Special

HsaEX0035447 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:23749]
Coordinates
chr12:50532350-50536987:-
Coord C1 exon
chr12:50536857-50536987
Coord A exon
chr12:50535836-50535893
Coord C2 exon
chr12:50532350-50532400
Length
58 bp
Sequences
Splice sites
3' ss Seq
TTTACTCTTTGCCCACCCAGGTG
3' ss Score
9.31
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
Exon sequences
Seq C1 exon
TATCCTGATAAGAAAAGGCTGGAGGGCCTGTCAAAGCAGCTGGATTGGAATGTCCGAAAAATCCAATGCTGGTTTCGCCATCGGAGGAATCAGGACAAGCCCCCAACGCTTACTAAATTCTGTGAAAGCAT
Seq A exon
GTGGAGATTCACATTTTATTTATGTATATTCTGCTATGGAATTAGATTTCTCTGGTCG
Seq C2 exon
TCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX3-1/3=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0004624=Homeobox=PD(62.3=75.0),PF0379811=TRAM_LAG1_CLN8=PU(2.6=11.4)
A:
PF0379811=TRAM_LAG1_CLN8=FE(9.8=100)
C2:
PF0379811=TRAM_LAG1_CLN8=PU(14.9=77.8)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
AGCAGCTGGATTGGAATGTCC
R:
GTTATGCCAGCACTGTCGGAT
Band lengths:
136-194
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