HsaEX0020993 @ hg38
Exon Skipping
Gene
ENSG00000134765 | DSC1
Description
desmocollin 1 [Source:HGNC Symbol;Acc:HGNC:3035]
Coordinates
chr18:31129236-31131842:-
Coord C1 exon
chr18:31131594-31131842
Coord A exon
chr18:31130793-31130838
Coord C2 exon
chr18:31129236-31130711
Length
46 bp
Sequences
Splice sites
3' ss Seq
TGTGCATTTTTTATATATAGGAA
3' ss Score
8.45
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GAAGCAAATATTAGACTCCCCATGCAGACATCCAACATTTGTGACACAAGCATGTCTGTTGGTACTGTTGGTGGCCAGGGAATCAAAACACAGCAAAGTTTTGAGATGGTCAAAGGAGGCTACACTTTGGATTCCAACAAAGGAGGTGGACATCAGACCTTGGAGTCCGTCAAGGGAGTGGGGCAGGGAGATACTGGCAGATATGCGTACACGGACTGGCAGAGTTTCACCCAACCTCGGCTTGGCGAA
Seq A exon
GAATCCATTAGAGGACACACTCTGATTAAAAATTAAACAGTAAAAG
Seq C2 exon
AAGGTGTATTTGTGTGGACAAGATGAGGAGCATAAACATTGTGAAGACTACGTTTGTTCGTATAACTATGAAGGCAAAGGTTCTCTGGCCGGCTCAGTAGGTTGCTGCAGCGATCGGCAGGAAGAAGAGGGACTGGAGTTTCTAGATCACCTGGAACCCAAATTTAGGACATTAGCAAAGACATGCATCAAGAAATAAATGTGCCTTTTAATAGTGTAATATCCACAGATGCATAAGTAGGAATTTATTACTTGCAGAATGTTAGCAGCATCTGCTAATGTTTTTGTTTATGGAGGTAAACTTTGTCATGTATAGGTAAGGGTACTATAAATATGAGATTCCCCTACATTCTCCTTGTCTGGTATAACTTCCATGTTCTCTAGAAATCAAGGTTTTGTTTGTTAATTCTCTTTTATATGCATGTATATATTGCCCTTTTCACGACTGTACTGTACACCTTCTTGCACCTTTTATTTGCAAACTGATGTTACTTTTTGTGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134765_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.173 A=1.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0104912=Cadherin_C=FE(46.1=100)
A:
NO
C2:
PF0104912=Cadherin_C=PD(36.0=97.0)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATATGCGTACACGGACTGGC
R:
GCCAGAGAACCTTTGCCTTCA
Band lengths:
139-185
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development