Special

HsaINT0048091 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46554822-46556091:+
Coord C1 exon
chr21:46554822-46554933
Coord A exon
chr21:46554934-46555981
Coord C2 exon
chr21:46555982-46556091
Length
1048 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGT
5' ss Score
9.73
3' ss Seq
TGGTGTCTCCTGTTTAACAGATG
3' ss Score
8.94
Exon sequences
Seq C1 exon
GTCAGCAAGTCTGCATGCGTCCTCACCACGCAGGCTGTCACACGGCTGCTCAGGTCCAAGGAGGCTGCTGCTGCCGTGGACATCAGGACCTGGCCCACCATCCTAGACACAG
Seq A exon
GTGCGTGTCCTCGCACTGCCCAGGACCAGTCCCTTTTCCTTTCTTTGTTGTAGGTGTGGTGTGGCCTGGCTGCCGTCCAAAAACACACGTGAGGCAAGAGCAGTCCTGGCAGGAGCCTGGCTGACAGCAGGGGGTGCCCCGGGCCCTGGTGGGGAGTAGGGGTCCCTGTCCCATGTGTAAACCCACGCTCCACTCAGCCCACAGCAGCCGCACCCAGTCCCAAGTGGTGTGGAGCACAGCCTTGCCCCTCTCACCCGCCTCCTACTGGCATGGGGGCTGGCAGCTCTCTGAGGCTTTCTGCAAACGCTTTGAGGACACAGCTCCCACCGCATGCCGCCACTCCAGCATCCCTGTCCCCATCATTGGTGAATGCTGTCATGCCCCATGAAATGCTGAGGGCCAACAGGGTGAGGGTCAGAAACCCCCCTGGCTCCCCTCTGCCGTGGACCTGTCTCAGCCTGGGCTGGATGGGGCTGGGCCAGGGCAGCTGGTGTAGGGGAGGGCAGGCTCAGAGCCAAACAGCTGGCCAGGGCCCCAAAGCCTCACGGGCTTGCCTCAAGGGGAGCGGTGCCTGCCCTGCTGAGCCTGTGTCCAGTTGCACCCAGGGAGGCAGTGGTGTCTGGCTCATGGGGCCACGAGAACTTGATGAAGCACGCAGAACCCAGAGCCCGTCCACAGCTATTCTTGCTGTGGTCGGGACTCGGCTCATCTGGGCTTTGCCATAGGCTCTGTGACTTTTGGCAAATCCCTAGTCCTCTAATCTTTCCTACTGGTCAGTGACGTGATGCCTCCCCTCTTCGCCCTGCCTCGTCCCCCATCCCCACAGGCTCAGTGTGGTCTTGGTGGGACCGGGTAGCGTTTCCATGAAGAATGAAATACGCTTTCCTGAGCACGCACAGCCTGCATCGTCACGGCCCCACTCCCGTCTGAGCTCACTCTCTGCAGGACTCCCAAGGACAAATCATGTGTCGCCTCTTGCCTGTGAAAGCCCAGAGCGTTCAGAATACATGTGGGAACACTAATGTTGCTGGTGTCTCCTGTTTAACAG
Seq C2 exon
ATGACATCCCAAAAAAGAAGATAGCAAGCGTTTTCAGGCCCCCCTCCCCCGATGTCCTCGCATACTTGGACTTCAGCGTGTCAACCACTGGGATATTAGCGGGAGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305:ENST00000400274:28
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(20.9=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(20.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGTCTGCATGCGTCCTCAC
R:
TCACTCCCGCTAATATCCCAGT
Band lengths:
215-1263
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