HsaEX0021022 @ hg38
Exon Skipping
Gene
ENSG00000134760 | DSG1
Description
desmoglein 1 [Source:HGNC Symbol;Acc:HGNC:3048]
Coordinates
chr18:31343926-31357029:+
Coord C1 exon
chr18:31343926-31343995
Coord A exon
chr18:31345990-31346198
Coord C2 exon
chr18:31354297-31357029
Length
209 bp
Sequences
Splice sites
3' ss Seq
AATTTGATCAACACTTTTAGGAG
3' ss Score
4.06
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
GATATAACCACTGTCATACCACAAATACCACCTGATAACGCAAATATAATTGAATGCATTGACAACTCAG
Seq A exon
GAGTTTATACAAATGAGTATGGTGGCAGAGAAATGCAAGATCTGGGAGGAGGAGAGAGAATGACAGGATTTGAACTAACAGAGGGAGTTAAAACTTCAGGAATGCCTGAGATATGTCAAGAATACTCTGGAACATTAAGAAGAAATTCTATGAGGGAATGTAGAGAAGGAGGTCTGAATATGAATTTCATGGAAAGCTACTTCTGTCAG
Seq C2 exon
AAAGCATATGCTTACGCAGATGAAGATGAAGGACGCCCATCTAATGACTGTTTGCTCATATATGACATCGAAGGTGTAGGTTCCCCTGCTGGCTCTGTGGGTTGTTGTAGCTTCATTGGAGAAGACCTGGATGACAGCTTCTTGGATACCCTGGGACCTAAATTTAAGAAGTTGGCAGACATCAGCCTAGGAAAAGAATCATATCCAGACCTTGATCCTTCTTGGCCACCACAAAGCACTGAACCAGTTTGCCTTCCTCAGGAAACAGAGCCCGTTGTTAGTGGACACCCACCAATCTCCCCACATTTCGGCACTACCACAGTAATTTCTGAGAGCACCTATCCCTCGGGACCTGGTGTACTGCATCCTAAGCCTATTCTCGATCCTCTGGGCTATGGTAATGTCACTGTGACCGAGTCTTACACCACCTCTGACACTCTGAAGCCCTCTGTGCACGTTCACGATAACCGACCAGCATCAAACGTGGTAGTGACAGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134760_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.333 A=0.140 C2=0.430
Domain overlap (PFAM):
C1:
PF0104912=Cadherin_C=PU(3.6=20.8)
A:
PF0104912=Cadherin_C=PU(46.3=96.6)
C2:
PF0104912=Cadherin_C=PD(45.7=18.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACAAATACCACCTGATAACGC
R:
TGGTTCAGTGCTTTGTGGTGG
Band lengths:
298-507
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