Special

HsaEX6033430 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:14076]
Coordinates
chr1:150940140-150940677:-
Coord C1 exon
chr1:150940559-150940677
Coord A exon
chr1:150940296-150940353
Coord C2 exon
chr1:150940140-150940190
Length
58 bp
Sequences
Splice sites
3' ss Seq
ATTTCTGCTTCCTCTGCCAGCTG
3' ss Score
9.29
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
GTGGAAGTAGAGCTTTTGTCCCGGCAGAGCGGGCTCTCTGGCCGCCAGGTAGAGCGTTGGTTCCGTCGCCGCCGCAACCAGGACCGGCCCAGTCTCCTCAAGAAGTTCCGAGAAGCCAG
Seq A exon
CTGGAGATTCACATTTTACCTGATTGCCTTCATTGCCGGCATGGCCGTCATTGTGGAT
Seq C2 exon
AAACCCTGGTTCTATGACATGAAGAAAGTTTGGGAGGGATATCCCATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418-'10-11,'10-10,11-11=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=0.002 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0004624=Homeobox=PD(50.0=72.5),PF0379811=TRAM_LAG1_CLN8=PU(2.6=12.5)
A:
PF0379811=TRAM_LAG1_CLN8=PU(2.9=83.3)
C2:
PF0379811=TRAM_LAG1_CLN8=FE(13.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
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:
GAGCTTTTGTCCCGGCAGAG
R:
CCCTCCCAAACTTTCTTCATGTCA
Band lengths:
148-206
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains