Special

HsaEX6033429 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:14076]
Coordinates
chr1:150940559-150941607:-
Coord C1 exon
chr1:150941394-150941607
Coord A exon
chr1:150940871-150940988
Coord C2 exon
chr1:150940559-150940677
Length
118 bp
Sequences
Splice sites
3' ss Seq
TACTCATATCCCTTCCCCAGGTA
3' ss Score
9.15
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
CTACTCCCTCTTGATGCCCTCCCCTTTGCCCCTCACTCAGGATGCTCCAGACCTTGTATGATTACTTCTGGTGGGAACGTCTGTGGCTGCCTGTGAACTTGACCTGGGCCGATCTAGAAGACCGAGATGGACGTGTCTACGCCAAAGCCTCAGATCTCTATATCACGCTGCCCCTGGCCTTGCTCTTCCTCATCGTTCGATACTTCTTTGAGCT
Seq A exon
GTACGTGGCTACACCACTGGCTGCCCTCTTGAACATAAAGGAGAAAACTCGGCTGCGGGCACCTCCCAACGCCACCTTGGAACATTTCTACCTGACCAGTGGCAAGCAGCCCAAGCAG
Seq C2 exon
GTGGAAGTAGAGCTTTTGTCCCGGCAGAGCGGGCTCTCTGGCCGCCAGGTAGAGCGTTGGTTCCGTCGCCGCCGCAACCAGGACCGGCCCAGTCTCCTCAAGAAGTTCCGAGAAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418-'7-8,'7-7,8-8=AN
Average complexity
A_S
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=0.002
Domain overlap (PFAM):

C1:
NO
A:
PF0004624=Homeobox=PU(46.6=67.5)
C2:
PF0004624=Homeobox=PD(50.0=72.5),PF0379811=TRAM_LAG1_CLN8=PU(2.6=12.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTGGTGGGAACGTCTGTG
R:
ACTTCTTGAGGAGACTGGGCC
Band lengths:
256-374
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains