HsaINT0052426 @ hg38
Intron Retention
Gene
ENSG00000046604 | DSG2
Description
desmoglein 2 [Source:HGNC Symbol;Acc:HGNC:3049]
Coordinates
chr18:31535270-31536429:+
Coord C1 exon
chr18:31535270-31535412
Coord A exon
chr18:31535413-31536201
Coord C2 exon
chr18:31536202-31536429
Length
789 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
TTTTCTCTCTTATTTTTAAGATT
3' ss Score
11.17
Exon sequences
Seq C1 exon
ATATGTAAAATTAGAAGATAGAGATAATTGGATCTCTGTGGATTCTGTCACATCTGAAATTAAACTTGCAAAACTTCCTGATTTTGAATCTAGATATGTTCAAAATGGCACATACACTGTAAAGATTGTGGCCATATCAGAAG
Seq A exon
GTAAGTTATTAAATAGATCTTTTTCTTGATTATATGTATTTAGATTTTTATTTTCCAACATCAGAAACCATTGATTTGATTGTGTATAAAAACCTAATCTCGGCCGGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCATCTGTAGTCCCAGCTACTCAAGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGAGCGGAGATCGCGCCAGACAAAGGGAGACTCCAACTCAAAAAAAAAAAAACAAAAACAAAAACCTAATCTCACCCCAGCACAGTTGCTTGTGTCTGTAGTCCCAGCTACTCAGGCAACTGAGATGGTTGGAACACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAAAAAAGCAAGACACCATCTTCAAAAAAAAATTGAGGGGTAGATAAAATTTAAAAATAGATGTCTAAAAAAATTTTTTAGTAAGATGAAATAAGCACCTAATTTCTCCAGTAGATAAATCTCACATTTCTACTTGGTAAGTGGATTAAAAGATATTACTTGGTCCAAATTTGAAACATATCTAGGATAGAAAATGTCCTAAGTGGTTAGTACCTTCTCCACTCCAAATTGGCAAGGGAATTCAAACTATGTCTGTTGTCAGCAATAGGAACAGAATGTACATACTTTTTCTCTCTTATTTTTAAG
Seq C2 exon
ATTATCCTAGAAAAACCATCACTGGCACAGTCCTTATCAATGTTGAAGACATCAACGACAACTGTCCCACACTGATAGAGCCTGTGCAGACAATCTGTCACGATGCAGAGTATGTGAATGTTACTGCAGAGGACCTGGATGGACACCCAAACAGTGGCCCTTTCAGTTTCTCCGTCATTGACAAACCACCTGGCATGGCAGAAAAATGGAAAATAGCACGCCAAGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000046604:ENST00000261590:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.013
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=FE(50.5=100)
A:
NA
C2:
PF0002812=Cadherin=PD(15.8=19.5)
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:
TGGATCTCTGTGGATTCTGTCAC
R:
TTCTTGGCGTGCTATTTTCCA
Band lengths:
342-1131
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