Special

HsaEX6038497 @ hg19

Exon Skipping

Gene
Description
desmocollin 2 [Source:HGNC Symbol;Acc:3036]
Coordinates
chr18:28654649-28660318:-
Coord C1 exon
chr18:28660062-28660318
Coord A exon
chr18:28659813-28659955
Coord C2 exon
chr18:28654649-28654873
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-'10-12,'10-11,11-12=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=0.674 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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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