HsaINT0052317 @ hg19
Intron Retention
Gene
ENSG00000171587 | DSCAM
Description
Down syndrome cell adhesion molecule [Source:HGNC Symbol;Acc:3039]
Coordinates
chr21:41559818-41561165:-
Coord C1 exon
chr21:41560969-41561165
Coord A exon
chr21:41559915-41560968
Coord C2 exon
chr21:41559818-41559914
Length
1054 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
3' ss Seq
TCTTTCTGCTTTACACATAGATT
3' ss Score
7.69
Exon sequences
Seq C1 exon
TTCCTGCGATGATAACATCCTATCCAAATACTACCCTGGCCACGCAGGGGCAGAAAAAGGAGATGAGCTGCACGGCGCATGGTGAGAAGCCCATTATAGTCCGCTGGGAGAAGGAGGACCGAATCATTAACCCTGAGATGGCCCGTTATCTTGTGTCCACCAAGGAGGTGGGAGAAGAGGTGATTTCTACTCTGCAG
Seq A exon
GTAAAAGCATGGCAAATACAACACAATGGAATGAACTTTATTGGAAGAATAAGTCTTTCCTTTCACAGAAGCGGGTGCAGATAAGTAGCAGATAATCTTTCGGAATTTATTTACGAAGCACTATTTCTCTCCCCTTTCACACAGCGAGATTAGTGAAGTAGCCTTCAAAAATAGTGCTTCAGCCTAAGTGTTATTAAGAATAGGGTTATTATGAACGCAGCAGGGAACCCAAATGTAGTAAAAAAAAAAAAAAAAAGTGAGAAATAAGGTTTTTAAATGACAGTTAATCCTTCAGGAATGATGGCCTATGCTGTGTGCATGTTTTAACTTCCTGCAAAAAGAAAAATGAGATGGGCTTTGGGACAAAAATATTATCATAAAAACTATCTTGCTTCTTTGGAAAAATCCACAATAAAAAAAAAATCTGTCGTTAAAAGAGGATCACAAAAGCTAGAGAAAAGGACTGTGAGCAGTGAACTGGTTTGTGCTGTTGTCATGCGGTTGGAGGATGATACTGTAGCACACACAGGGTGGGGAGGTGGGGAAGCCCTGTGTTTGAAATGCTTATATTGGCTCTCAGACAAGGGTCCATTCCTGGAATCCTCCTAGAAAAGGAATCTGATGCGAGTCTTGCGGGCCCCCAGCCCTGCCTGCAGTATTTAATCTGTCTCTTTAGGCATGGTTGCTTTGGATACCATGAAAAAAAAAATGTATATGTGGGATATATGTCAAGCTGACCACGACATCTTATATAAATTACACATCCAATTTAATGAGCTACACCTGACATGGATAATGTACGTGAATCCTATCCATCCGCCTACTTTCAATTACACTGAAATAATTTGTCCTCAGAGGGATACGTGCATGTGTGTGATTTAGTATGTGAGTCTGGAGGAATGGGGGTTTTGTGAGTGTGTGTGTGTGTGTGTGAGTGTACCTATGTGTGTGCTTGGCATGGCAGGAGAACTGAAAGAGTGGAGAGAGAGAGCTTTACGGCTCAAAGTCATTTTGCCTACTGAAAAAGATGAATTTCTTTCTGCTTTACACATAG
Seq C2 exon
ATTTTGCCAACTGTGAGAGAAGATTCTGGTTTCTTTTCCTGCCATGCTATTAATTCTTATGGGGAGGACCGTGGAATAATTCAGCTCACAGTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000171587-DSCAM:NM_001389:12
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.061 A=NA C2=0.212
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(66.3=95.5)
A:
NA
C2:
PF0767911=I-set=PD(31.6=90.9)
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:
CATCCTATCCAAATACTACCCTGGC
R:
TTGCACTGTGAGCTGAATTATTCC
Band lengths:
278-1332
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)