Special

HsaINT0052413 @ hg19

Intron Retention

Gene
Description
desmoglein 1 [Source:HGNC Symbol;Acc:3048]
Coordinates
chr18:28919707-28923546:+
Coord C1 exon
chr18:28919707-28919988
Coord A exon
chr18:28919989-28923412
Coord C2 exon
chr18:28923413-28923546
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-DSG1:NM_001942:11
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
([1])
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