Special

HsaEX0035439 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:23749]
Coordinates
chr12:50523575-50528485:-
Coord C1 exon
chr12:50528329-50528485
Coord A exon
chr12:50527778-50527851
Coord C2 exon
chr12:50523575-50524477
Length
74 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTCAGATG
3' ss Score
13.03
5' ss Seq
TGGGTTCAA
5' ss Score
-10.77
Exon sequences
Seq C1 exon
GATTCTGAACACGACCCTCTTTGAGAGTTGGGAGATAATCGGGCCTTATGCTTCATGGTGGCTCCTCAATGGCCTGCTGCTGACCCTACAGCTTCTGCATGTCATCTGGTCCTACCTAATTGCACGGATTGCTTTGAAAGCCTTGATCAGGGGAAAG
Seq A exon
ATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGTCACGATCTTGGCTCACCACAACCTCCACCTCCTGG
Seq C2 exon
GTATCGAAGGATGATCGCAGTGATGTGGAGAGCAGCTCAGAGGAAGAAGATGTGACCACCTGCACAAAAAGTCCCTGTGACAGTAGCTCCAGCAATGGTGCCAATCGGGTGAATGGTCACATGGGAGGCAGCTACTGGGCTGAAGAGTAAGGTGGTTGCTATAGGGACTTCAGCACACATGGACTTGTAGGGCCACTGGCAACATACTCCTCTTGGCCCTTCCCATATCTACTCTTCTGTGATTGGGAGACTGCAAGGCACTGAGGAGTATCAAAGAAGCAAATATTTTCACTTTGAAAGAAAACTGCCATTTTGTATTTAATAGCCTCCAGGTTCTTTCAGTAATGTTATTTGCTCTGTGTGTTTTTGTGTGTTTGTTGATGTGCGTTTGTGCATATGCGTGAGTTTCATTGCCGGGGTTGGGGCACAATTGTGGACTGGGGCCATGAGGCCTTCCCTGGTCCCCACTGAACCCACCTTAGTTCCACATTTGGCTGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624-'15-19,'15-16,16-19
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.367
Domain overlap (PFAM):

C1:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2)
A:
PF139001=GVQW=PU(76.0=76.0)
C2:
PF0379811=TRAM_LAG1_CLN8=PD(21.8=89.5)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTTGGGAGATAATCGGGCCT
R:
TCTTCCTCTGAGCTGCTCTCC
Band lengths:
179-253
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