HsaINT0052271 @ hg19
Intron Retention
Gene
ENSG00000134765 | DSC1
Description
desmocollin 1 [Source:HGNC Symbol;Acc:3035]
Coordinates
chr18:28709214-28711805:-
Coord C1 exon
chr18:28711557-28711805
Coord A exon
chr18:28710675-28711556
Coord C2 exon
chr18:28709214-28710674
Length
882 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
3' ss Seq
TGTGCTCTTTTTTGATACAGAAG
3' ss Score
7.77
Exon sequences
Seq C1 exon
GAAGCAAATATTAGACTCCCCATGCAGACATCCAACATTTGTGACACAAGCATGTCTGTTGGTACTGTTGGTGGCCAGGGAATCAAAACACAGCAAAGTTTTGAGATGGTCAAAGGAGGCTACACTTTGGATTCCAACAAAGGAGGTGGACATCAGACCTTGGAGTCCGTCAAGGGAGTGGGGCAGGGAGATACTGGCAGATATGCGTACACGGACTGGCAGAGTTTCACCCAACCTCGGCTTGGCGAA
Seq A exon
GTAAGTTCCACTGTCTTTGAGGTCATATTACATGGAAGTTAAATGCTAGTTATAAATCAGAATTTCCCAAAAGTTTTACTCCTCATATACCTGGAATTCAACATCTTTTACCTGTTGGATTATCATAGATGTGGATGTCTGGTTTAAACCCAAAGATAAAAATGATCTTTGAAAATTCACCTTTGAAAATACAGTTTACAAAACTTTATCTAGGAGTGCCATATGTAGATGTGTTTACAAAGGATAAAAGGTTCATAGCCTCTTCCCTAGAAATTAACAGGAAAACCAGCTGGAGTGAAATATTTATTATACAGGAATGAATGGATCATAAATTATAAACATTTCTCAGTGTGCTTGAGTTCTTTGTGTGGTTATGAAGTCCTGGCTATCAAAATCAACCAGATAAATTGTTGAGCTTTTATTTTGAGTTTTAGTTCCTTGTTTTGTTTTATGTTCAGATTAATCAGTATAGGTTTGATATTAGCCAGTTTAATATATTACACTATCACAGTTATATAGTAGTGTATAAACATAGGAATCATAGCCTATATTGGTTTTCCTCAAATACGTGAAGAAGCTACAAAGGTAAATTTCAAATATACATGTTTTGTGTTCAAATGGGAAATTATAAATGTGTTGCGTGATATATGCGTAGTCTTAATTTTTTAAATGTGCTCACTAGAAGCATTTATTTATTTGCTATATTTTAAGAGTGACTATAATACAGACCAATCCTGTGCATTTTTTATATATAGGAATCCATTAGAGGACACACTCTGATTAAAAATTAAACAGTAAAAGGTAAATCAAAGACATCATTTTTCTGCTAATATGTTTAGGTGTTTTTTAAAAAATAATAAAATGTGCTCTTTTTTGATACAG
Seq C2 exon
AAGGTGTATTTGTGTGGACAAGATGAGGAGCATAAACATTGTGAAGACTACGTTTGTTCGTATAACTATGAAGGCAAAGGTTCTCTGGCCGGCTCAGTAGGTTGCTGCAGCGATCGGCAGGAAGAAGAGGGACTGGAGTTTCTAGATCACCTGGAACCCAAATTTAGGACATTAGCAAAGACATGCATCAAGAAATAAATGTGCCTTTTAATAGTGTAATATCCACAGATGCATAAGTAGGAATTTATTACTTGCAGAATGTTAGCAGCATCTGCTAATGTTTTTGTTTATGGAGGTAAACTTTGTCATGTATAGGTAAGGGTACTATAAATATGAGATTCCCCTACATTCTCCTTGTCTGGTATAACTTCCATGTTCTCTAGAAATCAAGGTTTTGTTTGTTAATTCTCTTTTATATGCATGTATATATTGCCCTTTTCACGACTGTACTGTACACCTTCTTGCACCTTTTATTTGCAAACTGATGTTACTTTTTGTGCTGTGGAAGAGCATTTGGGAAAGCTGGGTATTATAGAGGCCAATGAAAGATGAATTTGCATTGTAGATGTACGAATTAAATATGTTCTTCAAAATCTTGGGGAGAATTATGTTCTTAGAACATAGTTGGTGCCAGATAATTGCATTCTCTCCACCTGAGTGGTTTAAAAAGGACTTTTAAGTATTCTTCAGTGCAATCTTCAGTTTTGTGATTAAGTTCATTTCTCTTTTACACTTTTGTACTCCTCAGAGCAGTGCTCCCAGCATTGTTTTCTTTCAGGATCCTTCAGAGCTCAGTCCCTGGACCTCTGCCCATGTGGATTTGTTGTTAGGTCACTCCAACTTCTAGGGTTCTTGGAAAGATAAGGACCAGAACAAGCTCATAGCAAATTGAGGGGCAGAGATTTTATGAAGATTACATGAGAAGATTTCCATGAAAGAATTGCAGCCCTGAGGTCCATGGGTTGACTTATGCTCACAAATATGTTTCGTTTGCTCAACATGGTTTACTACTAACATTTTAAAAATATAAATACTTTAGCAAAAACATTCACTCTTGAGTTTGACATAGGCCTGCCTTATCTGTGGTTGCCACCTGCCATCTCCAAGCATTTGGACAACTAGCCCTGATGCATTAGGCTGCAACTCTGATATACAGAGACTAGCACCTTGAATATGCCAGAAATTGAATTACCATCTGTATTAGAACTTAAGACTCAGCCTAAATTTACAGTTACTTTAAGAAAATGGGCAGTCAGAATTAGGGACTAGAATGTATATGAGAAACCCCCACTCTACTAAAAATATAAGAAATTAGCCGGACATGGTGGCGAATGACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134765-DSC1:NM_024421:15
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.173 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0104912=Cadherin_C=FE(46.1=100)
A:
NA
C2:
PF0104912=Cadherin_C=PD(36.0=97.0)
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:
CTCCCCATGCAGACATCCAAC
R:
GATCGCTGCAGCAACCTACTG
Band lengths:
349-1231
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
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)