HsaEX0035439 @ hg38
Exon Skipping
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50129798-50134702:-
Coord C1 exon
chr12:50134546-50134702
Coord A exon
chr12:50133933-50134068
Coord C2 exon
chr12:50129798-50130694
Length
136 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTCAGATG
3' ss Score
13.03
5' ss Seq
CAGGCCTGG
5' ss Score
-2.69
Exon sequences
Seq C1 exon
GATTCTGAACACGACCCTCTTTGAGAGTTGGGAGATAATCGGGCCTTATGCTTCATGGTGGCTCCTCAATGGCCTGCTGCTGACCCTACAGCTTCTGCATGTCATCTGGTCCTACCTAATTGCACGGATTGCTTTGAAAGCCTTGATCAGGGGAAAG
Seq A exon
ATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGTCACGATCTTGGCTCACCACAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCATGCCACCAG
Seq C2 exon
GTATCGAAGGATGATCGCAGTGATGTGGAGAGCAGCTCAGAGGAAGAAGATGTGACCACCTGCACAAAAAGTCCCTGTGACAGTAGCTCCAGCAATGGTGCCAATCGGGTGAATGGTCACATGGGAGGCAGCTACTGGGCTGAAGAGTAAGGTGGTTGCTATAGGGACTTCAGCACACATGGACTTGTAGGGCCACTGGCAACATACTCCTCTTGGCCCTTCCCATATCTACTCTTCTGTGATTGGGAGACTGCAAGGCACTGAGGAGTATCAAAGAAGCAAATATTTTCACTTTGAAAGAAAACTGCCATTTTGTATTTAATAGCCTCCAGGTTCTTTCAGTAATGTTATTTGCTCTGTGTGTTTTTGTGTGTTTGTTGATGTGCGTTTGTGCATATGCGTGAGTTTCATTGCCGGGGTTGGGGCACAATTGTGGACTGGGGCCATGAGGCCTTCCCTGGTCCCCACTGAACCCACCTTAGTTCCACATTTGGCTGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX1-8/10=7-10
Average complexity
C1
Mappability confidence:
90%=90=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.321
Domain overlap (PFAM):
C1:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2)
A:
PF139001=GVQW=PU(95.2=87.0)
C2:
PF0379811=TRAM_LAG1_CLN8=PD(21.8=89.5)
Main Inclusion Isoform:
ENST00000317551fB3832
Other Inclusion Isoforms:
NA
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:
GCCTTATGCTTCATGGTGGCT
R:
CTGCCTCCCATGTGACCATTC
Band lengths:
246-382
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