HsaEX0035441 @ hg38
Exon Skipping
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50134546-50135838:-
Coord C1 exon
chr12:50135732-50135838
Coord A exon
chr12:50135433-50135616
Coord C2 exon
chr12:50134546-50134702
Length
184 bp
Sequences
Splice sites
3' ss Seq
TATTCTACTTTCGCCAATAGAAC
3' ss Score
6.38
5' ss Seq
TAAGTAATT
5' ss Score
1.76
Exon sequences
Seq C1 exon
GCAGCCAAACTGGCCAATTATGCCAAGTATCAGCGGCTCTGTGACACCCTTTTTGTGATCTTCAGTGCTGTTTTTATGGTTACACGACTAGGAATCTATCCATTCTG
Seq A exon
AACACAAGAACCCTATTGCCCTGCTTTTACCTTAGCCTGTGCTGACCTTCTGTGGACTCTCATAGGACCTCTGCTGCCTCAGACCGTATTTCTAGCAAGGTCGGATCCAGACTCAGAGTACCCGGCTTGGTTGGCTTCTCAGGACTGACTCATCTCTGAGGAACAGTCCTCATTTTATGCCTAA
Seq C2 exon
GATTCTGAACACGACCCTCTTTGAGAGTTGGGAGATAATCGGGCCTTATGCTTCATGGTGGCTCCTCAATGGCCTGCTGCTGACCCTACAGCTTCTGCATGTCATCTGGTCCTACCTAATTGCACGGATTGCTTTGAAAGCCTTGATCAGGGGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX1-6/10=5-7
Average complexity
S*
Mappability confidence:
86%=86=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:
PF0379811=TRAM_LAG1_CLN8=PD(22.5=94.4)
A:
PF0379811=TRAM_LAG1_CLN8=PD(21.2=66.1)
C2:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAGTATCAGCGGCTCTGTG
R:
CTTTCCCCTGATCAAGGCTTTCA
Band lengths:
242-426
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