Special

HsaINT1011088 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46556939-46557753:+
Coord C1 exon
chr21:46556939-46557069
Coord A exon
chr21:46557070-46557584
Coord C2 exon
chr21:46557585-46557753
Length
515 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
ACGAGCCTTCCCTCTCGCAGTGT
3' ss Score
8.19
Exon sequences
Seq C1 exon
ATGTCGCACGCGGCCACAAGCGCCTTATGCCGCTCCATAAAGCTGCAGTGTGAGCTGTACCCCTCGCGGCAGATCGCCATCTGCCTCGACCCCTACTGTGGCCTTGGTTTTGCCCTGTGGTGTCTGTGCAG
Seq A exon
GTGAGTGCAGGGCCCCTGCTGCCTGCCAGGTGGGAGCAGCTCGTGTGGCTCTTAGGAACCTTGGCCTTCTAAGGCACCTTTTCTGGGTGCTCAGGAAGCCGATGAGATGTGTGTGAGTGGGTTTGTTTGGGGATGAAGTGGGTTGGAGTCTGAGTCTGAAATTGAGTGAAAATACATTTTTCATTAAATACACTGTCCGTTATCAGTACTTGGGAAGAATCTGCTTGATTCCTTCAAACACTAGAAAGTGGCGATCCGTCTCTAGAAGTGAATGCCTCTGGAGTGGTGTCCCCGGATCCTCTCCAAGTGTTCGGAGCAGAGCTCAGAACCCCGTGCCTGCCATCCCCCAACCTTCACCCTGTGGCATGTTTTCCACCAAACCCCCCCACTTGGCGTCAGAACAGAAATCATGCCCCTGTTGTGGCTGGAAAAGAAGTGTTCTTGAGGAAGGGAAGAGTGGAGTGCCCAGGGTGCTGGGTGGGCGGGCGGAGCCTCACGAGCCTTCCCTCTCGCAG
Seq C2 exon
TGTCTACTCGGGACACCAATCAGTGCTGGTGCCCCCGCTGGAGCTGGAGAGCAACGTGTCCCTGTGGCTGTCGGCCGTCAGCCAGTACAAGGCCCGCGTCACCTTCTGCTCCTACTCTGTGATGGAGATGTGCACCAAGGGCCTAGGCGCACAGACGGGTGTCCTCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305:ENST00000400274:30
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(9.1=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(11.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACAAGCGCCTTATGCCG
R:
CCTGAGGACACCCGTCTGT
Band lengths:
287-802
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains