Special

HsaINT0048133 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog B [Source:HGNC Symbol;Acc:HGNC:29284]
Coordinates
chr12:50727703-50728678:+
Coord C1 exon
chr12:50727703-50727812
Coord A exon
chr12:50727813-50728547
Coord C2 exon
chr12:50728548-50728678
Length
735 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
CCATTTTCCATACTTTCCAGATG
3' ss Score
9.91
Exon sequences
Seq C1 exon
ATGATTTACCCAGGAAAAGGTTACCTCAGCTGTATAAACCGCCCACTCCTGAGATGTTGGCATATCTTGATTTTAGTGTCTCCACAACTGGCATGCTTACAGGAGTGAAG
Seq A exon
GTAAGGTGCATGCTGGAAAAATGCCACATCTGCCAAAAAATAGAGATGACCACTGCCCCAGAAACTATAGATGCAGAGGCCAAGTGGTTGTACCAGAGACCGGTAGGCAGAGTGAAGATCTAAGTCGCTGCTCTATTTAAATAAAGGCATTGGCTCCTCTGGAATGAGTTATCACAAGGAATTTGTATTATTAAGCGTCTGAACCTAGCATAGAAGCTGAAAGAAAAAGAGTTTTAGTTAAAATATGTATGAAATCTGATATTTAGATATCATAAAATGCAGTATTCGCTGGGCACGGTGGCTCACGCCTGTTATCCCAGCTCCTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAACAACATGGAAAACCCCGTCTCTACTAAAAATAGAAAATCAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGTTGCGGTGAGCTGAGATCGTGCCATTGCACCGCAGCCTGGGCAACAGGAGTGAAACTCCATCTAAAAAAAAAAAAAATTCATTATTAACTAATGAACAGAAATATGTTCCCTTAATGGAGTCTTAGATTAGGCTTTGAAGCACTAAAAATTATGCATTGTTTTGAGGAGTTTAGGGAATTGAAACTCCTCAAAGCTGTCGTCAGAGCTGTTACTCTGCCTGTGGGATAACAGTCCCAGCCTGTTCCATTTTCCATACTTTCCAG
Seq C2 exon
ATGTCCCACTCTGCAGTGAACGCTCTGTGTCGAGCCATCAAGCTCCAGTGTGAGTTGTACTCTTCTCGGCAGATCGCCATCTGCCTTGACCCTTACTGTGGACTTGGCTTCGCGCTCTGGTGTCTCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066084:ENST00000546732:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.027 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(7.6=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(9.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ATTTACCCAGGAAAAGGTTACCTCA
R:
CTGCAGAGACACCAGAGCG
Band lengths:
238-973
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