Special

HsaEX6038523 @ hg19

Exon Skipping

Gene
Description
desmoglein 1 [Source:HGNC Symbol;Acc:3048]
Coordinates
chr18:28898052-28906968:+
Coord C1 exon
chr18:28898052-28898311
Coord A exon
chr18:28906544-28906579
Coord C2 exon
chr18:28906837-28906968
Length
36 bp
Sequences
Splice sites
3' ss Seq
GATTATCTTATTTTTTACAGGTG
3' ss Score
9.62
5' ss Seq
CAGGTAATA
5' ss Score
8.55
Exon sequences
Seq C1 exon
CCAGCCCAAGTTTTTAGGGTGGGGATCCAGACTGGTTATACGTACCTTCAGTCCTTCTCCCAGAGGAAGGCAGAAACACCTCAAAGCCTGCATGTAAGAACATCTACTGAGAAATTATTTTAATCAGACACCAGCTGAGTGGGAGAAAGAAAAAGAACAGAGAAGAACAAACAAAACTCCCTTGGTCTTGGATGTAAGAGAATCCAGCAGAGATGGACTGGAGTTTCTTCAGAGTAGTTGCAATGCTGTTCATTTTTCTG
Seq A exon
GTGGTGGTAGAAGTTAACAGTGAATTCCGAATCCAG
Seq C2 exon
GTAAGAGATTATAACACTAAAAATGGCACCATCAAATGGCATTCAATCCGAAGGCAGAAACGTGAATGGATCAAGTTCGCAGCAGCCTGTCGTGAAGGTGAAGACAACTCAAAGAGGAACCCAATCGCCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134760-'0-1,'0-0,1-1=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.023
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0002812=Cadherin=PU(18.9=40.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAGCAGAGATGGACTGGAG
R:
TCTGCCTTCGGATTGAATGCC
Band lengths:
116-152
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains