HsaINT0052286 @ hg19
Intron Retention
Gene
ENSG00000134755 | DSC2
Description
desmocollin 2 [Source:HGNC Symbol;Acc:3036]
Coordinates
chr18:28648265-28649117:-
Coord C1 exon
chr18:28648860-28649117
Coord A exon
chr18:28648311-28648859
Coord C2 exon
chr18:28648265-28648310
Length
549 bp
Sequences
Splice sites
5' ss Seq
GAAGTGAGT
5' ss Score
7.97
3' ss Seq
TGTGCATTTTTTATGTATAGGAA
3' ss Score
7.77
Exon sequences
Seq C1 exon
TATTCTGCGAATGGCTTCACAACCCAAACTGTGGGCGCTTCTGCTCAGGGAGTTTGTGGCACCGTGGGATCAGGAATCAAAAACGGAGGTCAGGAGACCATCGAAATGGTGAAAGGAGGACACCAGACCTCGGAATCCTGCCGGGGGGCTGGCCACCATCACACCCTGGACTCCTGCAGGGGAGGACACACGGAGGTGGACAACTGCAGATACACTTACTCGGAGTGGCACAGTTTTACTCAGCCCCGTCTTGGTGAA
Seq A exon
GTGAGTTTTCCTAAGTGGCCTACAAATCTATTTTAATTTTCTTTAAACTTTATAAATAACTAACTGGATTCTGACTATAATTTTCAATTAATTATGAATCTACTAATTCTACTAATTGAAAGCTATTATTTTTCCTCAATTTTAATTTAGTTATGTTCAGATTTAAGTGGTTATTTACTTCCCCTCCTATTTTTTTAATTGAAAGAATTACTAAATAATGTGTGATGAGATTTAAATTACTGTCTCATGGCTTTGTGCTAATATTTCCCATCTGACAACTTGTACCTTAGAAACCAAAAATGTGGTACCAGCAAGACCAGCATGTACTATCACTATGTCTATCTGGGAAGAACTGAGCCCATATCAATTTGTCTTCAGTTTAATGGATGCATGTCACTTTCAGCTAAAATTTTGAAAGGGAAAGTAGTGACTATGTAAAATGAACACCTGTATACTTGCTGCCACATGCGTGACTTTTAGAAACATGCTATACTGAATTTATAGTGTGATGTATGAAACAGACCAATCATGTGCATTTTTTATGTATAG
Seq C2 exon
GAATCCATTAGAGGACACACTCTGATTAAAAATTAAACAATGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134755-DSC2:NM_004949:15
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.200 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0104912=Cadherin_C=PU(47.2=68.6)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTCTGCGAATGGCTTCACAAC
R:
TTAATCAGAGTGTGTCCTCTAATGGA
Band lengths:
286-835
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)