HsaINT0052332 @ hg19
Intron Retention
Gene
ENSG00000171587 | DSCAM
Description
Down syndrome cell adhesion molecule [Source:HGNC Symbol;Acc:3039]
Coordinates
chr21:41446964-41450904:-
Coord C1 exon
chr21:41450614-41450904
Coord A exon
chr21:41447141-41450613
Coord C2 exon
chr21:41446964-41447140
Length
3473 bp
Sequences
Splice sites
5' ss Seq
GCAGTAAGC
5' ss Score
5.06
3' ss Seq
CACCGTGGCCCTGCTTTCAGGTA
3' ss Score
9.3
Exon sequences
Seq C1 exon
AGCCCCAGTTCTCAAAGGAGCAGGAGCTGTTTGCCAGCATCAACACCACACGCGTGAGGCTGAACCTCATTGGCTGGAATGATGGCGGCTGCCCCATCACCTCCTTCACACTAGAGTACAGGCCCTTTGGGACCACAGTTTGGACCACAGCTCAGAGGACCTCTCTCTCCAAGTCCTACATCCTGTATGACCTGCAGGAAGCCACCTGGTATGAGCTGCAGATGCGGGTGTGCAACAGTGCGGGCTGCGCGGAGAAGCAGGCCAACTTCGCTACGCTGAACTACGATGGCA
Seq A exon
GTAAGCTGGCTGGCTTTGTGGCTCTCCTGCTTGTGTCTTGGGGGATGTGCACGTGGGCCCTGCCCCTTTCCCATCGAACATCATCTTTGCCATAGTTTGACCAGTGCCCACGGAGCCCATTAGGCTTTCGGGATTCAATGGACTCTGTCTGGGGCTCCCTAGTTCGTTATATCCAGATGACCATCACTGTGTGTCCAGAAATAAGAGACTCAGGGCCATAGGGAGTCTCACTGGGGAGTCATGGGGCAGGAGTGATTTCTCTTAGGGCTGAAGGACTCTTGACCCTGTGGTTCTGTGCTTGTGTTGATGTCTATGAGCTAACATTGCTTTTGTTGTCTCCCACCCCTTTCCCCACCTCATCCCAATCCACATAACAACTTTCTTTTTTGCACTCATTACACCCTAAACTGCATGTGCAAAAACAATTTTCCATGGTAAAGGAGCTTATGTTAGTCTCTGGGCAGGAGCAGGGCCACTGATGGAAATAGGATAATAATAGGAATCCATGAACACGTGCACACACACAAACTCACACACACTTGCCACTTGCATTTACTTTCCAAAAACTAGGTGAGGTGTCTCTTGACATTAGTTAACCAAAAATAAATGGTTTAAAATCTCACTCATTTTTTCTGGTATCAAGGGCCATTTATTGCTAACTGAACAAATGCTAAGCCCAGTGAAGCTGAAAGGAGCGAGTCCTCGACTGCAACTTAGTAGGGGAACTTTAGAAAGTCCCAGCAGCAGCGGGCTGATGCTCATTTCTCACTAGGGGAACAGCAAGGATTGAGTTAGGTGCTCTAATTGCAAGGTAAAAACGGCAGCAATGCATCAGGATGAGTTGGAACTCCAGTGCAACTCTCCTCAGAGCCTTCTATTCACTGCCTGTTGGTCAGGCTAGACCACAGTGTTGAATGAGTTAACCAAGAAACACCCAAACCCTTTATTGACAGCCAAGCCAAGACCACGTTGGAAGTGCTCCTCTACCTGTGGGTGATGCTTTGTGAGGGGATGCCTTTCAATGAAGTCACTCATAACTGAGGGCTGTAAAATTAGACAGAGGCAGCCCATGAAAAGCATCAGCATTGCTCTCTAGGAGAGTGATTCTTTCTTTACTTTGTGCATTTGGGAGGCCGCTTTATTAAAGCTCCAGCAGGTAGCTCCTTGGAGCACAGTTTATGCCATCCTAAGAAGAGTGGCTGTGAACCTAAGGACCCACAGAAATGACCACCAGGAGCTAATGAGGTGACATTGCCTGGGATTTTCATCGGACCAATTTCTCCTATAATGTCCGGATGGCCCAGGGCTGGCTCTTCTTGCTTTGGCACACAGAGCAGACCTACCCCAAATCTCCTGTCCAAGGTCATTTTTCCACAACATCCTTCTCTGCCAGAGTCCAGGGTCTTCCTGGCACTTCTGGCCTGGGTCTCAGGGCTGTAGGAAGACCTTGAGCTTGTAGAAAGCTCTTCTAGTGTTGGTTACGCTAGCCGGGGTCCCTGGCCTCTGCACGGGCTCTGTCCTATGGCCCCAGAATAGCCTATGCCCTCCCAGACGACAACTTTTCTCTTCAAGGGCTGATGCTTTTCATGGGCTGCCTCTTTCTAATTTTATAGCCCTCACTCTTCAGTGACTTCATTCAAAGGTGTCCCCATCACAAAGCATCACCCAGAGGCAGAGGAGCACTTCCAAGCTGGCCTCTCCCTGTAATATGGTTGAATTATTTGATCTTACAAAATAAAGAACTTTGACACTTACCAGACACTTTACTTAGCATTTAAGGGTGCACCAAAATCCTCTGTTAACCAGCACACATTTGAGTAGTAAGTATCTTTTTTACTTTAGATCATTATCTTGCAATATTCACACTCTGGTTCCCAGCTTCTCTATAATATGTGCAGATGCCTGGGCACCCAGCTTAAATGTGCACACTGATGATATGCTCACAGCTAATGATTTAATTAGAAACTACTCATGTGTAGAATTTGAAACTGTGATTCTAATTCACAAAGTGTTCTGCGGATTTTAAATGTTTGTCTTCTAAGAAAAGATATAATTTTCTCACTTTATCCAAGATCCCAAATTTTGAAAAATGCTGCAAGCTACCTTTACGTTTTGGAAATATGAAATCACTTTATTACACTAAGAAATATGGCTGCATATTTATATTTTCCTTGAGAGAGATTACAGATTTCTTTGGACCAGTCTCATGAATGGATAGCCTCTATTGTCACATCTGCCTGAAGAACTTTGTTATCTTGAGAAAGCCAAGATTGGCAGCCTACATTCATACCACTCAGGTTTCAGAGTCCTCCATTTAATGATCTCACTCTTTCTTCTGCCATTTCCTTAGCCGAATGTTTCTGCTTGACCTAGTGTTGTCTTGGTTTTGCAGACCCCTCTTCATGGGCATCCTGTAAGTGCCTCTTTCCTGAATTTCTAAGCATTTGGAGACTTGGGCTTCCACAAAAACACTTTAAAGTTGGGAGAACACTCTTCTCAGCTTTAGCAGAGATCACAGAGGAACGAGGATTCCATTATCCCTGCTCTGCTTACTAAATGCAGGATAAAGACCGTTTTGCTGAGGGAGAAATTATATTATTTTTGCATTCTCTTTTCCTGAAGTGCTGACTTTCTGGCCCTTGTTGTACATGGAAAGTGCAGTGGCGTGGAGCATCTTATATAATGGAGGGTAGCAAAATATATACCTCATAAAAAGTGGATGCCTGTGTTTAGATCTCTGCACCCACGGTACTGAGCATCTGGATAGAAGGCAGCTTAAGATAGCTCAGAGTTCATCTTCCTTCAGTGTTTCCTTATTACTCGAAATAATCTAGATTTTGTAGCACTATTTAACCATGCCTGATCAAAAGTAGGCTCCTTTAGAAACCTAGTTGGGTCCCCTTTGAAAAGCTGTCTGTAGCTCTTGTACCCTCAAACCACAGCTGTTGAAGTAGATTTGGTCTTACACCTGCGATAAAAGCCAGCAAATTACCTAATCACAAGGGATTTGAGTTTCTTTATGCCAGTGTATCTAGGACCCTCTCCCTGCACACGCGCTTCTGTCCATTTGCCCAACCTTTTGTTCATTCTTTGATGTGCAATTTTTTCGAATAGTCTCTATCAATTGTACTGTGGGTGACAGTCAAGGGAACACTTAATTCTGGGTAGATGCATGTGGCTTTTGTCAGCACCAAGCCTGGGCCTCATGCTTTCAAGTGCCTGCACACTGTAGTGCATTGCAAAATGAAGTCCTTTTCAAACGTGCACTATAGAATAAGTTGGAAGTTCAGGCAGAGGGAGGGAAATAAATAAGAAAAAAAGTTAGCCAGGGCCTAGAGACAGAGTTCTTTTCATTTCTCATCACCTCCAACACCCTTGGATCACACAGCGCGATTTTTATAACCTGTCATCCCTAAAAGCTCCGCCATGCCGTCTTCATTAATAGCCATCTAACACCGTGGCCCTGCTTTCAG
Seq C2 exon
GTACAATTCCTCCACTCATTAAGTCAGTTGTCCAAAACGAAGAAGGGCTGACGACCAACGAGGGGCTCAAGATGCTGGTGACCATCTCCTGTATCCTGGTGGGGGTCTTGCTGCTGTTTGTGCTCCTGCTGGTTGTGCGGAGGAGGCGGCGGGAGCAGAGGCTAAAGAGGCTGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000171587-DSCAM:NM_001389:26
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0004116=fn3=WD(100=82.7)
A:
NA
C2:
NO
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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)