HsaEX0035442 @ hg38
Exon Skipping
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50129798-50135838:-
Coord C1 exon
chr12:50135732-50135838
Coord A exon
chr12:50134546-50134702
Coord C2 exon
chr12:50129798-50130694
Length
157 bp
Sequences
Splice sites
3' ss Seq
TATTGGCCTCCCTCTTCTAGGAT
3' ss Score
11.63
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GCAGCCAAACTGGCCAATTATGCCAAGTATCAGCGGCTCTGTGACACCCTTTTTGTGATCTTCAGTGCTGTTTTTATGGTTACACGACTAGGAATCTATCCATTCTG
Seq A exon
GATTCTGAACACGACCCTCTTTGAGAGTTGGGAGATAATCGGGCCTTATGCTTCATGGTGGCTCCTCAATGGCCTGCTGCTGACCCTACAGCTTCTGCATGTCATCTGGTCCTACCTAATTGCACGGATTGCTTTGAAAGCCTTGATCAGGGGAAAG
Seq C2 exon
GTATCGAAGGATGATCGCAGTGATGTGGAGAGCAGCTCAGAGGAAGAAGATGTGACCACCTGCACAAAAAGTCCCTGTGACAGTAGCTCCAGCAATGGTGCCAATCGGGTGAATGGTCACATGGGAGGCAGCTACTGGGCTGAAGAGTAAGGTGGTTGCTATAGGGACTTCAGCACACATGGACTTGTAGGGCCACTGGCAACATACTCCTCTTGGCCCTTCCCATATCTACTCTTCTGTGATTGGGAGACTGCAAGGCACTGAGGAGTATCAAAGAAGCAAATATTTTCACTTTGAAAGAAAACTGCCATTTTGTATTTAATAGCCTCCAGGTTCTTTCAGTAATGTTATTTGCTCTGTGTGTTTTTGTGTGTTTGTTGATGTGCGTTTGTGCATATGCGTGAGTTTCATTGCCGGGGTTGGGGCACAATTGTGGACTGGGGCCATGAGGCCTTCCCTGGTCCCCACTGAACCCACCTTAGTTCCACATTTGGCTGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624_MULTIEX1-7/10=5-10
Average complexity
C1*
Mappability confidence:
88%=88=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.321
Domain overlap (PFAM):
C1:
PF0379811=TRAM_LAG1_CLN8=PD(22.5=94.4)
A:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2)
C2:
PF0379811=TRAM_LAG1_CLN8=PD(21.8=89.5)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCTCTGTGACACCCTTTTT
R:
GTCCATGTGTGCTGAAGTCCC
Band lengths:
258-415
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development