HsaEX6038523 @ hg38
Exon Skipping
Gene
ENSG00000134760 | DSG1
Description
desmoglein 1 [Source:HGNC Symbol;Acc:HGNC:3048]
Coordinates
chr18:31318089-31327005:+
Coord C1 exon
chr18:31318089-31318348
Coord A exon
chr18:31326581-31326616
Coord C2 exon
chr18:31326874-31327005
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-'0-2,'0-1,3-2=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 Skipping Isoform:
ENST00000257192fB14309
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
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