HsaINT0052413 @ hg38
Intron Retention
Gene
ENSG00000134760 | DSG1
Description
desmoglein 1 [Source:HGNC Symbol;Acc:HGNC:3048]
Coordinates
chr18:31339744-31343583:+
Coord C1 exon
chr18:31339744-31340025
Coord A exon
chr18:31340026-31343449
Coord C2 exon
chr18:31343450-31343583
Length
3424 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGT
5' ss Score
9.11
3' ss Seq
TACTATCCCTCCACCACCAGTGG
3' ss Score
6.06
Exon sequences
Seq C1 exon
ATAATCTTCAAAGAACTTGCACTGGTACAATTAATATTAACATTCAAAGTTTTGGTAATGACGACAGGACTAATACAGAGCCGAACACTAAAATTACTACCAATACTGGCAGACAAGAAAGTACTTCTTCCACTAACTATGATACCAGCACAACTTCTACTGACTCTAGCCAAGTATATTCTTCTGAACCCGGAAACGGAGCCAAAGATTTGTTATCAGACAATGTACATTTTGGTCCTGCTGGCATTGGACTCCTCATCATGGGATTCTTGGTCTTAGGAT
Seq A exon
GTAAGTACTTTAGCAATCCTATGTATATGTGTCCCCCAAAAAATGCTGGGGGAGGAGTTAAGTTTTCTGATTCTTTGATAAAACGTATTTTACAAATTCTCATTTTGTGCAATTATAAAGAAACTTCTGTGTTTGGCACTGGGTTTATAAGATGAAAAAATTAAACTTTTTGACCCCTTCTAAGACTGTGGAGGATAAAAATTTATTTGCAGTAAGTCTCAATGTAATGGGAAAGTGCCATAACAAGCAGGCTCAAATTGCTATTTCAGTGAAGAAGACAATCAGAAGAGGCTACAGAGGGCGGGGTGTGGTGGCTCATGCCTGTAATCCCAGAACTTTGAGAGGCCAAGGCTGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAATATGGTGAAGCCCACGTCTCTACTAAAAATACAAAAATGATCCGGGCATGGTGGTAGGTGCCTCTAATCCCAGCTACTAAAGAGGCCGAGGCAGGAGAAGTGCTTGAACCCAGGAGGCGGGGGTTCAGTCTCAAAAAAAAAAAAAAGAAAAGAAAAGGCTACAGAGAAAGAGTAAACTCTGAGTTGCATTTTAAAAGATGAATAAGAATTAGCCTGATGGACAAGAGAAAGGGAACACAATACAAGGGGAAAAAAATCTATGTGCAAAAACCTAAAAGAATGAGAGTGCAAAGTACTGCGATGAAGAACTCCAGTGTGCAAGAAATAAAAGATGCGCATGACAGCATGGTGAAAGTTTAGACTAAAAGATAGGCAGGGGCCAGGTCTCAAAGAGATTTTATTTATACTAACACTGCATAGTATTAATAAAAGGATAGTCAAATAGACCGAGGGTTAAACTCTGGTTTCTAAGCCTAATCGTCTGAGTCTTCCGAAGGTCACCTAACCTTTCTGAGCCTTGCTTTTGCCATGTATGAAATAATACTTACCTTAAAACAGTGCTTTGATGATGAAAAAGAAGTACCACACATGAAGCATTTAGCATGTTCTATGGCCACTAGGGTAGCACTAGTCAAGGGTCTAGCTATAAAGGTAGAATCCAGTGGACTCTCCAGGTGGCTGTTAACATTACCTCGAATGATGATAGAAATTAGAGCAAGATAAACCACATGGCACAGTCTTCGGGAAATGAGAACAGGAGCTCTAAAGTAAGTAGGTTGCAGTCTGCACATTACAATTAAATTAATGCAAACATTGTCATTTTCAAATGTGGAATCATAAAATCTTAATGTCAGAAGGTACCTCAGATATTTAAATCAAACGCTCACACAAAATGTGAAGTCAGAGCGCTTATGTATAAAATATCTTTTCTACTTTCATTTTTCTTGGCACGTGAACAGTGGCAGATATGTTTTGCTACATTTATTTGTGAACTGGGTTTTCTCTGATTTTAAATAACTCATGTTTTTGAAGTTTTCATCAACATTGGGCTCATCTAAACAACGAGTCTGGCCATGGTGATAACACAGCTTAGAGCTGGAGTTCTTTTTCCAAAATTTAAAACGTATTTCCAAAAAATGAAATTTTTACATTAACAAATAAGAGTTTATTCTTACTGGCTCATAATTAATTGAAGTAATAACCAGGAAAAGTTCTATGAAACAGAGAAAAGGGAAAGAGAGAAAGAAAAAAGCATTCTCATCAAAATGAACCAAGACAAGATAAAGGCAAAAATGCTAGTGAAGTTGCAGAATATAACATAAAATACATATGAAAAGAGTTCATTCTCTCTGTTATTTATTACCAACTAACATTGTAAAATGTTTAAATTTAATACTTCATAAGAGTAACGTAATTACCCAAGTGCTCATTATCACTACTGTAAATAATACCTAACTTTCATGTTGAGTTTTGTTTGTTTGTTTTCTGGGTTTTTTTTGTTCTTTTGTTTTTTTGTTTTTTTGTTTTTTTTTGAGATGGAGTCTCACTCTCACCCAGGCTGGAGTACAGTGGTGCAATCTCGTCTCACTGTAACCTTTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACCCATGTGCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAAAGATGGGGTTTCACCATATTGGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCTCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGTCCTGAGTTGTTTTTTTACATTGCGGACTACCTCTGGGTACTGTAGTAAATAAAAGATTTATAAATTATATATGGGCCTTAGTCATCACTACCTGTAGACCCAAAGTTTCCTCTAGTAGATTTTCAGAAAACCAATACATGGGCTTCTTTTCCTCTTTTTTTCTTTTTTCTTCTCTCCCTCTCTCCCTTATGTCTATCCTTACTACCTTCCTTCTTCCCTAATTTACTTCCTTCTTTTTTCCTTTCCTCCTTCTTCACAATTTTAATTTACACATTCTTTCTTTCATCCATTTATTCAAAACCATTTACCAAGATTAGATTATATAAGAGGCTGATAATAAATAGATAAATAAGAAAACTCCACTTAACAGCAAAAGACAGTGCTAAGCAGTGTGATGTTTTCTATTTGTATAAGAGTTATTGAAAGAAAAGACACTTGCATAGGGGGAAATAGCCTCACAGAGAATTGTTGGAAGCATGAATAAGATTTTACTGTTGAAATAAAGGCAAGCATATGTTAAAGGAAGACAATAAAGACATGGAGGAGAGAACACAAAGGATCAAATATATTGCCTGACCTTTTCATCTTTCCTTGTTCTCTCCTTTAATATTTTCCTAAATAATGACATGGAAAGATTAATCGGTTTTAATAATGTAATACTATCTGTGATTTTTTTTTTTTTTTTTTTGAGAGAGGGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGCACAACCACCGCCCACCTCCCTGGTTGAGCAGCCTCAACCTCCCTGGCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTAAGACTGCAGGCAAAAGCCCCCATACACGCCTAATTTTTGTATTTTTTGGTAGAGATAGGGTTTCACCATGTTGCTCAGGCTTGTCTCAAGCTCCTGGGCTCTAGTGATCCACCCACTTCCACCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCATGCCAGGCCCACTATTTGTAATTTTTAATACTATAAAATAAACTAAAATTGACTGCAGTCTAATATACAGAAGCTCCCATTTACTTTGGGGTCTGACCATCATTCAGCTTGTATTCTGAAACTTTCATAATTTTAGAACCAACCAGAATTATATTACGAATTCAAATTTAACCATAAAAAATCAGGTTGTTTTGTTTTTTATTTGCACCCAGTGCTAACTCTAGTATTACTATCCCTCCACCACCAG
Seq C2 exon
TGGTCCCATTTTTGATGATCTGTTGTGATTGTGGAGGTGCTCCTCGTAGTGCAGCTGGCTTTGAGCCTGTTCCCGAATGTTCAGATGGAGCAATTCATTCATGGGCAGTAGAAGGACCACAGCCTGAACCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134760:ENST00000257192:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.568 A=NA C2=0.400
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=PD(16.1=15.8)
A:
NA
C2:
NO
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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