAG1_CLN8=PU(30.8=96.0)
Main Inclusion Isoform:
ENST00000547800fB3835
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:
CACCTTGGTTCTGGGACATCC
R:
AGGAGATAAGCCCAATGGTGAC
Band lengths:
102-123
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development