Special

HsaEX0035448 @ hg38

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50135941-50142110:-
Coord C1 exon
chr12:50142053-50142110
Coord A exon
chr12:50138567-50138617
Coord C2 exon
chr12:50135941-50136069
Length
51 bp
Sequences
Splice sites
3' ss Seq
GATTATCTGTTTTCTCTTAGTCA
3' ss Score
6.87
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
GTGGAGATTCACATTTTATTTATGTATATTCTGCTATGGAATTAGATTTCTCTGGTCG
Seq A exon
TCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAG
Seq C2 exon
GACTTCCTGATCATGTTTGTGCATCACTTGGTCACCATTGGGCTTATCTCCTTCTCCTACATCAACAATATGGTTCGAGTGGGAACTCTGATCATGTGTCTACATGATGTCTCAGACTTCTTGCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX1-2/10=1-4
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0379811=TRAM_LAG1_CLN8=FE(12.6=100)
A:
PF0379811=TRAM_LAG1_CLN8=PU(15.1=82.4)
C2:
PF0379811=TRAM_LAG1_CLN8=PU(30.8=96.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTATGGAATTAGATTTCTCTGGTCG
R:
AGTCTGAGACATCATGTAGACACA
Band lengths:
144-195
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development