HsaEX1008413 @ hg38
Exon Skipping
Gene
ENSG00000172292 | CERS6
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:HGNC:23826]
Coordinates
chr2:168558092-168561322:+
Coord C1 exon
chr2:168558092-168558161
Coord A exon
chr2:168560434-168560537
Coord C2 exon
chr2:168561192-168561322
Length
104 bp
Sequences
Splice sites
3' ss Seq
CAACCTTTTCTTTTTTACAGATG
3' ss Score
11.23
5' ss Seq
CAAGTAATG
5' ss Score
2.09
Exon sequences
Seq C1 exon
ACTGGAAAAAATGGAAACGTCTGATATCATAGTCTGTTGAAGAGGCTTTGGAAAATGGGCGCTCTTGCTT
Seq A exon
ATGAGGAAACTGAGGCTCAGAGAGGTCAATGGAGTGAGGAATTGAACAAGTGCCTATCATTTCAGGGCCATCTCTTGCCGCTTCACCAAGTGTACTTTTTTCAA
Seq C2 exon
CATCCTGATGAAAAGAGATTGGAAGGCCTCTCCAAGCAACTGGACTGGGATGTTCGAAGCATTCAGCGCTGGTTTCGACAAAGACGCAATCAGGAGAAGCCAAGCACGCTGACGAGGTTCTGTGAGAGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172292-'17-7,'17-6,18-7
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0004624=Homeobox=PD(70.2=75.0),PF0379811=TRAM_LAG1_CLN8=PU(2.6=11.4)
Main Inclusion Isoform:
ENST00000392687fB12188
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAATGGAAACGTCTGATATCATAGT
R:
ATGCTCTCACAGAACCTCGTC
Band lengths:
194-298
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains