Special

HsaEX6033431 @ hg38

Exon Skipping

Gene
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:HGNC:14076]
Coordinates
chr1:150967392-150967877:-
Coord C1 exon
chr1:150967820-150967877
Coord A exon
chr1:150967664-150967714
Coord C2 exon
chr1:150967392-150967484
Length
51 bp
Sequences
Splice sites
3' ss Seq
TTCTCACCATCTCTCTGCAGAAA
3' ss Score
10.27
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
CTGGAGATTCACATTTTACCTGATTGCCTTCATTGCCGGCATGGCCGTCATTGTGGAT
Seq A exon
AAACCCTGGTTCTATGACATGAAGAAAGTTTGGGAGGGATATCCCATACAG
Seq C2 exon
AGCACTATCCCTTCCCAGTATTGGTACTACATGATTGAACTTTCCTTCTACTGGTCCCTGCTCTTCAGCATTGCCTCTGATGTCAAGCGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418-'16-22,'16-19,17-22
Average complexity
S
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:
PF0379811=TRAM_LAG1_CLN8=FE(16.1=100)
A:
PF0379811=TRAM_LAG1_CLN8=FE(13.6=100)
C2:
PF0379811=TRAM_LAG1_CLN8=FE(15.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTGATTGCCTTCATTGCCG
R:
TTCGCTTGACATCAGAGGCAA
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