HsaALTD0002045-2/2 @ hg19
Alternative 5'ss
Gene
ENSG00000198054 | DSCR8
Description
Down syndrome critical region gene 8 [Source:HGNC Symbol;Acc:16707]
Coordinates
chr21:39494406-39528605:+
Coord C1 exon
chr21:39494406-39494505
Coord A exon
chr21:39494506-39494762
Coord C2 exon
chr21:39528398-39528605
Length
257 bp
Sequences
Splice sites
5' ss Seq
ACGGTAATA
5' ss Score
6.25
3' ss Seq
CTTCTTGTTTTGTTTTTCAGACA
3' ss Score
10.47
Exon sequences
Seq C1 exon
CTTCATCTTGCTGAGCAAAAATGAAGGAGCCTGGACCCAACTTTGTTACTGTGAGAAAGGGTCTTCATTCATTCAAGATGGCATTTGTTAAGCACCTACT
Seq A exon
GTGAGTAGATGATCTCCTGTCAAAGACAGTTAACAAATCCTCGGAATATTGCTTCATGTACAGTTATTGGAGATGAGTAACTTACATTCTCTTAATTGTAATGGTTCCTTGGAAAGTCATCGTGGAAAATGAAGGCTGGCTCATACATTTTCCCAGACAGGAATTTGGCTGCCAACAGGGAATTCTAAACAACTAAAAACTCCAGATGATGAATGCACAACATAATGATGGTTAAATTAAAAAAAAAAAAGAGCACG
Seq C2 exon
ACAAACCTTGGAAATCAAGAAAGTTCTGGAATGATGAAGCTGTTCATGCCAAGACCGAAAGTGCTGGCCCAGTATGAGTCCATTCAGTTCATGCCGTGACAATTTTCTTGGAACTCCTTTTTATTGTTAGTTCTCACTTGTTTCCATATTTAGTGAATGTACATTTAATTGCAAAGCTGTCATTAATAAAAATTCTTATAGTACCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198054-1-4,3-4-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
ORF disruption when splice site is used (sequence inclusion)
No structure available
Features
Disorder rate (Iupred):
C1=0.037 A=NA C2=0.156
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGCTGAGCAAAAATGAAGGAGC
R:
ATGACAGCTTTGCAATTAAATGTACA
Band lengths:
276-533
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- 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)