Special

HsaEX6016470 @ hg19

Exon Skipping

Gene
Description
ceramide synthase 6 [Source:HGNC Symbol;Acc:23826]
Coordinates
chr2:169312759-169417832:+
Coord C1 exon
chr2:169312759-169313128
Coord A exon
chr2:169404106-169404211
Coord C2 exon
chr2:169417702-169417832
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
GCGGCCAGAGGGAGGAGAGAACCGGGGCTCGCCGCGAGCCTTCGAGAGCAGCGGCCGCGGAGGAGGCGGCGGCGGCGGGCGGGAGCAGCGGCGGCGGCGGCACAGGCTCGGGGCCAGCCGGGCGCGCATCCCCGGGCGCCCTGCGCGGTGGAGAGCTTGGCGGGCTGCGGGTGCCGCAGGACAGGAGTGGACAAAGCAAGATGGCAGGGATCTTAGCCTGGTTCTGGAACGAGAGGTTTTGGCTCCCGCACAATGTCACCTGGGCGGACCTGAAGAACACGGAGGAGGCCACCTTCCCGCAGGCTGAGGACCTCTATCTCGCTTTTCCCCTGGCCTTCTGTATCTTCATGGTGCGGCTCATCTTCGAGAG
Seq A exon
ATTTGTAGCCAAACCGTGCGCCATAGCCCTCAACATTCAGGCCAATGGACCACAAATTGCTCCGCCCAATGCCATTCTGGAAAAGGTCTTCACTGCAATTACAAAG
Seq C2 exon
CATCCTGATGAAAAGAGATTGGAAGGCCTCTCCAAGCAACTGGACTGGGATGTTCGAAGCATTCAGCGCTGGTTTCGACAAAGACGCAATCAGGAGAAGCCAAGCACGCTGACGAGGTTCTGTGAGAGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172292-'0-2,'0-0,1-2=AN
Average complexity
A_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),PF078567=Orai-1=PU(13.0=27.8)
C2:
PF0004624=Homeobox=PD(70.2=75.0),PF0379811=TRAM_LAG1_CLN8=PU(2.6=11.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
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