HsaEX1008407 @ hg38
Exon Skipping
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50143952-50167422:-
Coord C1 exon
chr12:50167101-50167422
Coord A exon
chr12:50154228-50154320
Coord C2 exon
chr12:50143952-50144057
Length
93 bp
Sequences
Splice sites
3' ss Seq
GAGTCTTGCTCTGTTCCCAGGCT
3' ss Score
6.83
5' ss Seq
CAGGCATGT
5' ss Score
2.05
Exon sequences
Seq C1 exon
CCAGAAGGGGCCGGAAGGGGGTGGCCGCCGGCCGGGCCCCGCCCTGGGGCCGCCTCCCCGCGGGTTCCGTTGGCTGTGGCGGCAGCTGACGCTTGTGGCGGCGGTGGCTTCGGGGTGGGCGTAAGATGGCGACAGCAGCGCAGGGACCCCTAAGCTTGCTGTGGGGCTGGCTGTGGAGCGAGCGCTTCTGGCTACCCGAGAACGTGAGCTGGGCTGATCTGGAGGGGCCGGCCGACGGCTACGGTTACCCCCGCGGCCGGCACATCCTCTCGGTGTTCCCGCTGGCGGCGGGCATCTTCTTCGTGAGGCTGCTCTTCGAGCG
Seq A exon
GCTGGAGTGTAGTGGCGCGATCTCACTGCAACCTTCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAG
Seq C2 exon
ATTTATTGCCAAACCCTGTGCACTCTGTATTGGCATCGAGGACAGTGGTCCTTATCAGGCCCAACCCAATGCCATCCTTGAAAAGGTGTTCATATCTATTACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX2-2/8=C1-8
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF139001=GVQW=WD(100=93.1)
C2:
PF0004624=Homeobox=PU(34.0=50.0)
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTGGCTACCCGAGAACGT
R:
GCCAATACAGAGTGCACAGGG
Band lengths:
172-265
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains