Special

HsaEX6092599 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 4 [Source:HGNC Symbol;Acc:23747]
Coordinates
chr19:8315960-8320609:+
Coord C1 exon
chr19:8315960-8316133
Coord A exon
chr19:8319383-8319500
Coord C2 exon
chr19:8320491-8320609
Length
118 bp
Sequences
Splice sites
3' ss Seq
TCTGTCTCCTTTGCACCCAGATT
3' ss Score
8.42
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
AATGCTGTCCAGTTTCAACGAGTGGTTTTGGCAGGACAGGTTCTGGTTACCACCCAATGTCACGTGGACAGAGCTAGAAGACCGGGATGGCCGTGTCTACCCCCACCCCCAGGACTTGTTGGCAGCCCTGCCCCTGGCGCTGGTCCTCCTGGCCATGCGCCTTGCCTTTGAGAG
Seq A exon
ATTCATTGGCCTGCCCCTGAGCCGGTGGCTGGGTGTGAGGGATCAGACCAGGAGGCAAGTGAAGCCCAACGCCACGCTGGAGAAACACTTCCTCACGGAAGGGCACAGGCCCAAGGAG
Seq C2 exon
CCCCAGCTGTCTCTCCTGGCCGCCCAGTGTGGCCTCACGCTGCAGCAGACCCAGCGATGGTTCCGGAGACGCCGGAACCAGGATCGACCCCAGCTGACCAAGAAGTTCTGTGAGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090661-'4-5,'4-4,5-5=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.017 A=0.025 C2=0.000
Domain overlap (PFAM):

C1:
PF067288=PIG-U=PU(13.7=36.2)
A:
PF0004624=Homeobox=PU(45.6=65.0),PF067288=PIG-U=FE(25.5=100)
C2:
PF0004624=Homeobox=PD(50.9=72.5),PF067288=PIG-U=FE(25.5=100),PF0379811=TRAM_LAG1_CLN8=PU(8.2=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:
ACAGGTTCTGGTTACCACCCA
R:
GAACTTCTTGGTCAGCTGGGG
Band lengths:
247-365
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains