HsaEX0035444 @ 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
chr12:50144769-50144969
Coord C2 exon
chr12:50143952-50144057
Length
201 bp
Sequences
Splice sites
3' ss Seq
ATTTTTTTTTGTATTTTTAGTAG
3' ss Score
6.5
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
CCAGAAGGGGCCGGAAGGGGGTGGCCGCCGGCCGGGCCCCGCCCTGGGGCCGCCTCCCCGCGGGTTCCGTTGGCTGTGGCGGCAGCTGACGCTTGTGGCGGCGGTGGCTTCGGGGTGGGCGTAAGATGGCGACAGCAGCGCAGGGACCCCTAAGCTTGCTGTGGGGCTGGCTGTGGAGCGAGCGCTTCTGGCTACCCGAGAACGTGAGCTGGGCTGATCTGGAGGGGCCGGCCGACGGCTACGGTTACCCCCGCGGCCGGCACATCCTCTCGGTGTTCCCGCTGGCGGCGGGCATCTTCTTCGTGAGGCTGCTCTTCGAGCG
Seq A exon
TAGAGACGGGGTTTCACTATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTTTTTTATTCTTTTTAAAAATTTAAATCCTTGGGACTCTGCTTGATATAACCTCTTCTTTTAGATGATGAAACCAAGACCCAAGAG
Seq C2 exon
ATTTATTGCCAAACCCTGTGCACTCTGTATTGGCATCGAGGACAGTGGTCCTTATCAGGCCCAACCCAATGCCATCCTTGAAAAGGTGTTCATATCTATTACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX2-6/8=C1-8
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
NA
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0004624=Homeobox=PU(34.0=50.0)
Associated events
Other assemblies
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:
CTTCGGGGTGGGCGTAAGAT
R:
TCAAGGATGGCATTGGGTTGG
Band lengths:
296-497
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