HsaINT0052421 @ hg38
Intron Retention
Gene
ENSG00000134760 | DSG1
Description
desmoglein 1 [Source:HGNC Symbol;Acc:HGNC:3048]
Coordinates
chr18:31331701-31333723:+
Coord C1 exon
chr18:31331701-31331867
Coord A exon
chr18:31331868-31333588
Coord C2 exon
chr18:31333589-31333723
Length
1721 bp
Sequences
Splice sites
5' ss Seq
GAGGTAATT
5' ss Score
8.88
3' ss Seq
CCTGTAATATGTATTTTTAGCAA
3' ss Score
6.02
Exon sequences
Seq C1 exon
ATACACTGGTGATGATACTCAATGCTACTGACGCAGATGAACCGAACAATTTGAACTCAAAAATAGCCTTCAAGATTATAAGACAAGAACCTTCAGATTCACCAATGTTTATTATCAACAGAAATACTGGAGAAATTCGAACGATGAATAATTTTCTAGACAGAGAG
Seq A exon
GTAATTCTTTTTCTTTAAGTGGGTTTTTGGTCTCAAAGGAACTGATTCTAAAAGCAAGGATACTGAAGAGACAAAGAGATGAAGAAAATGATGGTTTAAATTTTTACTTGTATAACTTTTTCACATAATTCTTTCATGTAAGAAATATTTTTTAAATGAAAAAGGGAGGATTTTTCAATTACGTTTTGTACTATTTTTCATATAATTAATTGATTAAAATTTACTTCAATTTAAGAAAACTATATTGTGAAAGTACATGAAAATATGCCTAAGGTAGAATCTAAGGTAGAATCAAAAGCTCCATTTCTCTAAAAAGTGTGTTCTATAATAAAATGAATTTAGGAATGACTTGCTATATGTCCACGTTTTGGTGAGTTACAGTGCATGCGAGTATGCTGGAGGCTCCAGGAATATTGATACACTAAGTTCTCTTTCTTTAACCTAGCATATCTAAGCTCCATTGACAACAGAATTCTTGTTTTTCCTATGTAACATCTATTGATAGCTCACCCATTCATTTACTTTGGGAAATGAACCACAGGATAAGAATGATGGATAGGAATTAAATGACAGACTGACCAATCTTTTTATTTACAAATAAGAAAATAACTAGTGATGTTAACAGAGTAAAATCAGCATTATGAGGTTTCTAGCATGCCTTGTGATTTTATGATTTAGTTTTAAAATAAGTGCTTTTTCATTATTTAAAAAAAATTGTCTTTTAATAGAATGTTGCAACCTAAATGTACATTAGGAGCATAAGTGAGGAAGCTTTATTTTCTGATGGTATTCAATTAATTTTGTTTTAATTATTAAAAATGACAATCTTCTTGCTGATGACTTTTAGGTTTAGGATAATTCATATTATTTTAATACTCTTTAATTATCTAAATGTTACAAGTTTCTATGTTACCTAAGTCTCCTTTTATACATGTTTGAAAATCAACATTAGAAGAAATTGAATGTTTACACTTTTCTCTCTCAAACTGTCTTAAACAGCCCAATGAGGTTTCTTTCATGTCAAAAGAGCTTTCGTGGTAAAGCACTGTAAGAAAGGGCTGTCAGAAGGAAAGGGACTCTGCAGCCATTGGGAAGCCACCAGGGCAGATATTCTCAACCTGGGGTCAATGGAGAGACCTCAAGATGTCTCTATAAAACCCCCTAAATTATATCCACCATTTTGAATGAGTGTGCATTTTTGCATGAGTCAAGGAAAGCCTCCATAGATTTTACCAGCTTCTAGAAATATAAGCACCATTGAATAGAGTCAAGAATAGATACATCACCAATAATTCCACTGCCATAACCCACTACCTCTCAAAACACAAAGCTTTGTTATCTGTTTATATGCTTCTTGCACACTCGGGGGCTGATTATTTAGGTTATGGAATATTCATGCCATAAATTTTTGGTAAACTTAATCTCTCTCCTTGAGATCATTCTGGTTTGTTTTACCCTTTATAAACTTTTTCAACCTCTGGACATATTATTATTAATAAGAAATGAAGCCTTTTAAAACGTGTTGCATCTTTTAAATAATGCGTGATAAGTATTATTGGGAATAATCATGTGAAACTTGTGGATTTCCCATATTCTGTGTTAACCCTACCTCTATCATAGATTTATGTAAACGTTGAGCCAACTTTTCAAAGAACTTTACATAAGACAAAGTAAAGGCTGTCTACGTCAAGTGTGATATTGCCTGTAATATGTATTTTTAG
Seq C2 exon
CAATACGGCCAGTATGCTCTTGCTGTAAGAGGCTCTGACCGAGATGGCGGGGCAGATGGCATGTCAGCGGAATGTGAGTGCAACATTAAAATCCTCGATGTCAATGATAATATCCCTTACATGGAACAGTCTTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134760:ENST00000257192:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.018 A=NA C2=0.044
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=FE(55.6=100)
A:
NA
C2:
PF0002812=Cadherin=PD(31.3=68.9)
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:
ATACACTGGTGATGATACTCAATGCT
R:
TGAAGACTGTTCCATGTAAGGGA
Band lengths:
302-2023
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