HsaEX6016470 @ hg38
Exon Skipping
Gene
ENSG00000172292 | CERS6
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:HGNC:23826]
Coordinates
chr2:168455862-168561322:+
Coord C1 exon
chr2:168455862-168456618
Coord A exon
chr2:168547596-168547701
Coord C2 exon
chr2:168561192-168561322
Length
106 bp
Sequences
Splice sites
3' ss Seq
TTTCTTTTTGTAATTTTTAGATT
3' ss Score
10.87
5' ss Seq
AAGGTATGA
5' ss Score
9.11
Exon sequences
Seq C1 exon
ACTGCGCCCTGCCCTGCGGGTGTGGGCGAGTTGGCCGCGTGTGTGCCTCGCTGTTTGACGCGAAGACGAGCCAATCAGGGCGGGCGGCCCGAGCTGCCATGTGACGGGCAAGGCGGCCCCTTTCCCCAGCGCGGCCAGAGGGAGGAGAGAACCGGGGCTCGCCGCGAGCCTTCGAGAGCAGCGGCCGCGGAGGAGGCGGCGGCGGCGGGCGGGAGCAGCGGCGGCGGCGGCACAGGCTCGGGGCCAGCCGGGCGCGCATCCCCGGGCGCCCTGCGCGGTGGAGAGCTTGGCGGGCTGCGGGTGCCGCAGGACAGGAGTGGACAAAGCAAGATGGCAGGGATCTTAGCCTGGTTCTGGAACGAGAGGTTTTGGCTCCCGCACAATGTCACCTGGGCGGACCTGAAGAACACGGAGGAGGCCACCTTCCCGCAGGCTGAGGACCTCTATCTCGCTTTTCCCCTGGCCTTCTGTATCTTCATGGTGCGGCTCATCTTCGAGAG
Seq A exon
ATTTGTAGCCAAACCGTGCGCCATAGCCCTCAACATTCAGGCCAATGGACCACAAATTGCTCCGCCCAATGCCATTCTGGAAAAGGTCTTCACTGCAATTACAAAG
Seq C2 exon
CATCCTGATGAAAAGAGATTGGAAGGCCTCTCCAAGCAACTGGACTGGGATGTTCGAAGCATTCAGCGCTGGTTTCGACAAAGACGCAATCAGGAGAAGCCAAGCACGCTGACGAGGTTCTGTGAGAGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172292-'0-7,'0-3,15-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0004624=Homeobox=PU(25.5=33.3)
C2:
PF0004624=Homeobox=PD(70.2=75.0),PF0379811=TRAM_LAG1_CLN8=PU(2.6=11.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGACAGGAGTGGACAAAGC
R:
GCTTCGAACATCCCAGTCCAG
Band lengths:
254-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains