HsaINT0048084 @ hg38
Intron Retention
Gene
ENSG00000160305 | DIP2A
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46545137-46545961:+
Coord C1 exon
chr21:46545137-46545273
Coord A exon
chr21:46545274-46545880
Coord C2 exon
chr21:46545881-46545961
Length
607 bp
Sequences
Splice sites
5' ss Seq
GAGGTTTGT
5' ss Score
6.36
3' ss Seq
CCCCTCTCCACTTTGTGCAGGCA
3' ss Score
7.7
Exon sequences
Seq C1 exon
CTAATGTATGTGTTGTGAAGTTAGAAGGTACCCCTTATCTTTGTAAAACTGATGAAGTGGGAGAAATATGCGTCAGTTCCAGTGCAACTGGCACAGCGTACTATGGATTGCTTGGAATCACGAAGAATGTGTTTGAG
Seq A exon
GTTTGTCCCTTTTCCTGACTTTCATGTTGAAGTTAAGTTGCATGAGCACTCATGGGGTCCCAGGTGTGCTGGGTGCTGGGGGATTGCAGAGGCTGCGGGGATGGTCTCCTTCCACACAGGCGCTGCTGGGGCTGTTGGCACATGGCCTGCACACCCCTGTGTGTCCTCCCAGAGTGAGGGCAAGGCCAGTACCAGGACCAGGCATGCTGTGGAGGGCTGGGAGTCAGCGTGCTTCCCACAGTCCTGCATGGGAGGAGGGTGTGTGGGTGCGGCCTGGTGGCCAATAGGAAGGCACTCACCGTGGCCCCAGGGAAACCAGCCCTCTGCTATATTTGCATTGTTGTGATGTGAGTTGTTCAGGACAAGTCTAGGGAGGCCAGGCACCCAGAGCAGAGGTAAAAGGGATGCTTGTTTCCTGCCTCAGGAGGCCTGCCCAGGAGATTGAGCAGCCAGGCCACAGAAACTGGGCCTATGCAGGGCCAGCCTCCTTTTTCCCCCTGGCCAGCAGGCGCACACGTGGTGCTGAGCCTCCTGCCGCCTGCTGGGTCTTTTTGGCCAGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAG
Seq C2 exon
GCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305:ENST00000400274:19
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(9.4=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(5.5=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:
TGTATGTGTTGTGAAGTTAGAAGGT
R:
AGGCCCGATGAAGCCCAG
Band lengths:
214-821
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development