Special

HsaEX6066480 @ hg38

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50135732-50137820:-
Coord C1 exon
chr12:50137728-50137820
Coord A exon
chr12:50135941-50136069
Coord C2 exon
chr12:50135732-50135838
Length
129 bp
Sequences
Splice sites
3' ss Seq
CTATTTCCATTCCTTCCTAGGAC
3' ss Score
10.09
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
Exon sequences
Seq C1 exon
CCTCTTTCAAGTGGGCTTTATCACTATTATATCATGGAATTGGCCTTCTATTGGTCCCTTATGTTTTCTCAGTTTACAGACATTAAAAGAAAG
Seq A exon
GACTTCCTGATCATGTTTGTGCATCACTTGGTCACCATTGGGCTTATCTCCTTCTCCTACATCAACAATATGGTTCGAGTGGGAACTCTGATCATGTGTCTACATGATGTCTCAGACTTCTTGCTGGAG
Seq C2 exon
GCAGCCAAACTGGCCAATTATGCCAAGTATCAGCGGCTCTGTGACACCCTTTTTGTGATCTTCAGTGCTGTTTTTATGGTTACACGACTAGGAATCTATCCATTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624-'49-40,'49-37,52-40
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(15.5=100)
A:
PF0379811=TRAM_LAG1_CLN8=FE(21.6=100)
C2:
PF0379811=TRAM_LAG1_CLN8=PD(22.5=94.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCTTTCAAGTGGGCTTTATCACT
R:
TGGATAGATTCCTAGTCGTGTAACCA
Band lengths:
195-324
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains