HsaEX0035446 @ hg38
Exon Skipping
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50143074-50167422:-
Coord C1 exon
chr12:50167101-50167422
Coord A exon
chr12:50143952-50144057
Coord C2 exon
chr12:50143074-50143204
Length
106 bp
Sequences
Splice sites
3' ss Seq
GTGGGTTTTCTCCATTACAGATT
3' ss Score
8.88
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
CCAGAAGGGGCCGGAAGGGGGTGGCCGCCGGCCGGGCCCCGCCCTGGGGCCGCCTCCCCGCGGGTTCCGTTGGCTGTGGCGGCAGCTGACGCTTGTGGCGGCGGTGGCTTCGGGGTGGGCGTAAGATGGCGACAGCAGCGCAGGGACCCCTAAGCTTGCTGTGGGGCTGGCTGTGGAGCGAGCGCTTCTGGCTACCCGAGAACGTGAGCTGGGCTGATCTGGAGGGGCCGGCCGACGGCTACGGTTACCCCCGCGGCCGGCACATCCTCTCGGTGTTCCCGCTGGCGGCGGGCATCTTCTTCGTGAGGCTGCTCTTCGAGCG
Seq A exon
ATTTATTGCCAAACCCTGTGCACTCTGTATTGGCATCGAGGACAGTGGTCCTTATCAGGCCCAACCCAATGCCATCCTTGAAAAGGTGTTCATATCTATTACCAAG
Seq C2 exon
TATCCTGATAAGAAAAGGCTGGAGGGCCTGTCAAAGCAGCTGGATTGGAATGTCCGAAAAATCCAATGCTGGTTTCGCCATCGGAGGAATCAGGACAAGCCCCCAACGCTTACTAAATTCTGTGAAAGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX2-8/8=C1-C2
Average complexity
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:
NO
A:
PF0004624=Homeobox=PU(34.0=50.0)
C2:
PF0004624=Homeobox=PD(62.3=75.0),PF0379811=TRAM_LAG1_CLN8=PU(2.6=11.4)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTGGCTACCCGAGAACGT
R:
GTTGGGGGCTTGTCCTGATTC
Band lengths:
245-351
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