Special

HsaINT0048081 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46538483-46539991:+
Coord C1 exon
chr21:46538483-46538602
Coord A exon
chr21:46538603-46539876
Coord C2 exon
chr21:46539877-46539991
Length
1274 bp
Sequences
Splice sites
5' ss Seq
CGTGTGAGT
5' ss Score
7.42
3' ss Seq
ACTCTTGTTGCTCTGTGCAGGGT
3' ss Score
8.4
Exon sequences
Seq C1 exon
CTCGGGCCGCGCTGGTGAAGTCGCGAGACATGCACTGGTCTCTCCTAGCTCAGCGGGGCCAGAGGGACGTCAGCCTCAGCTCACTGCGCATGCTGATTGTGGCCGATGGTGCCAACCCGT
Seq A exon
GTGAGTGAGCCTGTGTGCCCGGCGCATACCCCACACAGTGTCCCCTCCTGCAAACCAAAGTAGAATACACTGAGAAGCAAAATGGAGGCATTTTCACTGCCATTGTCATATAGATACACATGTCCCATCGTTTCTATGACACGGAACATCTTGGTGATTCACTGGTTTATCCCATGCATGTTTATTAGGCCACTAAATTTAAAAGCAATTTTAATATGCTTGATGAAAGGTACATGCCTTAATGAGAGTCATCTTTCTTAAGAAATTACCAGATTGTGCTGTGGCCTGGGGTTCCTGTTTCTCTTTAGGCCTCATCCCCACCCTCCTGCCCTTTGTCCTGGTGCCCCCACGTCTCTGGCTTCTGGCTTCACTTCTCCCACCAGGACCCAACCATTCTCCCTCCTGGTTTGCCTGGGTGTCCCCCACATCCTCCCAGGAGGAGCTCCCTATGGCTGCTGCCTGACCACGTAGGGCCTCCTGCGTACGGTGGTCTGAATGGGAACTGCTTTGTCAAGGCTGCACACGTGAGCTCTGGGGCCCAGGACTGTCCAGGGTCTGACTCAGTACCTCCTCTGGGGAAGCCTCAGGTGATGCTGGTCACACAGGGGCTCCTGTTGCAGCACACACCTGTTGACCAGGTATTAGGGGTTTTCTTGTTTGTTAACCTGCATCATTGTCTATGCACTGGAGACTACCCTGCATCAGAAGCTGATGTTTCATCTTATCCCCTCTCCAGTGTGGCCGACACCCCATCTCTTGGGAGGTCACCCCACCTTTGAGCACCCCCAGAGCCTCTCATTCTCTTGGTCCACACCTGAGCCAGGCAGGGCCTGCTTCTGGGTTCTGCAGCACTGCTCAGGTCTCTGCGTCTCCACCCCAGGCGCACCGCCACTCCGTGGTCCCCATGGTGGAGTCAGAGTGTGCACCTCCTCTCCAGTGCCTCTTCCCATGGCACTCCCCTGTTGCTGCACCTGATCCTTGCAGTGCCGTGCAGCTTGTCTCCCACCACATGCAGCACCTTCCTGTCCCTAGTGATGCCCCTTCTGCCCTTTGGAGCACCAGACCATCCATGGCTGTCTGATTTCCTTTAAAGATACCATCTTCCTTGAAGAACATGAAGTCTGAGGGTACCTGTGAAGGGGCCCCTTCCTTCTGCTGATGCAGCCCTGTGGTTCCGATGGCCGCAGGCTGCGCTAACTTGAGCATGTCCAGCCACCCCTTCCCTGCTGGCCCCCCAGTTAGTGCTGGCGTTCCACTCTTGTTGCTCTGTGCAG
Seq C2 exon
GGTCGATCTCCTCCTGTGACGCCTTCCTCAACGTCTTCCAGTCCAGAGGTCTGAGGCCAGAGGTCATCTGTCCTTGTGCAAGTTCTCCTGAGGCGCTGACTGTCGCCATCCGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305:ENST00000400274:16
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=0.051
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(8.4=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(8.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCTGGTGAAGTCGCGAG
R:
GACAGTCAGCGCCTCAGGAG
Band lengths:
215-1489
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development