Special

HsaEX0035443 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:23749]
Coordinates
chr12:50523608-50528485:-
Coord C1 exon
chr12:50528329-50528485
Coord A exon
chr12:50526745-50526847
Coord C2 exon
chr12:50523608-50524477
Length
103 bp
Sequences
Splice sites
3' ss Seq
TGCTTTTCTTTCCTGACTAGGTG
3' ss Score
10.81
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
GATTCTGAACACGACCCTCTTTGAGAGTTGGGAGATAATCGGGCCTTATGCTTCATGGTGGCTCCTCAATGGCCTGCTGCTGACCCTACAGCTTCTGCATGTCATCTGGTCCTACCTAATTGCACGGATTGCTTTGAAAGCCTTGATCAGGGGAAAG
Seq A exon
GTGACCTGTCCAGGAAGGATTAGACCCTGTACTCTCCACTCTTTCCTCACCTCCTTCCTTTTTTCTATGCCTGGCGGGAGCTGGACAGTTTCATCTCTTGCAT
Seq C2 exon
GTATCGAAGGATGATCGCAGTGATGTGGAGAGCAGCTCAGAGGAAGAAGATGTGACCACCTGCACAAAAAGTCCCTGTGACAGTAGCTCCAGCAATGGTGCCAATCGGGTGAATGGTCACATGGGAGGCAGCTACTGGGCTGAAGAGTAAGGTGGTTGCTATAGGGACTTCAGCACACATGGACTTGTAGGGCCACTGGCAACATACTCCTCTTGGCCCTTCCCATATCTACTCTTCTGTGATTGGGAGACTGCAAGGCACTGAGGAGTATCAAAGAAGCAAATATTTTCACTTTGAAAGAAAACTGCCATTTTGTATTTAATAGCCTCCAGGTTCTTTCAGTAATGTTATTTGCTCTGTGTGTTTTTGTGTGTTTGTTGATGTGCGTTTGTGCATATGCGTGAGTTTCATTGCCGGGGTTGGGGCACAATTGTGGACTGGGGCCATGAGGCCTTCCCTGGTCCCCACTGAACCCACCTTAGTTCCACATTTGGCTGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX1-3/3=2-C2
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:
NO
C2:
PF139001=GVQW=PD(20.0=26.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTTATGCTTCATGGTGGCT
R:
CTGCCTCCCATGTGACCATTC
Band lengths:
246-349
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