HsaEX0035450 @ hg38
Exon Skipping
Gene
ENSG00000172292 | CERS6
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:HGNC:23826]
Coordinates
chr2:168765592-168775137:+
Coord C1 exon
chr2:168765592-168765748
Coord A exon
chr2:168766322-168766345
Coord C2 exon
chr2:168769510-168775137
Length
24 bp
Sequences
Splice sites
3' ss Seq
TCCTTCTGCTACCCTGGAAGGCT
3' ss Score
3.87
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
GGTGTTAAATACCACATTATTTGAAAGCTGGGAGATCGTTGGACCTTACCCTTCCTGGTGGGTTTTTAACCTACTGCTATTGCTAGTACAAGGGTTGAACTGCTTCTGGTCTTACTTGATTGTGAAAATAGCTTGCAAAGCTGTTTCAAGAGGCAAG
Seq A exon
GCTGGGAAGTGGAACCCTTTACAT
Seq C2 exon
GTGTCCAAGGATGATCGAAGTGATATTGAGTCTAGCTCAGATGAGGAGGACTCAGAACCTCCGGGAAAGAATCCCCACACTGCGACAACCACCAATGGGACCAGTGGTACCAACGGGTATCTCCTGACTGGCTCCTGCTCCATGGATGATTAATTACTCAAAACTACAAGTCCCAAGCAAAGTGAACTATTTGTTCCTGGAAGTATTTAATAAGTTGCAAATGCAGTTCCTTTCATAATATCTCAGCACCAGAAACAAAAATTAAGATTATCAAAGCATTTTGAATAGTGCACTGCCATGTGTCCTGTCTGTGAATGAAGAAGAATTACCATTCTCTCTTTGTAGGCATGCTGTATGTAATTGACACAAGGGAACAGTATTTGCATTTGTACTGTCTTAGAATATTATTTATTTTTTTGTATTTGTAAATCTGTGGACAAAAGAGGGTTTCCTCACTCCTTTTACTCACTGGGCTCATGACAGTGAAGGAGATGCTCCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172292-'56-42,'56-41,57-42
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.550
Domain overlap (PFAM):
C1:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2)
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAAAGCTGTTTCAAGAGGCA
R:
GTCGCAGTGTGGGGATTCTTT
Band lengths:
109-133
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