HsaINT0052271 @ hg38
Intron Retention
Gene
ENSG00000134765 | DSC1
Description
desmocollin 1 [Source:HGNC Symbol;Acc:HGNC:3035]
Coordinates
chr18:31130793-31131842:-
Coord C1 exon
chr18:31131594-31131842
Coord A exon
chr18:31130839-31131593
Coord C2 exon
chr18:31130793-31130838
Length
755 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
3' ss Seq
TGTGCATTTTTTATATATAGGAA
3' ss Score
8.45
Exon sequences
Seq C1 exon
GAAGCAAATATTAGACTCCCCATGCAGACATCCAACATTTGTGACACAAGCATGTCTGTTGGTACTGTTGGTGGCCAGGGAATCAAAACACAGCAAAGTTTTGAGATGGTCAAAGGAGGCTACACTTTGGATTCCAACAAAGGAGGTGGACATCAGACCTTGGAGTCCGTCAAGGGAGTGGGGCAGGGAGATACTGGCAGATATGCGTACACGGACTGGCAGAGTTTCACCCAACCTCGGCTTGGCGAA
Seq A exon
GTAAGTTCCACTGTCTTTGAGGTCATATTACATGGAAGTTAAATGCTAGTTATAAATCAGAATTTCCCAAAAGTTTTACTCCTCATATACCTGGAATTCAACATCTTTTACCTGTTGGATTATCATAGATGTGGATGTCTGGTTTAAACCCAAAGATAAAAATGATCTTTGAAAATTCACCTTTGAAAATACAGTTTACAAAACTTTATCTAGGAGTGCCATATGTAGATGTGTTTACAAAGGATAAAAGGTTCATAGCCTCTTCCCTAGAAATTAACAGGAAAACCAGCTGGAGTGAAATATTTATTATACAGGAATGAATGGATCATAAATTATAAACATTTCTCAGTGTGCTTGAGTTCTTTGTGTGGTTATGAAGTCCTGGCTATCAAAATCAACCAGATAAATTGTTGAGCTTTTATTTTGAGTTTTAGTTCCTTGTTTTGTTTTATGTTCAGATTAATCAGTATAGGTTTGATATTAGCCAGTTTAATATATTACACTATCACAGTTATATAGTAGTGTATAAACATAGGAATCATAGCCTATATTGGTTTTCCTCAAATACGTGAAGAAGCTACAAAGGTAAATTTCAAATATACATGTTTTGTGTTCAAATGGGAAATTATAAATGTGTTGCGTGATATATGCGTAGTCTTAATTTTTTAAATGTGCTCACTAGAAGCATTTATTTATTTGCTATATTTTAAGAGTGACTATAATACAGACCAATCCTGTGCATTTTTTATATATAG
Seq C2 exon
GAATCCATTAGAGGACACACTCTGATTAAAAATTAAACAGTAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134765:ENST00000257197:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.173 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0104912=Cadherin_C=FE(46.1=100)
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:
GAAGCAAATATTAGACTCCCCATGC
R:
TTAATCAGAGTGTGTCCTCTAATGGA
Band lengths:
278-1033
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development