HsaEX6016467 @ hg38
Exon Skipping
Gene
ENSG00000172292 | CERS6
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:HGNC:23826]
Coordinates
chr2:168694959-168717978:+
Coord C1 exon
chr2:168694959-168695051
Coord A exon
chr2:168715001-168715129
Coord C2 exon
chr2:168717872-168717978
Length
129 bp
Sequences
Splice sites
3' ss Seq
ATGTTTCTTCTTTCCTCAAGGAC
3' ss Score
8.82
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
Exon sequences
Seq C1 exon
CCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAG
Seq A exon
GACTTTGGCATTATGTTCCTGCACCACCTTGTATCTATTTTCTTGATTACCTTTTCATATGTCAACAATATGGCCCGAGTAGGAACGCTGGTCCTTTGTCTTCATGATTCAGCTGATGCTCTTCTGGAG
Seq C2 exon
GCTGCCAAAATGGCAAATTATGCCAAGTTTCAGAAAATGTGTGATCTCCTGTTTGTTATGTTTGCCGTGGTTTTTATCACCACACGACTGGGTATATTTCCTCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172292-'40-30,'40-28,44-30
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0379811=TRAM_LAG1_CLN8=FE(15.5=100)
A:
PF0379811=TRAM_LAG1_CLN8=FE(21.6=100)
C2:
PF0379811=TRAM_LAG1_CLN8=FE(18.0=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACTCACAACTGACCTTCACT
R:
GGAAATATACCCAGTCGTGTGGT
Band lengths:
194-323
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains