HsaEX6038538 @ hg38
Exon Skipping
Gene
ENSG00000134757 | DSG3
Description
desmoglein 3 [Source:HGNC Symbol;Acc:HGNC:3050]
Coordinates
chr18:31472725-31478702:+
Coord C1 exon
chr18:31472725-31472788
Coord A exon
chr18:31474121-31474404
Coord C2 exon
chr18:31475646-31478702
Length
284 bp
Sequences
Splice sites
3' ss Seq
ATGTTCTCCCTTGTTTTTAGAAG
3' ss Score
8.43
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
GAAATCACAAATATTTGTGTGCCTCCTGTAACAGCCAATGGAGCCGATTTCATGGAAAGTTCTG
Seq A exon
AAGTTTGTACAAATACGTATGCCAGAGGCACAGCGGTGGAAGGCACTTCAGGAATGGAAATGACCACTAAGCTTGGAGCAGCCACTGAATCTGGAGGTGCTGCAGGCTTTGCAACAGGGACAGTGTCAGGAGCTGCTTCAGGATTCGGAGCAGCCACTGGAGTTGGCATCTGTTCCTCAGGGCAGTCTGGAACCATGAGAACAAGGCATTCCACTGGAGGAACCAATAAGGACTACGCTGATGGGGCGATAAGCATGAATTTTCTGGACTCCTACTTTTCTCAG
Seq C2 exon
AAAGCATTTGCCTGTGCGGAGGAAGACGATGGCCAGGAAGCAAATGACTGCTTGTTGATCTATGATAATGAAGGCGCAGATGCCACTGGTTCTCCTGTGGGCTCCGTGGGTTGTTGCAGTTTTATTGCTGATGACCTGGATGACAGCTTCTTGGACTCACTTGGACCCAAATTTAAAAAACTTGCAGAGATAAGCCTTGGTGTTGATGGTGAAGGCAAAGAAGTTCAGCCACCCTCTAAAGACAGCGGTTATGGGATTGAATCCTGTGGCCATCCCATAGAAGTCCAGCAGACAGGATTTGTTAAGTGCCAGACTTTGTCAGGAAGTCAAGGAGCTTCTGCTTTGTCCACCTCTGGGTCTGTCCAGCCAGCTGTTTCCATCCCTGACCCTCTGCAGCATGGTAACTATTTAGTAACGGAGACTTACTCGGCTTCTGGTTCCCTCGTGCAACCTTCCACTGCAGGCTTTGATCCACTTCTCACACAAAATGTGATAGTGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134757-'14-16,'14-14,15-16=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.136 A=0.232 C2=0.137
Domain overlap (PFAM):
C1:
NO
A:
PF0104912=Cadherin_C=PU(22.7=21.1)
C2:
PF0104912=Cadherin_C=PD(75.0=32.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGTGTGCCTCCTGTAACAGC
R:
GCTGTCTTTAGAGGGTGGCTG
Band lengths:
296-580
Functional annotations
There are 1 annotated functions for this event
PMID: 11500511
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: cleavage reaction, confocal microscopy, edman degradation, western blot. ELM ID: ELMI001926; ELM sequence: DYADG; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains