Special

HsaEX6038508 @ hg19

Exon Skipping

Gene
Description
desmocollin 1 [Source:HGNC Symbol;Acc:3035]
Coordinates
chr18:28714535-28720264:-
Coord C1 exon
chr18:28720005-28720264
Coord A exon
chr18:28719711-28719853
Coord C2 exon
chr18:28714535-28714747
Length
143 bp
Sequences
Splice sites
3' ss Seq
ATTTGATTTCTAAAAATTAGGTA
3' ss Score
4.9
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CCATTGAACTATGAAGTCAATCGCCAAGTTATTTTGCAAGTTGGTGTCATTAACGAGGCACAATTCTCTAAAGCAGCGAGCTCACAAACTCCTACAATGTGCACTACAACTGTCACCGTTAAAATTATAGACAGTGATGAGGGCCCTGAATGCCACCCTCCAGTGAAAGTTATTCAGAGTCAAGATGGCTTCCCAGCTGGCCAAGAACTCCTTGGATACAAAGCACTGGACCCGGAAATATCCAGTGGTGAAGGCTTAAG
Seq A exon
GTATCAGAAGTTAGGGGATGAAGATAACTGGTTTGAAATTAATCAACACACTGGCGACTTGAGAACTCTAAAAGTACTAGATAGAGAATCCAAATTTGTAAAAAACAACCAATACAATATTTCAGTTGTTGCAGTGGATGCAG
Seq C2 exon
TTGGCCGATCTTGCACTGGAACATTAGTAGTTCATTTGGATGATTACAACGATCACGCACCTCAAATTGACAAAGAAGTGACCATTTGTCAGAATAATGAGGATTTTGCTGTTCTGAAACCTGTAGATCCAGATGGACCTGAAAATGGACCACCTTTTCAATTCTTTCTGGATAATTCTGCCAGTAAAAACTGGAACATAGAAGAAAAGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134765-'9-10,'9-9,10-10=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=0.218 A=0.020 C2=0.139
Domain overlap (PFAM):

C1:
PF0002812=Cadherin=PD(40.0=48.3),PF0002812=Cadherin=PU(33.3=35.6)
A:
PF0002812=Cadherin=FE(51.6=100)
C2:
PF0002812=Cadherin=PD(14.0=18.1),PF0002812=Cadherin=PU(54.0=65.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGAGCTCACAAACTCCTACA
R:
TTTGAGGTGCGTGATCGTTGT
Band lengths:
251-394
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains