HsaINT0051456 @ hg38
Intron Retention
Gene
ENSG00000147443 | DOK2
Description
docking protein 2 [Source:HGNC Symbol;Acc:HGNC:2991]
Coordinates
chr8:21912229-21913860:-
Coord C1 exon
chr8:21913539-21913860
Coord A exon
chr8:21912511-21913538
Coord C2 exon
chr8:21912229-21912510
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
CTAACTCACTGGAAATGCAGGAAGCTTGAGTATAAAACTCACTCAGAAAAAAAAAAAAAAAAGAAAAAAAAGAACACACACTCAGAAGAAACCGCAGGGCCTATCAGCCTGTCGTCATCGAGCAGACTAGAATAGTATAGAAAACCCTAGGCAGAGAGGAAATGAACTTCAGAGAAGGGAAACACACGGCTAAGAAGAGAGAGGCAAGGGCAGGAGTGAAGGAGAGAGCTGAAGCCTGGGGCTCCGAGATGGTCAGAGGATGGGAGACGGGGCAGTGAAACAAGGCTTCTTGTATCTTCAGCAGCAGCAGACGTTTGGAAAG
Seq A exon
GTAGGAGTGAGGCTGGGCTGGGGTTGGGCAGGGGGCCTGGGAGGCTGCTAGAATTCCTGGGTTGGAGAGGGAGTTTCATATTCAAAACCCTTATAGGTCTGACTGTGCACCCACCAAGTTAGACCCAGAGCTCAACTTTGGGAGGGCTCTTTTCCTACCCGACGCTGTCTCCTGAACCAGGCCCCAACCAGGTCCCAAACTGTGCTCCTTACTGAGGGCTGTTTGCCCTGGGTGGGGGTGGGGGATGTGCTGCTTTCATCTCTTGCCTCTTTTGCTCTCTTGCTCTATGTTGACTTCTTTTCACCGGACACCTTGGAAGGGAATGGAAGGGGCAGCTGGAGGGACAGTTTAGGATGACAATAGAGGTTCCTTCCCAACCCCAGTGGGGTGCATGTGGCTGGTGTTCAGCTTGGGCTGGGGCCTCTGGGGGCCTGGACCCCAGCCGGCTGTCCATCCTCTTTCCCCTTCCCTGGCCTCCTTGAACCAGGAAGTCCTCGTCCCCTAACCAACACTGGGGGGCACACCTGTCTCTCTCTCATGGCCCAACCTATCAAGGAATGAGGCAGCAAGGTTCAGGAGGGTGGAGAGAAGTTCTCCTTCAGGATTTCGCACAGAAGGAGAATGAGGTCTCCAGCCCGGGTCACACGCCGCCCTCCTCACTCCCTCCTCTGGGCCTCGGCCACTGCCCCGCTTTCCTCCCCAGACTGGAGTCCACTGCGGTGGGCCTGTTTGGCCTTCTTGCAGCCTGCTTTGGGCTCATCCCGGCGTTGCTTTCTGCCTGGGCAGTCTCTGCTCTTGCTCGTGGGCCTCCTTCTCGGGGCTGGCGGCTGATCTCCGATTTTCTAATTCCTGCAGTCACTGTCCTCTTCTCTGCCTCCCTGGGTCTCATGTGATCTTCACCTCTCTCTCCCCATCTCCAAGTGGCTGCCCCAGTCCCCCTCCCACGGTTCCTCTTCTCCCCTTGGCTCACGATCTCCCCGTCTCTGGGTGGCTCCCTCCCGCCCCCGCCTCCCACGCCTCTGGCACAG
Seq C2 exon
AAATGGCGCCGCTTCGGCGCCTCACTGTATGGAGGGTCGGACTGCGCCTTGGCCCGGCTGGAGCTGCAGGAGGGCCCGGAGAAGCCTCGTCGGTGTGAGGCTGCCCGGAAGGTCATCCGCCTCAGTGACTGCCTGCGGGTGGCCGAGGCCGGCGGAGAGGCCAGCAGCCCCCGGGACACCAGTGCCTTCTTCCTGGAGACCAAGGAGCGCCTGTACCTCCTGGCGGCCCCTGCAGCGGAGCGCGGCGACTGGGTGCAGGCCATCTGCCTCCTGGCCTTCCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147443:ENST00000276420:1
Average complexity
IR
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