HsaINT0052435 @ hg19
Intron Retention
Gene
ENSG00000046604 | DSG2
Description
desmoglein 2 [Source:HGNC Symbol;Acc:3049]
Coordinates
chr18:29102046-29104548:+
Coord C1 exon
chr18:29102046-29102212
Coord A exon
chr18:29102213-29104410
Coord C2 exon
chr18:29104411-29104548
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-DSG2:NM_001943:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.071 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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)