Special

HsaEX0035450 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:23826]
Coordinates
chr2:169622102-169631644:+
Coord C1 exon
chr2:169622102-169622258
Coord A exon
chr2:169622832-169622855
Coord C2 exon
chr2:169626020-169631644
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-'12-12,'12-11,13-12
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=0.560
Domain overlap (PFAM):

C1:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2),PF050388=Cytochrom_B558a=PU(38.5=56.6)
A:
PF050388=Cytochrom_B558a=FE(9.0=100)
C2:
PF050388=Cytochrom_B558a=PD(48.7=74.5)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
HIGH PSI
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