Special

HsaEX6066479 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:23749]
Coordinates
chr12:50535836-50537840:-
Coord C1 exon
chr12:50537735-50537840
Coord A exon
chr12:50536857-50536987
Coord C2 exon
chr12:50535836-50535893
Length
131 bp
Sequences
Splice sites
3' ss Seq
CTCTGGTTATACATTCACAGTAT
3' ss Score
4.03
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
ATTTATTGCCAAACCCTGTGCACTCTGTATTGGCATCGAGGACAGTGGTCCTTATCAGGCCCAACCCAATGCCATCCTTGAAAAGGTGTTCATATCTATTACCAAG
Seq A exon
TATCCTGATAAGAAAAGGCTGGAGGGCCTGTCAAAGCAGCTGGATTGGAATGTCCGAAAAATCCAATGCTGGTTTCGCCATCGGAGGAATCAGGACAAGCCCCCAACGCTTACTAAATTCTGTGAAAGCAT
Seq C2 exon
GTGGAGATTCACATTTTATTTATGTATATTCTGCTATGGAATTAGATTTCTCTGGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624-'7-9,'7-8,8-9=AN
Average complexity
A_C1
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=PU(34.0=50.0)
A:
PF0004624=Homeobox=PD(62.3=75.0),PF0379811=TRAM_LAG1_CLN8=PU(2.6=11.4)
C2:
PF0379811=TRAM_LAG1_CLN8=PU(9.6=92.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTATTGCCAAACCCTGTGCACT
R:
CGACCAGAGAAATCTAATTCCATAGC
Band lengths:
162-293
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains