Special

HsaEX0035441 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:23749]
Coordinates
chr12:50528329-50529621:-
Coord C1 exon
chr12:50529515-50529621
Coord A exon
chr12:50529216-50529399
Coord C2 exon
chr12:50528329-50528485
Length
184 bp
Sequences
Splice sites
3' ss Seq
TATTCTACTTTCGCCAATAGAAC
3' ss Score
6.38
5' ss Seq
TAAGTAATT
5' ss Score
1.76
Exon sequences
Seq C1 exon
GCAGCCAAACTGGCCAATTATGCCAAGTATCAGCGGCTCTGTGACACCCTTTTTGTGATCTTCAGTGCTGTTTTTATGGTTACACGACTAGGAATCTATCCATTCTG
Seq A exon
AACACAAGAACCCTATTGCCCTGCTTTTACCTTAGCCTGTGCTGACCTTCTGTGGACTCTCATAGGACCTCTGCTGCCTCAGACCGTATTTCTAGCAAGGTCGGATCCAGACTCAGAGTACCCGGCTTGGTTGGCTTCTCAGGACTGACTCATCTCTGAGGAACAGTCCTCATTTTATGCCTAA
Seq C2 exon
GATTCTGAACACGACCCTCTTTGAGAGTTGGGAGATAATCGGGCCTTATGCTTCATGGTGGCTCCTCAATGGCCTGCTGCTGACCCTACAGCTTCTGCATGTCATCTGGTCCTACCTAATTGCACGGATTGCTTTGAAAGCCTTGATCAGGGGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX1-1/3=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0379811=TRAM_LAG1_CLN8=PU(31.7=95.2)
A:
PF0379811=TRAM_LAG1_CLN8=PD(21.2=66.1)
C2:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAGTATCAGCGGCTCTGTG
R:
CTTTCCCCTGATCAAGGCTTTCA
Band lengths:
242-426
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