HsaINT0052422 @ hg38
Intron Retention
Gene
ENSG00000134760 | DSG1
Description
desmoglein 1 [Source:HGNC Symbol;Acc:HGNC:3048]
Coordinates
chr18:31333589-31334202:+
Coord C1 exon
chr18:31333589-31333723
Coord A exon
chr18:31333724-31334016
Coord C2 exon
chr18:31334017-31334202
Length
293 bp
Sequences
Splice sites
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
3' ss Seq
GTTTTCACTTCTTGTTTCAGTAT
3' ss Score
8.73
Exon sequences
Seq C1 exon
CAATACGGCCAGTATGCTCTTGCTGTAAGAGGCTCTGACCGAGATGGCGGGGCAGATGGCATGTCAGCGGAATGTGAGTGCAACATTAAAATCCTCGATGTCAATGATAATATCCCTTACATGGAACAGTCTTCA
Seq A exon
GTAAGTATTTGTTCTTGGAATTAATAAATCTAAATTCGCTATATTCTAAAACATATACGAACAATTCTGCTTACAGAGGCACATGTTATGTTTATTGACATACAACCCAAATGTAGACACATACTTTTTTCTTGTGTTTATGCAAGAATAAATGGAGTTAAGCAATGAAAAATGAGATGAAAACCACAGATATCTTTTCTAAATAATGAAGTTATCAACATTCCAGTATAAGCCTACTGTAGTTCTCTCTCTTTCACACAGTTTGTGCTAAGAGTTTTCACTTCTTGTTTCAG
Seq C2 exon
TATACCATAGAAATTCAAGAAAATACTCTAAATTCAAATTTGCTCGAGATTAGAGTAATTGATTTGGATGAAGAGTTCTCAGCTAACTGGATGGCAGTAATTTTCTTTATCTCTGGAAATGAAGGAAATTGGTTTGAGATAGAAATGAATGAAAGAACAAATGTGGGAATTTTAAAGGTTGTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134760:ENST00000257192:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=PD(31.3=68.9)
A:
NA
C2:
PF0002812=Cadherin=PU(58.7=98.4)
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:
ATACGGCCAGTATGCTCTTGC
R:
TTCCCACATTTGTTCTTTCATTCA
Band lengths:
302-595
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