HsaEX0020995 @ hg38
Exon Skipping
Gene
ENSG00000134755 | DSC2
Description
desmocollin 2 [Source:HGNC Symbol;Acc:HGNC:3036]
Coordinates
chr18:31058840-31069151:-
Coord C1 exon
chr18:31068894-31069151
Coord A exon
chr18:31068299-31068344
Coord C2 exon
chr18:31058840-31068212
Length
46 bp
Sequences
Splice sites
3' ss Seq
TGTGCATTTTTTATGTATAGGAA
3' ss Score
7.77
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
TATTCTGCGAATGGCTTCACAACCCAAACTGTGGGCGCTTCTGCTCAGGGAGTTTGTGGCACCGTGGGATCAGGAATCAAAAACGGAGGTCAGGAGACCATCGAAATGGTGAAAGGAGGACACCAGACCTCGGAATCCTGCCGGGGGGCTGGCCACCATCACACCCTGGACTCCTGCAGGGGAGGACACACGGAGGTGGACAACTGCAGATACACTTACTCGGAGTGGCACAGTTTTACTCAGCCCCGTCTTGGTGAA
Seq A exon
GAATCCATTAGAGGACACACTCTGATTAAAAATTAAACAATGAAAG
Seq C2 exon
AAAGTGTATCTGTGTAATCAAGATGAAAATCACAAGCATGCCCAAGACTATGTCCTGACATATAACTATGAAGGAAGAGGATCGGTGGCTGGGTCTGTAGGTTGTTGCAGTGAACGACAAGAAGAAGATGGGCTTGAATTTTTGGATAATTTGGAGCCCAAATTTAGGACACTAGCAGAAGCATGCATGAAGAGATGAGTGTGTTCTAATAAGTCTCTGAAAGCCAGTGGCTTTATGACTTTTAAAAAAAATTACAAACCAAGAATTTTTTAAAGCAGAAGATGCTATTTGTGGGGGTTTTTCTCTCATTATTTGGATGGAATCTCTTTGGTCAAATGCACATTTACAGAGAGACACTATAAACAAGTACACAAATTTTTCAATTTTTACATATTTTTAAATTACTTATCTTCTATCCAAGGAGGTCTACAGAGAAATTAAAGTCTGCCTTATTTGTTACATTTGGGTATAATGACAACAGCCAATTTATAGTGCAATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134755_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.209 A=1.000 C2=0.015
Domain overlap (PFAM):
C1:
PF0104912=Cadherin_C=PU(47.2=68.6)
A:
NO
C2:
PF0104912=Cadherin_C=PD(51.2=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:
TGGCACAGTTTTACTCAGCCC
R:
CAACAACCTACAGACCCAGCC
Band lengths:
140-186
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