HsaINT0052450 @ hg38
Intron Retention
Gene
ENSG00000134757 | DSG3
Description
desmoglein 3 [Source:HGNC Symbol;Acc:HGNC:3050]
Coordinates
chr18:31459845-31460961:+
Coord C1 exon
chr18:31459845-31460011
Coord A exon
chr18:31460012-31460832
Coord C2 exon
chr18:31460833-31460961
Length
821 bp
Sequences
Splice sites
5' ss Seq
GAGGTACAG
5' ss Score
6.62
3' ss Seq
TATTTTTTATCCAAAATTAGCAA
3' ss Score
2.76
Exon sequences
Seq C1 exon
ACTCACTGGTGATGATACTAAATGCCACAGATGCAGATGAACCAAACCACTTGAATTCTAAAATTGCCTTCAAAATTGTCTCTCAGGAACCAGCAGGCACACCCATGTTCCTCCTAAGCAGAAACACTGGGGAAGTCCGTACTTTGACCAATTCTCTTGACCGAGAG
Seq A exon
GTACAGCAAAGCACTTGGGGGAACATTCAAGATTAAAGGGTTTGATTATAAGAAAACCAAGAGAGGTGACTCCATTTTACCCGAAAATTAAAAAAGAAAAGAGGTTCTCAGTACTTAACTTGGCTAATCTAGGGAAATTGTTTGCATTTTTAAGTGTGATTCTGGTGAGGCGAGATGTGTACCGGGCACCTGCAGAATCAGTTGTACCCTGAACATACCAGTGGAAGTTAAATAGGGGCAATGAAAGAAGGCATTGACATAGACATACATGGACAAAGATTGAACTGCAGCTAATTCCTCATGTGATGGAGGAGAAGCAAGTGTCTTAGATGAAGGGAGAAATTTCTGTCTGGAATAAAGCCTTCTTTTATATCACACTTTTTCTCCTGACTTCTCTTAATTTTATCCCTGCTTCCAGAGCACTAAAGAATCTCCTTCTCCAATCCCCCTCATTACCTACCACCACCACCTTCTATCTCCATTACCACAGGCTACCCGGTCAGACCCCATATTATTTTTGTACAAATGGCTTTCCCAATAGACTAACAGAGAAGCTCCATAAGTGAGCTTATTACTCCCACCCTACTCATTGCCCATTTTTGCTCTAAGGTTACGGTAGAGTACAGTCCTGCCATAAGAAGCTCACAAAACAGAAAACCTGCCCTAGCCCCTTAAAGACCTCCACCCAACCATCCAGAGTCCCACAAATGTCTTCTACATAAAATTGAATATTTCTACCTCCTTACCCATAGGAATCAAGTAGTTTCCATTTATAATTCTTTGGGATTAATTATTTTTCTTTATTTTTTATCCAAAATTAG
Seq C2 exon
CAAGCTAGCAGCTATCGTCTGGTTGTGAGTGGTGCAGACAAAGATGGAGAAGGACTATCAACTCAATGTGAATGTAATATTAAAGTGAAAGATGTCAACGATAACTTCCCAATGTTTAGAGACTCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134757:ENST00000257189:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.107 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=FE(56.7=100)
A:
NA
C2:
PF0002812=Cadherin=PD(29.9=67.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCACTGGTGATGATACTAAATGCCA
R:
CTGAGAGTCTCTAAACATTGGGA
Band lengths:
294-1115
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development