HsaEX0020999 @ hg38
Exon Skipping
Gene
ENSG00000134762 | DSC3
Description
desmocollin 3 [Source:HGNC Symbol;Acc:HGNC:3037]
Coordinates
chr18:30990008-30997048:-
Coord C1 exon
chr18:30996791-30997048
Coord A exon
chr18:30994454-30994496
Coord C2 exon
chr18:30990008-30994372
Length
43 bp
Sequences
Splice sites
3' ss Seq
TTTGCATTTTCTGTGTGTAGGAA
3' ss Score
9.04
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
TGCTCTGCCAATGGATTTATGACCCAAACTACCAACAACTCTAGCCAAGGTTTTTGTGGTACTATGGGATCAGGAATGAAAAATGGAGGGCAGGAAACCATTGAAATGATGAAAGGAGGAAACCAGACCTTGGAATCCTGCCGGGGGGCTGGGCATCATCATACCCTGGACTCCTGCAGGGGAGGACACACGGAGGTGGACAACTGCAGATACACTTACTCGGAGTGGCACAGTTTTACTCAACCCCGTCTCGGTGAA
Seq A exon
GAATCCATTAGAGGACACACTGGTTAAAAATTAAACATAAAAG
Seq C2 exon
AAATTGCATCGATGTAATCAGAATGAAGACCGCATGCCATCCCAAGATTATGTCCTCACTTATAACTATGAGGGAAGAGGATCTCCAGCTGGTTCTGTGGGCTGCTGCAGTGAAAAGCAGGAAGAAGATGGCCTTGACTTTTTAAATAATTTGGAACCCAAATTTATTACATTAGCAGAAGCATGCACAAAGAGATAATGTCACAGTGCTACAATTAGGTCTTTGTCAGACATTCTGGAGGTTTCCAAAAATAATATTGTAAAGTTCAATTTCAACATGTATGTATATGATGATTTTTTTCTCAATTTTGAATTATGCTACTCACCAATTTATATTTTTAAAGCAAGTTGTTGCTTATCTTTTCCAAAAAGTGAAAAATGTTAAAACAGACAACTGGTAAATCTCAAACTCCAGCACTGGAATTAAGGTCTCTAAAGCATCTGCTCTTTTTTTTTTTTACGGATATTTTAGTAATAAATATGCTGGATAAATATTAGTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134762-'28-25,'28-24,29-25
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=0.232 A=1.000 C2=0.231
Domain overlap (PFAM):
C1:
PF0104912=Cadherin_C=PU(47.2=68.6)
A:
NO
C2:
PF0104912=Cadherin_C=PD(51.2=97.0)
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:
TCATACCCTGGACTCCTGCAG
R:
GGCATGCGGTCTTCATTCTGA
Band lengths:
138-181
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