HsaINT0051456 @ hg19
Intron Retention
Gene
ENSG00000147443 | DOK2
Description
docking protein 2, 56kDa [Source:HGNC Symbol;Acc:2991]
Coordinates
chr8:21769740-21771205:-
Coord C1 exon
chr8:21771050-21771205
Coord A exon
chr8:21770022-21771049
Coord C2 exon
chr8:21769740-21770021
Length
1028 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
CTCCCACGCCTCTGGCACAGAAA
3' ss Score
5.09
Exon sequences
Seq C1 exon
CTTCAGAGAAGGGAAACACACGGCTAAGAAGAGAGAGGCAAGGGCAGGAGTGAAGGAGAGAGCTGAAGCCTGGGGCTCCGAGATGGTCAGAGGATGGGAGACGGGGCAGTGAAACAAGGCTTCTTGTATCTTCAGCAGCAGCAGACGTTTGGAAAG
Seq A exon
GTAGGAGTGAGGCTGGGCTGGGGTTGGGCAGGGGGCCTGGGAGGCTGCTAGAATTCCTGGGTTGGAGAGGGAGTTTCATATTCAAAACCCTTATAGGTCTGACTGTGCACCCACCAAGTTAGACCCAGAGCTCAACTTTGGGAGGGCTCTTTTCCTACCCGACGCTGTCTCCTGAACCAGGCCCCAACCAGGTCCCAAACTGTGCTCCTTACTGAGGGCTGTTTGCCCTGGGTGGGGGTGGGGGATGTGCTGCTTTCATCTCTTGCCTCTTTTGCTCTCTTGCTCTATGTTGACTTCTTTTCACCGGACACCTTGGAAGGGAATGGAAGGGGCAGCTGGAGGGACAGTTTAGGATGACAATAGAGGTTCCTTCCCAACCCCAGTGGGGTGCATGTGGCTGGTGTTCAGCTTGGGCTGGGGCCTCTGGGGGCCTGGACCCCAGCCGGCTGTCCATCCTCTTTCCCCTTCCCTGGCCTCCTTGAACCAGGAAGTCCTCGTCCCCTAACCAACACTGGGGGGCACACCTGTCTCTCTCTCATGGCCCAACCTATCAAGGAATGAGGCAGCAAGGTTCAGGAGGGTGGAGAGAAGTTCTCCTTCAGGATTTCGCACAGAAGGAGAATGAGGTCTCCAGCCCGGGTCACACGCCGCCCTCCTCACTCCCTCCTCTGGGCCTCGGCCACTGCCCCGCTTTCCTCCCCAGACTGGAGTCCACTGCGGTGGGCCTGTTTGGCCTTCTTGCAGCCTGCTTTGGGCTCATCCCGGCGTTGCTTTCTGCCTGGGCAGTCTCTGCTCTTGCTCGTGGGCCTCCTTCTCGGGGCTGGCGGCTGATCTCCGATTTTCTAATTCCTGCAGTCACTGTCCTCTTCTCTGCCTCCCTGGGTCTCATGTGATCTTCACCTCTCTCTCCCCATCTCCAAGTGGCTGCCCCAGTCCCCCTCCCACGGTTCCTCTTCTCCCCTTGGCTCACGATCTCCCCGTCTCTGGGTGGCTCCCTCCCGCCCCCGCCTCCCACGCCTCTGGCACAG
Seq C2 exon
AAATGGCGCCGCTTCGGCGCCTCACTGTATGGAGGGTCGGACTGCGCCTTGGCCCGGCTGGAGCTGCAGGAGGGCCCGGAGAAGCCTCGTCGGTGTGAGGCTGCCCGGAAGGTCATCCGCCTCAGTGACTGCCTGCGGGTGGCCGAGGCCGGCGGAGAGGCCAGCAGCCCCCGGGACACCAGTGCCTTCTTCCTGGAGACCAAGGAGCGCCTGTACCTCCTGGCGGCCCCTGCAGCGGAGCGCGGCGACTGGGTGCAGGCCATCTGCCTCCTGGCCTTCCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147443-DOK2:NM_003974:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.028
Domain overlap (PFAM):
C1:
PF0016924=PH=PU(14.7=76.2)
A:
NA
C2:
PF0016924=PH=PD(83.5=96.8)
Main Inclusion Isoform:
NA
Other Inclusion 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:
CAGAGAAGGGAAACACACGGC
R:
TTGGTCTCCAGGAAGAAGGCA
Band lengths:
356-1384
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)