HsaINT0052435 @ hg38
Intron Retention
Gene
ENSG00000046604 | DSG2
Description
desmoglein 2 [Source:HGNC Symbol;Acc:HGNC:3049]
Coordinates
chr18:31522083-31524585:+
Coord C1 exon
chr18:31522083-31522249
Coord A exon
chr18:31522250-31524447
Coord C2 exon
chr18:31524448-31524585
Length
2198 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
3' ss Seq
CATTTTTCATTGCTCTGCAGGAA
3' ss Score
9.62
Exon sequences
Seq C1 exon
ATACTCTTGTGATGAAAATCAATGCAACAGATGCAGATGAGCCCAATACCCTGAATTCGAAAATTTCCTATAGAATCGTATCTCTGGAGCCTGCTTATCCTCCAGTGTTCTACCTAAATAAAGATACAGGAGAGATTTATACAACCAGTGTTACCTTGGACAGAGAG
Seq A exon
GTAAGTTAATATGTTATGTTGCCCATCTTTAAACTCTCTATCCTTTCCAGTTTCTCCTCTCTTTTTCTTTTCTAATTTTCTTATTTTGTTCTGTATTCCTTATCCATAGGATAACTCTTGGAATTACTCTCTTTTAGGGATGTGCTGTCCAATATGGGCCATGTGACTATTGAGCACTTAAAATGTGACTGGCCCAAATTGTAATGTGCTGTATGCACGTTGAATGTGTAATATATGCACCAGATTTGAAAAACTTAATATGAAAAATGCAAAATATGACCTTAATGTTTTTTGTGATCATTGCATGTTAAAATAATATTTTAGATATCATAGATTAAATAAAATATACTTGTTTAAAATTGTTATCATGTGTTTCTTTTTAAAATGTGGCTACTAGAAGATTTAAAATTACATAAAAACAGCACCATTCTAGGGCCTCTCCTATCAGGGTTCTGTTTACTAGAGGTTCCTAAAACATTTCTCAGTTTGCAGTTCTCTAATGAAACATTAGGAGGCTCCTCCACGGCTAGTACGTAGGAGGCAGTGAGGAAAGGGATGAAAATAGGAATCCTAGTTAGAGAATAAAAGTATCTGTAAAGGAGAGAATTACTCTAAATCCCAAATTGAAGGAAAGTTTGAGTAGGTTTACTAGGAAGGCATTTCTCTCGAACATTTCACTTTATTATTTCTAACTGAAAGGGAAATTTTTAAATAAAAAGGGGAGATAGAAGATTTTTTAAATGCTGTATACATAAAGGTTTTAACAGCGTACAAGAGTAAAATGTGGTTGATCATAAAGTACACTCTTTGTCATCAGATATAAATCATCATCCAAGTGCACTACGTTCAGTATTTCTTAGAGAAATGATTGGCCGGGCGTGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAATATACAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGGGACAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATATCCAAAAAAAAGAAAAGAAACATGATTTAATTCTGCCCAAATTGGAAGGACTGTGCCTAACAGGCTTAAGGGAATGTTTATAAAATTAAAGAATATGATTACACCTAAAATTCTACTCTATACCTTTTCACATAAAACTAGAATGGAAAAGTGTTACTTTGCATTAGTAGTGTGATTTTAAACAAGCTGCTATTTCTAAAGGACGGAAAGTTTAGCCAATAATAATGGCTGTTAACTTACTGGGCATTTACCTTCTGCCAGGTACTGTTCTAAGCCTTTTTATGGATTAACCTATTTAATCCACATAGAAACCCTGTGAGGCAGATTCACTTATTATCCTCATCTTACACATAAAGAACCCGAAGGTCAAAGCGAATAAGTGCATGTCCAACACAGTCAGTAAGTGACGATGCCAGAATTGGAACCCAGGCAGATGGCTCCAGGGTCCTGGTGTCCTGCTGTGCACTGAGTGGTTCTGCCCTATGCAGGACCCCAAGCACTGGCACTACCTGCCCTCCTAAATTCCAGCCACGCTGAACAGAACCATAGTAAGGGGACCTCATGGAAGAGAAGAAGTGACATCTGAGAAGCCGTTCTCTAGGACACATACTATAAGAATCAAATCTCTGGGGAATTCTGGACAAAGTTCACCCAGTTTTGCCTTCACTAACCAAGTTTATTTAGGACCAGCTTCTCCTCACTGAGAATGAAGTGCAGGACAGAAAGAACCAATTCCTACAGTTCCACCTCACTTTCAGTAGAGAATAAGCTACATTTTCAATAGTGGCTCCTTTGTGCAGACTATCTCCTGATAATATCACCAATGACTTATTGAAGAATTTGACTATCTACAACTCCCGAGGCTTTTCTGTTCTTCTGCAAAAGCTCTGACTGCAAGTAAATAGTATCTTCACACAAATAATAGCAGATCATAAAACAGATTTGTAAATAAAATATACTGTGGTACGTGATAAACTGGACTAAAACCAGAAAGCCAGATGTAAGAGTGACTCTTTTCACCCAGCTGGACATTTTTCATTGCTCTGCAG
Seq C2 exon
GAACACAGCAGCTACACTTTGACAGTAGAAGCAAGAGATGGCAATGGAGAAGTTACAGACAAACCTGTAAAACAAGCTCAAGTTCAGATTCGTATTTTGGATGTCAATGACAATATACCTGTAGTAGAAAATAAAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000046604:ENST00000261590:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.061 A=NA C2=0.370
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=PD(82.6=96.6)
A:
NA
C2:
PF0002812=Cadherin=PD(32.0=69.6)
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