HsaINT0048120 @ hg38
Intron Retention
Gene
ENSG00000066084 | DIP2B
Description
disco interacting protein 2 homolog B [Source:HGNC Symbol;Acc:HGNC:29284]
Coordinates
chr12:50697061-50698467:+
Coord C1 exon
chr12:50697061-50697175
Coord A exon
chr12:50697176-50698327
Coord C2 exon
chr12:50698328-50698467
Length
1152 bp
Sequences
Splice sites
5' ss Seq
CAGGTACTG
5' ss Score
9.04
3' ss Seq
TGATGGGTTCTTCTTTTCAGGCC
3' ss Score
9.46
Exon sequences
Seq C1 exon
GGTCCGTGTCATCCTGTGATGCCTTCCTGAGTCTGTTCCAAAGTCATGGACTGAAGCCTGAGGCCATCTGTCCGTGCGCCACGTCTGCTGAAGCCATGACTGTAGCAATCCGCAG
Seq A exon
GTACTGTTCAGGATGTCAGATGCTCTTGATGTATGTTACAACTTGGATGAAATGTGCAGTATTTACCAGGTGATGACCAACGGATGTTAACTAATTTTCTAAGCAGTTTCAAGCATCTCATTTTTCCCACTCTTGCTCAAAGTGTATGCAGTAAACTGAAAAATTTAATTGATATCATTTCGTATTTGTGAATTAGCTCTTTTTCTGTGCCATTTTGCTCTTCGGAATCCATAGCACCTTAGATTAAAAATAGACTGTTCTTGATTGTAGCTTAAGTATGGATAGTATATCTATAGTATATTCAAGACCATTATGTATGTAAGTATCAGTGAATGTGTGTGTGTGTATATAGATATACTTTTTTTTTTTTTTTTTTTTTTTTTTTAGATAGGATCTCTCTTTGTCACCCAGTGGCATGATTATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAACAGTCCTCCTGCCTCAACTTCCTGAGTAGCTAGGACTACAGGCATGTACCACCACGCCTGGCTAATTTTTAAATTTTTTTGTAGAGATAGGTTCTTGTTATGTTGCCCAGGCTGGTCTCGAATTACTGGCTTTGAGCAGTCCACCTTCCTTGTCCTCCCAAGTGCTGGGATTGTAAGCATGAGCCACCAAGCCTGGCCCAGTACGCAATACTTGATGATGATGATAAATGACCATTTTGCTGGTTTATGTGTTTACTACACTACATTTTTTTTAAATTTAATTTTTGAGAGATGGGGTCTTGCTCTGTTATCCAGGCTGGAGCACAGTGACACGATCATTGTAGCCTCAACCTCCCAGGCTCAGATGGTTCTCCCACCTTAGCCTCCCAAGTAGCTGGGACTACAAGCATGTGCCATCATACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGGTCCCACTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCACAGCAGTTGCTGGGATCACAGGTGTGAGACACCACACCCAGCTCTAATTTGGCATATTTTTGGGAGAGAAAATGGAGAATTTTTTTGGTATTGTAGCCAGAGGAAATTTGTCTTCCTATGTATTTGTATTTTTCCCTTGATGTTATTTCATTCACCAAACTTGATGGGTTCTTCTTTTCAG
Seq C2 exon
GCCTGGAGTTCCAGGAGCCCCTTTGCCAGGAAGAGCCATTCTCTCAATGAATGGATTGAGCTATGGGGTAATACGGGTCAATACTGAAGATAAAAATTCAGCACTGACGGTCCAGGATGTAGGGCATGTAATGCCTGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066084:ENST00000546732:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.021
Domain overlap (PFAM):
C1:
PF0050123=AMP-binding=FE(8.0=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(9.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCGTGTCATCCTGTGATGC
R:
CATTACATGCCCTACATCCTGGAC
Band lengths:
247-1399
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