Special

HsaEX0035448 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:23749]
Coordinates
chr12:50529724-50535893:-
Coord C1 exon
chr12:50535836-50535893
Coord A exon
chr12:50532350-50532400
Coord C2 exon
chr12:50529724-50529852
Length
51 bp
Sequences
Splice sites
3' ss Seq
GATTATCTGTTTTCTCTTAGTCA
3' ss Score
6.87
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
GTGGAGATTCACATTTTATTTATGTATATTCTGCTATGGAATTAGATTTCTCTGGTCG
Seq A exon
TCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAG
Seq C2 exon
GACTTCCTGATCATGTTTGTGCATCACTTGGTCACCATTGGGCTTATCTCCTTCTCCTACATCAACAATATGGTTCGAGTGGGAACTCTGATCATGTGTCTACATGATGTCTCAGACTTCTTGCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX3-2/3=1-C2
Average complexity
C3
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(9.6=92.9)
A:
PF0379811=TRAM_LAG1_CLN8=PU(14.9=77.8)
C2:
PF0379811=TRAM_LAG1_CLN8=PU(30.8=96.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTATGGAATTAGATTTCTCTGGTCG
R:
AGTCTGAGACATCATGTAGACACA
Band lengths:
144-195
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