HsaEX0035443 @ 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
chr12:50132962-50133064
Coord C2 exon
chr12:50129798-50130694
Length
103 bp
Sequences
Splice sites
3' ss Seq
TGCTTTTCTTTCCTGACTAGGTG
3' ss Score
10.81
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
GATTCTGAACACGACCCTCTTTGAGAGTTGGGAGATAATCGGGCCTTATGCTTCATGGTGGCTCCTCAATGGCCTGCTGCTGACCCTACAGCTTCTGCATGTCATCTGGTCCTACCTAATTGCACGGATTGCTTTGAAAGCCTTGATCAGGGGAAAG
Seq A exon
GTGACCTGTCCAGGAAGGATTAGACCCTGTACTCTCCACTCTTTCCTCACCTCCTTCCTTTTTTCTATGCCTGGCGGGAGCTGGACAGTTTCATCTCTTGCAT
Seq C2 exon
GTATCGAAGGATGATCGCAGTGATGTGGAGAGCAGCTCAGAGGAAGAAGATGTGACCACCTGCACAAAAAGTCCCTGTGACAGTAGCTCCAGCAATGGTGCCAATCGGGTGAATGGTCACATGGGAGGCAGCTACTGGGCTGAAGAGTAAGGTGGTTGCTATAGGGACTTCAGCACACATGGACTTGTAGGGCCACTGGCAACATACTCCTCTTGGCCCTTCCCATATCTACTCTTCTGTGATTGGGAGACTGCAAGGCACTGAGGAGTATCAAAGAAGCAAATATTTTCACTTTGAAAGAAAACTGCCATTTTGTATTTAATAGCCTCCAGGTTCTTTCAGTAATGTTATTTGCTCTGTGTGTTTTTGTGTGTTTGTTGATGTGCGTTTGTGCATATGCGTGAGTTTCATTGCCGGGGTTGGGGCACAATTGTGGACTGGGGCCATGAGGCCTTCCCTGGTCCCCACTGAACCCACCTTAGTTCCACATTTGGCTGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX1-9/10=7-10
Average complexity
C1
Mappability confidence:
91%=91=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
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:
NO
C2:
PF0379811=TRAM_LAG1_CLN8=PD(21.8=89.5)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTTATGCTTCATGGTGGCT
R:
CTGCCTCCCATGTGACCATTC
Band lengths:
246-349
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