HsaEX6016465 @ hg38
Exon Skipping
Gene
ENSG00000172292 | CERS6
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:HGNC:23826]
Coordinates
chr2:168717872-168775137:+
Coord C1 exon
chr2:168717872-168717978
Coord A exon
chr2:168765592-168765748
Coord C2 exon
chr2:168769510-168775137
Length
157 bp
Sequences
Splice sites
3' ss Seq
CACCTCCTTCTTTTCCTTAGGGT
3' ss Score
10.95
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GCTGCCAAAATGGCAAATTATGCCAAGTTTCAGAAAATGTGTGATCTCCTGTTTGTTATGTTTGCCGTGGTTTTTATCACCACACGACTGGGTATATTTCCTCTCTG
Seq A exon
GGTGTTAAATACCACATTATTTGAAAGCTGGGAGATCGTTGGACCTTACCCTTCCTGGTGGGTTTTTAACCTACTGCTATTGCTAGTACAAGGGTTGAACTGCTTCTGGTCTTACTTGATTGTGAAAATAGCTTGCAAAGCTGTTTCAAGAGGCAAG
Seq C2 exon
GTGTCCAAGGATGATCGAAGTGATATTGAGTCTAGCTCAGATGAGGAGGACTCAGAACCTCCGGGAAAGAATCCCCACACTGCGACAACCACCAATGGGACCAGTGGTACCAACGGGTATCTCCTGACTGGCTCCTGCTCCATGGATGATTAATTACTCAAAACTACAAGTCCCAAGCAAAGTGAACTATTTGTTCCTGGAAGTATTTAATAAGTTGCAAATGCAGTTCCTTTCATAATATCTCAGCACCAGAAACAAAAATTAAGATTATCAAAGCATTTTGAATAGTGCACTGCCATGTGTCCTGTCTGTGAATGAAGAAGAATTACCATTCTCTCTTTGTAGGCATGCTGTATGTAATTGACACAAGGGAACAGTATTTGCATTTGTACTGTCTTAGAATATTATTTATTTTTTTGTATTTGTAAATCTGTGGACAAAAGAGGGTTTCCTCACTCCTTTTACTCACTGGGCTCATGACAGTGAAGGAGATGCTCCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172292_MULTIEX2-1/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.550
Domain overlap (PFAM):
C1:
PF0379811=TRAM_LAG1_CLN8=FE(18.0=100)
A:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2)
C2:
NO

Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGTTTGTTATGTTTGCCGTGG
R:
AGTTCACTTTGCTTGGGACTTGT
Band lengths:
248-405
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains