HsaINT0052318 @ hg38
Intron Retention
Gene
ENSG00000171587 | DSCAM
Description
DS cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:3039]
Coordinates
chr21:40187131-40187987:-
Coord C1 exon
chr21:40187891-40187987
Coord A exon
chr21:40187260-40187890
Coord C2 exon
chr21:40187131-40187259
Length
631 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
TCTTTCTGTTGATGGCACAGAGC
3' ss Score
5.05
Exon sequences
Seq C1 exon
ATTTTGCCAACTGTGAGAGAAGATTCTGGTTTCTTTTCCTGCCATGCTATTAATTCTTATGGGGAGGACCGTGGAATAATTCAGCTCACAGTGCAAG
Seq A exon
GTAGGAAGACGATAGCGTAAGAGAATAAACACAGTCATTTCAGGATGGGAGCTGTATGCTCAGCCTCAGGCATCTCTGTGTCCTCAACTTGCCATGTAACACTTCCTAATTCCCAGGAAATTTTGAATATGTATAATGTCAGTGCTAAAGCAGAATTTTGCAGTGCCTGGGATTATGTCAAAGTAAAGCCCCCAAACAGGGAACGAAGCCCTTAGAGGAACCAGTCAAGATGACAAGCCCATGACAGTCAAGCCACATGCACACAAGTACAGCGGTGGAATTTCTTTGCTCAATTTTAGGAATCCATGTACTAGATGACCAGAATGAAAGGGAAGTTTAACATTTGGGGCCAAAATATGTTTTGAGTTAGAGATCCAAACTAGAATCGTGACATTTTATATCCTCCAGGCTTGGTCCAGTTCTTAAGGGCTATGAAAATTGGAAGTCTTGGGAAAGTGGAATTTCTCTTCCCTAAAATGTGATTAGGAAAAAGAAAATGCTTCCAAATAAAAAGCTTCTGTTCTTGTCTAATGCAGACAAATCGTTTGTGAGTCACGCTCAGCATTTCCACTAGCGTTTTATGTCAGAGCTCTGTTTGAACTAACTCGTAGTCTTTCTGTTGATGGCACAG
Seq C2 exon
AGCCCCCAGACCCTCCCGAAATTGAGATCAAAGATGTCAAAGCACGCACAATTACGCTCAGGTGGACCATGGGGTTTGATGGAAACAGTCCCATCACAGGCTACGATATTGAATGCAAAAATAAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000171587:ENST00000400454:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.212 A=NA C2=0.382
Domain overlap (PFAM):
C1:
PF0767911=I-set=PD(31.6=90.9)
A:
NA
C2:
PF0004116=fn3=PU(47.1=93.2)
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:
TTTTGCCAACTGTGAGAGAAGA
R:
TTGCATTCAATATCGTAGCCTGTGA
Band lengths:
214-845
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