Special

HsaEX1008410 @ hg38

Exon Skipping

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50143952-50167422:-
Coord C1 exon
chr12:50167101-50167422
Coord A exon
chr12:50147326-50147403
Coord C2 exon
chr12:50143952-50144057
Length
78 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTGGAGATG
3' ss Score
2.32
5' ss Seq
TGGGTAAAA
5' ss Score
3.28
Exon sequences
Seq C1 exon
CCAGAAGGGGCCGGAAGGGGGTGGCCGCCGGCCGGGCCCCGCCCTGGGGCCGCCTCCCCGCGGGTTCCGTTGGCTGTGGCGGCAGCTGACGCTTGTGGCGGCGGTGGCTTCGGGGTGGGCGTAAGATGGCGACAGCAGCGCAGGGACCCCTAAGCTTGCTGTGGGGCTGGCTGTGGAGCGAGCGCTTCTGGCTACCCGAGAACGTGAGCTGGGCTGATCTGGAGGGGCCGGCCGACGGCTACGGTTACCCCCGCGGCCGGCACATCCTCTCGGTGTTCCCGCTGGCGGCGGGCATCTTCTTCGTGAGGCTGCTCTTCGAGCG
Seq A exon
ATGGAGTCTCGCTCTGTTACCCAGGCCAGAGAGAGTGCAATGGCGTGATCTCAGCTCATTGTAATTTCCGCCTCCTGG
Seq C2 exon
ATTTATTGCCAAACCCTGTGCACTCTGTATTGGCATCGAGGACAGTGGTCCTTATCAGGCCCAACCCAATGCCATCCTTGAAAAGGTGTTCATATCTATTACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX2-5/8=C1-8
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

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

C1:
NO
A:
NA
C2:
PF0004624=Homeobox=PU(34.0=50.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTGGCTACCCGAGAACGT
R:
GCCAATACAGAGTGCACAGGG
Band lengths:
172-250
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains