HsaINT0052440 @ hg38
Intron Retention
Gene
ENSG00000134757 | DSG3
Description
desmoglein 3 [Source:HGNC Symbol;Acc:HGNC:3050]
Coordinates
chr18:31465318-31466754:+
Coord C1 exon
chr18:31465318-31465457
Coord A exon
chr18:31465458-31466529
Coord C2 exon
chr18:31466530-31466754
Length
1072 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
3' ss Seq
CTAAAACATTGTTCTTACAGAAT
3' ss Score
6.65
Exon sequences
Seq C1 exon
ATATGTCATGGGACGTAACGATGGTGGATACCTAATGATTGATTCAAAAACTGCTGAAATCAAATTTGTCAAAAATATGAACCGAGATTCTACTTTCATAGTTAACAAAACAATCACAGCTGAGGTTCTGGCCATAGATG
Seq A exon
GTAAGAAAAATATTTGAATCATTTCAGAGGAATGTTATCGTAATTGATGTTTCTTTATGCATAGATGATTATGATTATTCAACATATTATCTTTACCACTGGAGAGAGAGAATTATCTTAGGAGTGTTGGGCCTCAAGTTTGAGGCAGCTGAATCCGGGAGAGAAAACTAAGAGTTTCAACTTCTCAGTGGAGATTGAACCAGTGAATTCTGTGTTAGGTCCCTGTGGTTTGCTGTGGTTGAAGCAGAAATTTTTTGACTGACAGAAATCCCTGGGTTTGAGGGAATGGATAAGGATTCATAGACAAAGCGCATCAGGGAATCTCAACTTGAACGTCAGGTGCTTTTGTGAGGTACCTATAGAGACCTCATGTACTTTTATCATTGAACAATGCAATTTCCTCTTCTGGAATGTTTTAAAATAATATTCATTGAGTGTATGTGTTTCCCCAAGTATAAAATTAATTTATGTTGAAGGTAATAAAAAAGATAACACCCCCCAAAAGAAATAAGTATCAAAAAGATTGCCATTTGGGAAAACAAGAAAAGAAGTAGTAAGGGTAACAACAGAAATGACACATAATGCCCCCACAGAGAGATTTTTATTTCATTATTTTTTATTTTCAGCATTTAAAATTTTTCTTTAATAAACTTTAACATTTTGAGTAATAAAAATATACAATTTTTTATTCCAAATAAAAAATGTGTGCTTTAGAAGCAGAAACTTTTCACACATTGATTACAAGTGAAATCAACACATTTAAGAAAGTTACTATTTTTGTGCTGATTTTATTTGAAATTGGTGAATTCATCATCTTACTGGTCTTGGGTTCGAGCATATTAAATTAATTCTCAATTAATTATAGTTAGAGACATCAGCCTATTTGGTAAATTTCAATTTGCTTTTTACAAGATGCAGAAATAGGATGACTATTTTTACTTCTGAGGATAATATAGTATTTCATGAGAAGACACACTGAGTTGGCTACAGAAAAGAGAAATGTAAAAGATTCTCCTTTTTTGTACAACTTTGTTCTATACATTTCTTTAACTCTAAAACATTGTTCTTACAG
Seq C2 exon
AATACACGGGTAAAACTTCTACAGGCACGGTATATGTTAGAGTACCCGATTTCAATGACAATTGTCCAACAGCTGTCCTCGAAAAAGATGCAGTTTGCAGTTCTTCACCTTCCGTGGTTGTCTCCGCTAGAACACTGAATAATAGATACACTGGCCCCTATACATTTGCACTGGAAGATCAACCTGTAAAGTTGCCTGCCGTATGGAGTATCACAACCCTCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134757:ENST00000257189:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=FE(51.1=100)
A:
NA
C2:
PF0002812=Cadherin=PD(16.3=19.7)
Main Inclusion Isoform:
NA

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:
CATGGGACGTAACGATGGTGG
R:
TGATACTCCATACGGCAGGCA
Band lengths:
347-1419
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development