HsaEX0035447 @ hg38
Exon Skipping
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50138567-50143204:-
Coord C1 exon
chr12:50143074-50143204
Coord A exon
chr12:50142053-50142110
Coord C2 exon
chr12:50138567-50138617
Length
58 bp
Sequences
Splice sites
3' ss Seq
TTTACTCTTTGCCCACCCAGGTG
3' ss Score
9.31
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
Exon sequences
Seq C1 exon
TATCCTGATAAGAAAAGGCTGGAGGGCCTGTCAAAGCAGCTGGATTGGAATGTCCGAAAAATCCAATGCTGGTTTCGCCATCGGAGGAATCAGGACAAGCCCCCAACGCTTACTAAATTCTGTGAAAGCAT
Seq A exon
GTGGAGATTCACATTTTATTTATGTATATTCTGCTATGGAATTAGATTTCTCTGGTCG
Seq C2 exon
TCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX1-1/10=C1-2
Average complexity
S
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=PD(62.3=75.0),PF0379811=TRAM_LAG1_CLN8=PU(2.6=11.4)
A:
PF0379811=TRAM_LAG1_CLN8=FE(12.6=100)
C2:
PF0379811=TRAM_LAG1_CLN8=PU(15.1=82.4)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCAGCTGGATTGGAATGTCC
R:
GTTATGCCAGCACTGTCGGAT
Band lengths:
136-194
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