HsaEX6038515 @ hg38
Exon Skipping
Gene
ENSG00000134760 | DSG1
Description
desmoglein 1 [Source:HGNC Symbol;Acc:HGNC:3048]
Coordinates
chr18:31336354-31340025:+
Coord C1 exon
chr18:31336354-31336613
Coord A exon
chr18:31338315-31338454
Coord C2 exon
chr18:31339744-31340025
Length
140 bp
Sequences
Splice sites
3' ss Seq
TCATTTTCTTTCAAATACAGGTA
3' ss Score
9.46
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
CCCTTAGATTATGAAGCTATGCAGAGTCTGCAACTCAGTATTGGTGTCAGAAATAAAGCTGAATTTCATCATTCAATTATGTCTCAATATAAACTGAAAGCATCTGCAATTTCTGTGACTGTGTTAAATGTAATTGAAGGCCCAGTGTTTCGTCCAGGTTCAAAGACATATGTTGTAACTGGTAATATGGGATCAAATGATAAAGTGGGAGACTTTGTAGCTACTGACCTGGACACAGGTAGACCTTCAACGACTGTTAG
Seq A exon
GTATGTAATGGGAAATAATCCAGCTGACCTGCTAGCTGTTGATTCAAGAACAGGCAAACTCACTTTGAAAAATAAAGTTACCAAGGAACAGTACAATATGCTCGGAGGAAAATACCAAGGAACGATTCTCTCTATAGATG
Seq C2 exon
ATAATCTTCAAAGAACTTGCACTGGTACAATTAATATTAACATTCAAAGTTTTGGTAATGACGACAGGACTAATACAGAGCCGAACACTAAAATTACTACCAATACTGGCAGACAAGAAAGTACTTCTTCCACTAACTATGATACCAGCACAACTTCTACTGACTCTAGCCAAGTATATTCTTCTGAACCCGGAAACGGAGCCAAAGATTTGTTATCAGACAATGTACATTTTGGTCCTGCTGGCATTGGACTCCTCATCATGGGATTCTTGGTCTTAGGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134760-'10-10,'10-9,11-10=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=0.103 A=0.146 C2=0.568
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=PD(39.4=47.1),PF0002812=Cadherin=PU(32.3=34.5)
A:
PF0002812=Cadherin=FE(50.5=100)
C2:
PF0002812=Cadherin=PD(16.1=15.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACACAGGTAGACCTTCAACG
R:
CAAATCTTTGGCTCCGTTTCCG
Band lengths:
242-382
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains