HsaEX6038497 @ hg38
Exon Skipping
Gene
ENSG00000134755 | DSC2
Description
desmocollin 2 [Source:HGNC Symbol;Acc:HGNC:3036]
Coordinates
chr18:31074683-31080352:-
Coord C1 exon
chr18:31080096-31080352
Coord A exon
chr18:31079847-31079989
Coord C2 exon
chr18:31074683-31074907
Length
143 bp
Sequences
Splice sites
3' ss Seq
TAATTCATCATTACCAACAGGTA
3' ss Score
6.83
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
CCTTTGAATTATGAAGAAAAGCAACAGATGATCTTGCAAATTGGTGTAGTTAATGAAGCTCCATTTTCCAGAGAGGCTAGTCCAAGATCAGCCATGAGCACAGCAACAGTTACTGTTAATGTAGAAGATCAGGATGAGGGCCCTGAGTGTAACCCTCCAATACAGACTGTTCGCATGAAAGAAAATGCAGAAGTGGGAACAACAAGCAATGGATATAAAGCATATGACCCAGAAACAAGAAGTAGCAGTGGCATAAG
Seq A exon
GTATAAGAAATTAACTGATCCAACAGGGTGGGTCACCATTGATGAAAATACAGGATCAATCAAAGTTTTCAGAAGCCTGGATAGAGAGGCAGAGACCATCAAAAATGGCATATATAATATTACAGTCCTTGCATCAGACCAAG
Seq C2 exon
GAGGGAGAACATGTACGGGGACACTGGGCATTATACTTCAAGACGTGAATGATAACAGCCCATTCATACCTAAAAAGACAGTGATCATCTGCAAACCCACCATGTCATCTGCGGAGATTGTTGCGGTTGATCCTGATGAGCCTATCCATGGCCCACCCTTTGACTTTAGTCTGGAGAGTTCTACTTCAGAAGTACAGAGAATGTGGAGACTGAAAGCAATTAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134755-'15-17,'15-15,16-17
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.674 A=0.061 C2=0.039
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=PD(39.4=47.7),PF0002812=Cadherin=PU(33.3=36.0)
A:
PF0002812=Cadherin=FE(51.6=100)
C2:
PF0002812=Cadherin=PD(14.0=17.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGATCAGGATGAGGGCCCT
R:
CGCAGATGACATGGTGGGTTT
Band lengths:
247-390
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains