HsaINT0048092 @ hg38
Intron Retention
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46555982-46557069:+
Coord C1 exon
chr21:46555982-46556091
Coord A exon
chr21:46556092-46556938
Coord C2 exon
chr21:46556939-46557069
Length
847 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGT
5' ss Score
10.29
3' ss Seq
AACTTTATTTTACTCTTAAGATG
3' ss Score
4.86
Exon sequences
Seq C1 exon
ATGACATCCCAAAAAAGAAGATAGCAAGCGTTTTCAGGCCCCCCTCCCCCGATGTCCTCGCATACTTGGACTTCAGCGTGTCAACCACTGGGATATTAGCGGGAGTGAAG
Seq A exon
GTAGGTCCTCTGAAATCTTGTTTGCTTCAGCCCCTAGAAATCAGGAGGAGTGGACAGAAAGGATGTCAGATGCAGATTTAAACTGACAGGTCCTTCTTATGCAAAGCACAAAGCAACAATTTTGCTTCTTAAGATTTGTGTTAAATACCAATAAATGCTAAGATGTGATTAGCCTGAGAGTAATGCGTTTTCTGATGCATTATGGTTATGTCTAAACTTTCTGATTTATGACTGTCTAGCTTACAGGAACTGGTGGCTTTGAAGAATCTCTTACCTTGCTGGGAGTCAATAGCTCAATTAAAATTTTTCAGGCGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACAAGATCAAGAGATGGAGACCATCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTCTAATCCCAGATACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAGAAAAAAATTTTAAAAATTCATTACCCTGAAATTTTGTTTCAAAGATTTTTAGTGTACCATTTCTTGGGTATTATTTAGGTTATATGGGGATTTGAGCCAACCGTCTTTTAAGGAAATAAATATGATGTTTGGTAGTTCGGAGCTATGGTCTAGCCATGTGAACAGCGGACACTGCCATCCACCCTCTCCCCTCCTGAATTTCATTTCACTTTTTTTTTTTGAACTTTATTTTACTCTTAAG
Seq C2 exon
ATGTCGCACGCGGCCACAAGCGCCTTATGCCGCTCCATAAAGCTGCAGTGTGAGCTGTACCCCTCGCGGCAGATCGCCATCTGCCTCGACCCCTACTGTGGCCTTGGTTTTGCCCTGTGGTGTCTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305:ENST00000400274:29
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=0.000
Domain overlap (PFAM):
C1:
PF0050123=AMP-binding=FE(20.3=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(9.1=100)
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:
AAAAAGAAGATAGCAAGCGTTTTCA
R:
CTGCACAGACACCACAGGG
Band lengths:
230-1077
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