HsaEX6066479 @ hg38
Exon Skipping
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50142053-50144057:-
Coord C1 exon
chr12:50143952-50144057
Coord A exon
chr12:50143074-50143204
Coord C2 exon
chr12:50142053-50142110
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-'39-30,'39-29,44-30=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=FE(12.6=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
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