Special

HsaEX0035453 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:23826]
Coordinates
chr2:169487495-169571639:+
Coord C1 exon
chr2:169487495-169487552
Coord A exon
chr2:169547544-169547594
Coord C2 exon
chr2:169571511-169571639
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:
PF078567=Orai-1=FE(24.7=100),PF0043216=Prenyltrans=PU(31.6=30.0)
A:
PF0379811=TRAM_LAG1_CLN8=FE(8.2=100)
C2:
PF0379811=TRAM_LAG1_CLN8=FE(21.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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