Special

HsaINT0052442 @ hg38

Intron Retention

Gene
Description
desmoglein 3 [Source:HGNC Symbol;Acc:HGNC:3050]
Coordinates
chr18:31469089-31472423:+
Coord C1 exon
chr18:31469089-31469349
Coord A exon
chr18:31469350-31472283
Coord C2 exon
chr18:31472284-31472423
Length
2934 bp
Sequences
Splice sites
5' ss Seq
TGTGTGAGT
5' ss Score
5.84
3' ss Seq
TTTGTTTTGTTTTTCACTAGTGG
3' ss Score
8.06
Exon sequences
Seq C1 exon
CTACCTCGGCCCTCCTCAGAGCCCAGGAACAGATACCTCCTGGAGTATACCACATCTCCCTGGTACTTACAGACAGTCAGAACAATCGGTGTGAGATGCCACGCAGCTTGACACTGGAAGTCTGTCAGTGTGACAACAGGGGCATCTGTGGAACTTCTTACCCAACCACAAGCCCTGGGACCAGGTATGGCAGGCCGCACTCAGGGAGGCTGGGGCCTGCCGCCATCGGCCTGCTGCTCCTTGGTCTCCTGCTGCTGCTGT
Seq A exon
GTGAGTAGCCAATGTTTCATTCTCTGTTGGACCAGGTGTCCTCATTTGCAAAGGCCTCCATGCTGCCCTGCTCATCTGTGCAATGGGGAAAGAATATTCTCTGATGTTTTATAGGTAAAGCTAGGGGAAAATGGCATTTTCAGAAAGAATCTGAAATGTGTAACATGTCGCTTGCTAACAGTCTATATTCATATAGCAACACAAGTTATATATGTCAGACATTTAGAAGACAGCACAAGATAATCAAGAGAAAAGCAAATCATGAAGACTTTCTACACACTGTTAGTAATGTTCATGGTCAAAATTATGGCTTTATCCAAGAGTGTGGCACTTTCTAAGATGTTTTCTCTATATTCATTACATCTCATGAGATTCTAAGATAAAAAGAGAACACTAGTCAAACAAAGTTAGGGAAATACAAATAGGGTATCATAGGCTATTAAGATATCACCACATGCTATTAATATTAATTAATTAATTAACCCCCACTAATATTAATCAATAGCATATGATATTAATATTAATATCATATGCTATTAAGATAGCTAGGTTCTGAGAAGTTATTGCTTCATCTAGCATTTCCTCAAAATAGATTGCCATCTGAATATGCATCCCCTTTAATACTTTCACATTTAATATAACTAAGTTTATTAAACACATTTAGAAAACTATGCGTAAGTATCCTTTTCCAATAAAGGTAAAATTTATTCAATAGATAGGTTTCTGAAAAGTTGTATTTGAATCAAAATCATATAAATCAAATAGTATTTGATTGTAAGAGGTCTCTATTTAAAAGAACTTCCTGACTAATTCTTGTATAAACAAGAGAAATCCTTGCTAAATTCACACTTTCTTAATTTATTATAAAAATCACAGTTTTAGAGTTAAAATTAATTATATGATTATTAATTTTAAAACCACAAAAAGTAGAGAAAATGTGTAGACAACTACACATACAACCATCACTTCAACTGAACAGATATGAATGTTTTGCAATATTTTTTCAGGTCCCTTTTTTTAAAAAGAAATAAATTGCTATAGATACAGCTAATTGCCACACATGCTATATTTTTCCCTTCCTTATTCTCCAAAAGCATTTACTATTCTAAAGTTATTATACACCATTTAGTTTAAGAGCTGAAATTGACACTCAGAGATTTGGTTTTTCAATATCGTATTAATCAAGTTCAAGAACCAGAAATTTTTAAGTACCTCTATGTGAATCACTATGCTAGCTTCTAGCTGAAAAGGAAACTTGATTTTGGTTTTCATGCATGTCTAACTATAGGGGAAAAATACCATGATAAAGCTGTAATAGAAATTACTACAAAGGGGTAATTACAGAACATTTCACGGAATAGAGGAATCATTCAATTGAGCCTTGAAGAATGATTAGGATATAATCAGTATAAAAAATGGAAAAGGCATTTCCAAAAATTGACAGCATCAGCCAAGGCCAGAAAACACTTAGTATTTTCTGTTTTAGGAATCACACAGCCTTCGAAGGCTAAAGCGCGGGGAAATTGTGGAAAGTGAAGGAGCAACAGAGAATGCATTGGGACTAATTTGAAAGGGCTACATACACATGCTGTGGTGTTTGTACTTTATCCTATGAGAAAGAGGAGCTGCTAAAAGCATTTGAATAAAAGACTAACATGATCATATTTGTATTTTAGAAAGACAACCCTGGCAACAGTGTGTACAGTATAACAGTGTAAATTAGAAAGGAAAGAACACTTAAGAGGTCATTGTAAAAGTTCAAGAGAGATGATGAAGGTCAGATTTCGAGCTGTGACATGAGACTGGAAAATAAAGGACAAGTGTGCAGTGCATTACAGTGGCCCCTGGAGAGGATTGGGAGATTAATTGTTATGGTCTGAATGTGTGTGTCCCCCCAAAAAAATTCATATGTTGAAACTTAAACCCTAAAAAAATAGTATTAAGGAGTTGGGCCTTTACCTATATTAATTCAATCCTCATAACAACCTATGATGTAGATACTATTTATTCCCCCATTTTATGGATGAGTTAACTGAGCAAAGAAGGATGATATTACATGCCCAACATTACATAGCTGTTAAGTGGTACAGCCGAAATTTAAACCCTAGAATCTGACTTCGGAGGCTGCATGCTTAAACCCCTCACTAAGCTGCCTCTAAGTGAAGAGAGTTGAAACATTAGGATTCAGGTGGCCTTGGCAGGGCAGAGGTGGCAGTGGGGCCACTGACAACAAAGTGTGGGAAACACCTGCTTTCAAGAATAAGTATTTCACTCTTGGTCAGTTCACATGAGAATGACATTAATCTTTATTGCCAAGGATGTGCACAGAAAGATATTTACGCTGCCAGAAGAGTCCTCCAAGCTTAAGCCACAACTAAGAAATTCTTAAATTACAATTAAGAATGCATTGACAGCCATTGATTAGGCTATCACCCTAGTTACTGAGGGAGTTTTCTGGTTAATTACTGTTTACTGAGAGATAATTAGAGACTAGATTACCAAAACACCATCGTGCCCACCTAAAATCTGGACCATTCTGGTCATATATTTATCTGTGTATTCACCTGACACAATATACATAGCCCCAACATGTGCAAATAAATGCAATAATCATAAAAATGTATTAAGGAAAAGGATTGAGGAGCCAAACAGCCACTTTCATTCATACATCAGTGCCTATTTTAAGAAAATATACCAAAAAAATAACAACAAGAAATGATCTGATCTGTCTCCTTCAGTTTCATAATCACATGAAATTCTAGTGTGCTTACTGTACCAAGTTTCATTTGTAGAAACTAATTTTGGTTTTCATTAGGAATTTTCTACAAATATTTAAGATACTGTATTTTCTTTGTAACATTTCTGAAAAATTATCACATTAAATAGTTCCTAAATTAGTCAAGTGTTCTGATGTTTTGTTTTGTTTTTCACTAG
Seq C2 exon
TGGCCCCCCTTCTGCTGTTGACCTGTGACTGTGGGGCAGGTTCTACTGGGGGAGTGACAGGTGGTTTTATCCCAGTTCCTGATGGCTCAGAAGGAACAATTCATCAGTGGGGAATTGAAGGAGCCCATCCTGAAGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134757:ENST00000257189:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.091 A=NA C2=0.277
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
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