HsaEX6038508 @ hg38
Exon Skipping
Gene
ENSG00000134765 | DSC1
Description
desmocollin 1 [Source:HGNC Symbol;Acc:HGNC:3035]
Coordinates
chr18:31134572-31140301:-
Coord C1 exon
chr18:31140042-31140301
Coord A exon
chr18:31139748-31139890
Coord C2 exon
chr18:31134572-31134784
Length
143 bp
Sequences
Splice sites
3' ss Seq
ATTTGATTTCTAAAAATTAGGTA
3' ss Score
4.9
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CCATTGAACTATGAAGTCAATCGCCAAGTTATTTTGCAAGTTGGTGTCATTAACGAGGCACAATTCTCTAAAGCAGCGAGCTCACAAACTCCTACAATGTGCACTACAACTGTCACCGTTAAAATTATAGACAGTGATGAGGGCCCTGAATGCCACCCTCCAGTGAAAGTTATTCAGAGTCAAGATGGCTTCCCAGCTGGCCAAGAACTCCTTGGATACAAAGCACTGGACCCGGAAATATCCAGTGGTGAAGGCTTAAG
Seq A exon
GTATCAGAAGTTAGGGGATGAAGATAACTGGTTTGAAATTAATCAACACACTGGCGACTTGAGAACTCTAAAAGTACTAGATAGAGAATCCAAATTTGTAAAAAACAACCAATACAATATTTCAGTTGTTGCAGTGGATGCAG
Seq C2 exon
TTGGCCGATCTTGCACTGGAACATTAGTAGTTCATTTGGATGATTACAACGATCACGCACCTCAAATTGACAAAGAAGTGACCATTTGTCAGAATAATGAGGATTTTGCTGTTCTGAAACCTGTAGATCCAGATGGACCTGAAAATGGACCACCTTTTCAATTCTTTCTGGATAATTCTGCCAGTAAAAACTGGAACATAGAAGAAAAGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134765-'10-15,'10-13,11-15
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.213 A=0.015 C2=0.139
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=PD(40.0=48.3),PF0002812=Cadherin=PU(33.3=35.6)
A:
PF0002812=Cadherin=FE(51.6=100)
C2:
PF0002812=Cadherin=PD(14.0=18.1),PF0002812=Cadherin=PU(54.0=65.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGAGCTCACAAACTCCTACA
R:
TTTGAGGTGCGTGATCGTTGT
Band lengths:
251-394
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains