HsaINT0052267 @ hg19
Intron Retention
Gene
ENSG00000134765 | DSC1
Description
desmocollin 1 [Source:HGNC Symbol;Acc:3035]
Coordinates
chr18:28714535-28719853:-
Coord C1 exon
chr18:28719711-28719853
Coord A exon
chr18:28714748-28719710
Coord C2 exon
chr18:28714535-28714747
Length
4963 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
CTATTTTTAATTAATCTTAGTTG
3' ss Score
5.11
Exon sequences
Seq C1 exon
GTATCAGAAGTTAGGGGATGAAGATAACTGGTTTGAAATTAATCAACACACTGGCGACTTGAGAACTCTAAAAGTACTAGATAGAGAATCCAAATTTGTAAAAAACAACCAATACAATATTTCAGTTGTTGCAGTGGATGCAG
Seq A exon
GTGAGTGCCATTTTCTACAGATAAAATATAAATATATGACATGTTTTTAAGGAAACCTTGTGGTGAAATCTGTTTATTTCTAGACAAAACATAATTCAAGCAATGTTTGCATTTTTATTGTTCATGTTATTGGATATCACCCAGTTTAGGCTTCAGTGCATCTATAATGCAAAGCTATGAGGTAGTGAATGGCCAAAGCTTAAGGCTTAATTATATCACAATAAATTTAAATGTAATTACATCACAATTAAAATTAAGGTCTAAGGATTCAAAGATGATCTATATATTATTAATTTCTGCTGAGGAAATGGTGGCATACTCAAGGATCACCGTTTTTTTTCAGAAGTACAGGTTTAGATACATTATGATTTGAGCTTGCTGAAAGGGTTCAACACACCTAAAACAGTTGGGTTCAAAGTAAGTTTGTTCTGAGCTTCTCTTAATGGAGAACAAATCATTTATCCTATTTTATAAAGCAATGGTCAAACAATGACTTAAGTCTTTTATGGTGATTTGCAATCTTTTACCAAGGTCAATTTTAGAATCAATTCTGTAAAGAATGTCCTCCAAATATAGTAAAGTAGTGATCTGGAAATTCTTTTGAACATACAAATTTCTATCAGTAAACCACTTGTTAGTATGTTTAAATATATATTTATAAATATGTTTTTAAATATTTGCTATCATATGTATTTTTATATACATGTACTATTATACTAATGTATACATCATAAAAATATACAAAACATATTAAAAGAGGATGATAAAAATATAAGTAGAAGCTACACTCTTCCATTTTATCATATTGATGACAAATTTACCATAAATTTTGGCAAATTGCCATAAATAATAAAGATAAATGAACTTGGGCTTTTATAACATAGCCTATTCGTTTGACTACCTGCCTAATCCAAGAAGGTTTCCACTCTTTTTACATGCATATGCTGGATGTTCAAAACAAACTAGCTGATACAATGCTATGGGTTTTTTTTTCCTGTGTCTATTGCATTTCTTTAGAAGGAATGGTTGACTGTATTAATAAATACATATGAAATTCCATGGTAATTAATATAAGTTGGTAGTAGTGAAAATGTTCATGCTTATTTATTTGTCCCTTTGTTTTTTTTTTTAATAACAAAATGCAAACAATGTGTTCTCAGATATTATACCCCTACTTTTTTCTATGTTGGCAAAGAAGACTTTATGTTTACTCATTTATTCCCCAACTGGTGGTTTGTCTATTAAGTTCTAAGTATTAGACAAGCTGACATGGAAATTAAGAATGTTAAGATAAGGCCAAATTCTTACACGATATCAACTATAGAATTATTATAGTTTCACAAGAGATTCTATGATGTGAGAACTTTCCTCAAAAAGAATGTATGAATATTATCAGAAGTGGCGATCAGTTAAGACCTGCTCAGATTAAGGATGAAAGAGAAGAGATTACAGAAATGCAGAGGCCTAATTTTTTAAAAATAAAATGCTATCTGGAGAGGAGAAAATTATGGAGAACAAAGTATTTAAAAAGTAACTTTGTTTTTTGGTGCTAAAAGACAAAGTCTGTAAGCACAGTGAATGTAGTGTAGAAAATAAAAAGCAAACTTTAACAAATCTACATTCCAGGGCCGTAGATAACCTGGGTGTGTTTAATAAAAAAGTAAAGATAAGGATGTTACACATTTTAGTGAAAAACCATATAGTGATATGATGGATTTTGTTTCTTTGAACTTTAATCCACACACACACACACACACACACACACACACACACACACACACATTTTGCTCTGATGCTCATGATTATTCCTGGATGATGATCTAGGTATTCTACCTGTCTTAGAATCCAACTTTCTTTCTTGTGTCAATCCTCTGTCAGTCTGGCTGATGTCCCTGCTGTCAGTCGAGAAAGCATTGTTTTACATACCTTCCACCTAGAGTAGCATTGCTCCTCCTGTCTGAAATTCAGGCCCCTTAACTTCTTCAAATAAATGGCAATGACAAGGTTTGTGATTGTTTCCATTAGTCTGGATTCAGTTCTTCTCTAAATACCTTTTGAACTGGGGATAACAATTATCATATATGGTGTGGCTTCTGTAGAAAAGGCTGCTTTCATTGTTTCTCATGTATATTCTGTTCTCCTAACAAGCTTAATTATGAGTTCAATTTTGTATAAAGACCCTTTTTCTTTGTAAATCGTCCCTTTCCAAGTATCTGGCAGAAAATGTGGTATACATATGCACAGTGCAGGTGCTGATATTTGTCATTCCTTTGTTGTTTGAGAGTCCTATGAATCTCCACGTTATACATTTCACTGCAAAAAGCTTTACAATTCTAGGGACATAATTAGCACTTGGGAAAACTGATTTTAATGTAGAAAATTGAGATTAAACATTTATTAAGTGCTTCTTTATTTTTCCCTTCTGTAAGAAGGATTTTCTTAAGAGAACAAATATTTAAGGGTTGTCATGTACAAGTGGCAAACATTTTGCATGTATAGTCCAAAAAGAACATGAACAAATTACAGGAAATCATTAGGAGGCATATTGTAGCTTAATAATTAAAAATTTAAATCTTTTAACAATTAATTTTAAAATTTATAGAGTAGGCTGATTTATAATACAGTGATTCTAGTTACTGAAACATTTGAGTAGCAATAAAAAACGACTGCTTTCCAGAATTGCTGTTGAAGTATTATGAAGATTTTTAGTTAACCCAAGATGTACTTTCTAGCTCTGTGATTGGTGTTTCTTACTCATTTATACTTGATGTTTGCTTATGTGCTTAATTTAAAGTAAATTTTAGAAGTAAATAAACACACCAATGACTTCATCATGCTCAGCTATTATCAGTAATTACTTATTTTTGGCTGTTTACCTCTTCCCAGGGGTAAAATAAAAACTTACCATCAACCTCTTGTAATTTTTGATATCTTCTAAGACAAGCTTGTCCAACCTGTGGCCTGCAGGCAGCATGCAGCCCAGCGTGGCTTTGAATGTGGCCCAACAAAAATTCATAAACTTTCTTGAAACATTATAAGATTTGTTTGCAACATATATTTTTTAGCTCATCAGCTATCATTGGTGTTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTGTTTTCAGTGTGGCCCAGGGAAGCCAAAAGATTGGACACCCCTGTTCTAAGACCTTCTCAGCTTTGTCTTTGATTGCCTTCCATTTAAATCATTTCAAGCATCTTTCATCTGTTTTTATCAACATGCTTAAAGCAGAGACTGTAATAGAAAATAGTAAGTTATGGGATAAATGTTGGTTGAATATGTGATTAAATAAATCTTGATTTGCGTTACTATAATTACCACTTTTTTTGGATTTTTAAAGTGTGTTTTCTTACGATTTTTCTATAAAGAGAAAGGCTTTCTGCTTAAATTTTAAAAGGTGAAATTATAGTATATATATCAACTCATGTGTAGTGTATGCAACTAAATTTTTTACTTTATAAGGCCTCTTTTTCATATTATTCATTTCTTAGTTTGCTGATTTTAAAGTTATTACTTATATTCAACTTTATTTGCTATTTTCTGGCAGTCTCAAAGTATTTATATGCTATTGCAAATTTCTTCAACAAATAGCTATATCTCTCTTTTATTTCTGGATATTTTTAAATTTGTTCAGGTAGTTTTAAAATAGGCATAAATAGTAGTTACTTTATACAAACAATTAGTTTAAAAGTCACTGAATAAATTAATTTTGTAGTTATTCAACAGAAAAAATTCTTTTGAAATACACTACATGATATGACTTAGGGTTATTTCAAATTAAAAAGAAAAATAAATTATATTTGCATGGGAGTTATAGTAGTCTTTATGATAAATTCAACATACATGTTTCAAAATGTGGACCAGTATTTAAAGCAAAAACATGAAAAATTACATCAATTACCTTTCTGTTTATTTCAATTTTGATATCTTATCATTTATTGTAGTTTATTATCCTTTTACAAATGGTGGGATTTGACATGTTTCTGAACTTCATTATCTCTTAAACACAAATAATGGGCACTATTTTAACTAAAAATACTATGTGTGAAGTCTTAGGCCAATAATAGTGGCAATCAACAGATGAGTACGAGACAGTTCCTGTTGTCAAGAACATATGAATTGCATTAGGGTAGAGATGAAAACTTATTTTTCTGGCTTATTCAATTAAATGTTTTCAAGTATAAAAATAGGAACTGCATTATGTTCAATGTGTCAGTATTAAGTTATAGTTAGCTGGGAAATACTGGGCAAATCACTAGGCTCTCAAGGTGAATACAACTTACTATGCTACTTTTGCAGTTCAGTGTGTGAGCCAAAGTATTAGCAAAGAGTTCTGAGAAAGCACTGGAATATGGCTACCATTGTCTGTGGAAGTCACGAGTTTCATGAGGACGTGACATTTAAGTAGATTCTTGAAGATAATAGTGTGCTATCTGGCAAAGAAGAGGAGAAAAGTATTCCTAGGAGTGGCAACCGAATGCTACAAAGCAGACAGGAAGGGGAACACTTAGTGCATTTCTAGAGAAGTTTTCAAGGTTTGGGAAAAAAGTATATGATGCAATGGAGAAGCTGAGAAAGTGACTGACAACCAAATGTAAAGTGTTTGTATTCTAAGGATGAATATATGCGCTTCATAAAGAAGGATGTAAGACATCTGTTTTATTTTCAACAGGTCATTCTGTAGTGACCTTCCTCATAATCTCATACCTTTTAGTTTTGAAAAGCATCTGAAGAAATTATCTGATCCAGCCCTAGTCTTCAAAGAAAAGTGACATGTCCCTATTTTGTAGTCTTGGTGTCTGAAATCTGGGAAGCATGTATGCGAACTCAAGCTCAGACAGCTAGTAGAAAGCAGATGTCAACTGTGTATTTTATAAATTGTTGAAAATAAATGCATTTTCATGTGAAGAAATAACCTATTTTTAATTAATCTTAG
Seq C2 exon
TTGGCCGATCTTGCACTGGAACATTAGTAGTTCATTTGGATGATTACAACGATCACGCACCTCAAATTGACAAAGAAGTGACCATTTGTCAGAATAATGAGGATTTTGCTGTTCTGAAACCTGTAGATCCAGATGGACCTGAAAATGGACCACCTTTTCAATTCTTTCTGGATAATTCTGCCAGTAAAAACTGGAACATAGAAGAAAAGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134765-DSC1:NM_024421:11
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.020 A=NA C2=0.139
Domain overlap (PFAM):
C1:
PF0002812=Cadherin=FE(51.6=100)
A:
NA
C2:
PF0002812=Cadherin=PD(14.0=18.1),PF0002812=Cadherin=PU(54.0=65.3)
Main Inclusion Isoform:
NA
Other Inclusion 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)