HsaEX6038509 @ hg38
Exon Skipping
Gene
ENSG00000134765 | DSC1
Description
desmocollin 1 [Source:HGNC Symbol;Acc:HGNC:3035]
Coordinates
chr18:31133891-31139890:-
Coord C1 exon
chr18:31139748-31139890
Coord A exon
chr18:31134572-31134784
Coord C2 exon
chr18:31133891-31134130
Length
213 bp
Sequences
Splice sites
3' ss Seq
CTATTTTTAATTAATCTTAGTTG
3' ss Score
5.11
5' ss Seq
ATGGTATGT
5' ss Score
8.35
Exon sequences
Seq C1 exon
GTATCAGAAGTTAGGGGATGAAGATAACTGGTTTGAAATTAATCAACACACTGGCGACTTGAGAACTCTAAAAGTACTAGATAGAGAATCCAAATTTGTAAAAAACAACCAATACAATATTTCAGTTGTTGCAGTGGATGCAG
Seq A exon
TTGGCCGATCTTGCACTGGAACATTAGTAGTTCATTTGGATGATTACAACGATCACGCACCTCAAATTGACAAAGAAGTGACCATTTGTCAGAATAATGAGGATTTTGCTGTTCTGAAACCTGTAGATCCAGATGGACCTGAAAATGGACCACCTTTTCAATTCTTTCTGGATAATTCTGCCAGTAAAAACTGGAACATAGAAGAAAAGGATG
Seq C2 exon
GTAAAACTGCCATTCTTCGTCAACGGCAAAATCTTGATTATAACTATTATTCTGTGCCTATTCAAATAAAAGACAGGCATGGTTTAGTTGCAACACATATGTTAACAGTGAGAGTATGTGACTGTTCAACTCCATCTGAGTGTAGAATGAAGGATAAAAGTACAAGAGACGTTAGACCAAATGTAATACTTGGAAGATGGGCTATTCTTGCTATGGTGTTGGGTTCTGTATTGTTATTAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134765-'11-17,'11-15,13-17=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=0.139 C2=0.025
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=FE(51.6=100)
A:
PF0002812=Cadherin=PD(14.0=18.1),PF0002812=Cadherin=PU(54.0=65.3)
C2:
PF0002812=Cadherin=PD(44.8=48.1)
Main Skipping Isoform:
ENST00000257197fB14296
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACTGGCGACTTGAGAACTC
R:
AGCAAGAATAGCCCATCTTCCA
Band lengths:
308-521
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains