HsaEX0035453 @ hg38
Exon Skipping
Gene
ENSG00000172292 | CERS6
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:HGNC:23826]
Coordinates
chr2:168630985-168715129:+
Coord C1 exon
chr2:168630985-168631042
Coord A exon
chr2:168691034-168691084
Coord C2 exon
chr2:168715001-168715129
Length
51 bp
Sequences
Splice sites
3' ss Seq
TTTTTTGTCATTTTTTTCAGACC
3' ss Score
10.72
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
GTGGAGATTTTCATTTTACCTTTATGTATTTACCTACGGAGTCAGATTCCTGAAAAAG
Seq A exon
ACCCCCTGGTTGTGGAATACGAGGCATTGCTGGTACAACTACCCCTATCAG
Seq C2 exon
GACTTTGGCATTATGTTCCTGCACCACCTTGTATCTATTTTCTTGATTACCTTTTCATATGTCAACAATATGGCCCGAGTAGGAACGCTGGTCCTTTGTCTTCATGATTCAGCTGATGCTCTTCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172292_MULTIEX1-2/3=1-C2
Average complexity
C3
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(9.8=100)
A:
PF0379811=TRAM_LAG1_CLN8=FE(8.2=100)
C2:
PF0379811=TRAM_LAG1_CLN8=FE(21.6=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:
ACCTACGGAGTCAGATTCCTGA
R:
ATGAAGACAAAGGACCAGCGT
Band lengths:
132-183
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development