Special

HsaINT0048131 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog B [Source:HGNC Symbol;Acc:HGNC:29284]
Coordinates
chr12:50723202-50724886:+
Coord C1 exon
chr12:50723202-50723323
Coord A exon
chr12:50723324-50724774
Coord C2 exon
chr12:50724775-50724886
Length
1451 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGT
5' ss Score
9.11
3' ss Seq
GCTGTCCATTTGTTTTCTAGGTC
3' ss Score
11.22
Exon sequences
Seq C1 exon
GCATTGAGTTAATCGCCGCCTTCTATGGCTGCCTGTATGCGGGCTGTATACCTGTGACCGTCAGACCTCCACATGCTCAGAACCTCACGGCCACGCTGCCCACTGTCCGAATGATTGTTGAT
Seq A exon
GTAAGTACCAGCTGTATCTTGCCTTGTCCTCATCTCCTAAAATCCAGATTCAGACAACTAAGGATCCTTACTAATTTTCCAATTTTGTTAAGTCAGGAATTCAAATTTGTCTTCTGGAGACTACCTCCTTTTTGTTAATCCAGCCAAAGCAGTCATCATTATTCAGTGAAGGAACTGGGGGAAAGTGGTTATTGGTGAGATACAGAATTGTGTGCAGTTATCATGAACATTAAAGAGGTGAAGCAGCCATTAGTATTTCTACAACAAAAACACAAAAGGTAGCCAGGCATTGTGGCACTTGCCTGTAGTTCCAGCGACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGTCTGGGAGGTGGAGGTTAGAAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGAGCAGACCCTGTCGCCAAAAGAAAAAAAAAAAGTGTTTCCCCCTCCCTTCTGTCTAAAACGTGCTGTCTGATATTTTTCCTGCAAAATTATCTAGGCGATTTTAAATGCCAAACTGAATTATCCCCAGTGTCAAGTCACTTCTATTTTAGTTACTTTTGTGAATTTACTTGGTATAGCATTAAAAGGTGTCCAGAACTTGCTCTGGAGATGATAGAAGTTTTTATAGGATATGAGAGTTAAAGAAAATAAGATAAGTGTGTATTGCATGAGATCCTAGTGTTTACAGCAAGGGGAAGCCTTGGCCAGTGCTGACAGATTACAAAATTCCAGTTCATGTAGCATTTGCTTCTCTGAGAACTGCTGCTCTGTCAGCAAAAATGGAGCCCACAGTATAAAAGCCATGATCACCATAGATGATTTTATTACAAAGTGTAATTCAGCAAAATGCCCTTGTTATATTCTACAAAGTGGGCCAGAAAAGCAGGGAGGGGAGTTGCTGTTGATGCAGTTCGTGGGCAAAGTAGGTCATAGGTCACTTTGCATTTCTGTGTATAGCTGGGCAAGAGAACCTAGTTTCTGTGAGAGCTTATATCAGCATCAGGGTTCCTTAGGTTCAGTGTATGGGCTAGGTGTAGTAAGTCTCATCATTCACTAGAGACTGGGGCAGTCTCCTTCAAACATGGTTATCCGATTCTTCTCATTTCCTGAGCACTACAAAACCCACATCTTTATTTAATTGTGGTCTTCATGAAATCTTGGGATTGTGGGATCTATACTGAGATTATAACTGAAATACTTTGAGAATCACTGTTATAAATGATACAGTGTATTGTGAACAGGTCCATCATTCTGAGAGAATTAAATGTCACACATTTCCAGAAGGAAACATGCAAGGGAGTAACACTGACCTCGTCTGTCTCACATGTGTTCTTTGAAACTGTCCTGTCCAGTGTGGTACATGAGTGGCTTTTAGCAGCAGCCAGGGCCTGTGGTGCCATGTTGGGGCTGAGCCTCCTGATGCTTATTGCTGTCCATTTGTTTTCTAG
Seq C2 exon
GTCAGCAAAGCAGCCTGTATTCTCACCAGTCAGACCCTAATGAGGCTACTGAGGTCCCGAGAGGCAGCAGCAGCTGTGGATGTGAAAACCTGGCCAACCATCATTGACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066084:ENST00000546732:16
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=0.000
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(8.4=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(7.8=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:
GCATTGAGTTAATCGCCGCCT
R:
CTGTGTCAATGATGGTTGGCC
Band lengths:
234-1685
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