Special

HsaINT0048087 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46551634-46551904:+
Coord C1 exon
chr21:46551634-46551743
Coord A exon
chr21:46551744-46551823
Coord C2 exon
chr21:46551824-46551904
Length
80 bp
Sequences
Splice sites
5' ss Seq
AAGGTGACA
5' ss Score
5.19
3' ss Seq
CAAGTCGCCCTCTCGTGCAGTTC
3' ss Score
6.15
Exon sequences
Seq C1 exon
AGGTTGGACCAGCCTCAATGATCGTGGGGAACCTGGTTGCTGGGAAGAGAATCGCTCAGGCTTCCGGGAGAGAGCTCGCCCACCTGGAGGACAGCGACCAGGCACGGAAG
Seq A exon
GTGACAGGCCAGTTCCGGGGACGGGTGGACGGGTGTCTGTGCCCCGGAGGCGCCAGTGAGCAAGTCGCCCTCTCGTGCAG
Seq C2 exon
TTCCTGTTCCTGGCTGACGTGCTGCAGTGGCGTGCCCACACCACTCCTGACCACCCGCTGTTCTTGCTGCTGAACGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305:ENST00000400274:24
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.054 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0050123=AMP-binding=PU(10.7=70.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GACCAGCCTCAATGATCGTGG
R:
CAAGAACAGCGGGTGGTCAG
Band lengths:
170-250
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