Special

HsaEX6038554 @ hg19

Exon Skipping

Gene
Description
desmoglein 2 [Source:HGNC Symbol;Acc:3049]
Coordinates
chr18:29116165-29121277:+
Coord C1 exon
chr18:29116165-29116392
Coord A exon
chr18:29118714-29118941
Coord C2 exon
chr18:29121156-29121277
Length
228 bp
Sequences
Splice sites
3' ss Seq
TCTGCCTCCCAACCTTGTAGGTA
3' ss Score
9.71
5' ss Seq
TATGTAAGT
5' ss Score
6.69
Exon sequences
Seq C1 exon
ATTATCCTAGAAAAACCATCACTGGCACAGTCCTTATCAATGTTGAAGACATCAACGACAACTGTCCCACACTGATAGAGCCTGTGCAGACAATCTGTCACGATGCAGAGTATGTGAATGTTACTGCAGAGGACCTGGATGGACACCCAAACAGTGGCCCTTTCAGTTTCTCCGTCATTGACAAACCACCTGGCATGGCAGAAAAATGGAAAATAGCACGCCAAGAAA
Seq A exon
GTACCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGGAGAAGTGAAATTCAGTTCCTGATTTCAGACAATCAGGGTTTTAGTTGTCCTGAAAAGCAGGTCCTTACACTCACAGTTTGTGAGTGTCTGCATGGCAGCGGCTGCAGGGAAGCACAGCATGACTCCTATGTGGGCCTGGGACCCGCAGCAATTGCGCTCATGATTTTGGCCTTTCTGCTCCTGCTAT
Seq C2 exon
TGGTACCACTTTTACTGCTGATGTGCCATTGCGGAAAGGGCGCCAAAGGCTTTACCCCCATACCTGGCACCATAGAGATGCTGCATCCTTGGAATAATGAAGGAGCACCACCTGAAGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000046604-'12-12,'12-11,13-12=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.013 A=0.000 C2=0.317
Domain overlap (PFAM):

C1:
PF0002812=Cadherin=PD(15.8=19.5)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACGACAACTGTCCCACACTG
R:
TCTTCAGGTGGTGCTCCTTCA
Band lengths:
293-521
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains