Special

HsaINT0048132 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog B [Source:HGNC Symbol;Acc:HGNC:29284]
Coordinates
chr12:50724775-50727812:+
Coord C1 exon
chr12:50724775-50724886
Coord A exon
chr12:50724887-50727702
Coord C2 exon
chr12:50727703-50727812
Length
2816 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAAA
5' ss Score
5.07
3' ss Seq
GTTTTTTCTTTTCATGGCAGATG
3' ss Score
10.14
Exon sequences
Seq C1 exon
GTCAGCAAAGCAGCCTGTATTCTCACCAGTCAGACCCTAATGAGGCTACTGAGGTCCCGAGAGGCAGCAGCAGCTGTGGATGTGAAAACCTGGCCAACCATCATTGACACAG
Seq A exon
GTGAAAGGGAGACTTCTTCTGAGGGTGGAGGGACTGAGAGCTCACAATACCTGAGATCTCCTCCATTCTCATGCCAGACGTGTTTACCCTGCCTTTATGTCTTCTGCCTGCTAAGACAGAGGCAAAACCTAGGATCAGTAAGCTTGTGCAGGACTAGACACTGACAGCAGATGCAAAGAGCCAGATCACAGTCTGCTAAGAGCTCTCCAAACAAAATTGTTTTGCTGTTACTCTTGGCATCATAAAAAGGTGGTTAGGTTTTTATGCTACATGTGACTATGTACATGTAGGGCCAAGTAAAATATTGAGACAATCTGATCCTTTCGTTCGAGATGTGATATTGTTGAAACAATACTGGACTAGGAGTCAGGTGATTTGGGTTCTGGCTCAAGCTTCATTACCTACTGCTTGTGTAATCTTGACTGAAATTACCCTTTCCTAAGCTACTGCCTACCCCTGCCTGACTTGAATATTTATTGAGAAGATGAAATGCAGTATAATATGAAAATGCTATACTTCGAAAGCCATAAAGTGCAGAATTTTTAGATAGTATTCGTATTAAAGAAGGGGATAAGATAAGGGAATAGCTGAAAAAGCTGTGGTATAGGAAGAGTGTGGGTGTTGGAGTCAGGCAGGTAGGGTTTAAGTCCTGCTGTATCTGCTACTCTCTGAGTATCCGTACTAACCTGTCTATAAAGTGGGAGTTGTAAAGATTAAATGATGTAACACAAAGCTTCTAGCATGTAATCATAATGATAACATCTAATCTTCATTGAGCCCTTATGATATGTCAGTCATTTAATGTGTTATATAATTTTATCCTTACAATAACCCTGTAAGTTGCTATTTTTATCCTCATTTTGCAGATTAGAAAACTGAGGGAAGTTAAATAAGCAGCAGAACTGAAATTCAAATCCAGCCAGTTTGGCTCCATTCCCAGCCTCTTAACCATTAATGTCCTCCCTACCCTTTTTTTTTTTTTTTAACTCTGGATTCAAATGCAGGAATGACATGTATTTGTGGTTATTGTGTACCAGATGCTGAACTGGGTTTTTTAAATATTTGTTACTGAAGGATAGAAGCACAGTTATATACAATATTTATCACAAATGGATTGTGTTGGTGTTAATGATGCTGGTAGGTCTATGGTTAATGGGCTCAATCACAACAGGAAGGTTTCTTTAGGCACTTGAGTGGTCATAGGAGTGACCCTTCCCTGCACAAAGGGAGGTCAAAGGTGTTAGTCTTTCATTTGACCAGAAATGGGTGCCCCATGTTATGGTGATTTAAAACTCAGAGTCAGACATCCTTCTTGATCCAGAAAGCCAAAGGAGCCATTGAAGAGGTATGGCTGGAGCCAGAGGAAATCTTTGACATCCCTGGTTTTGGCATACTTATAAAGCACATGGGGGGAAGCAGAGGAGGTATCATAAATGAGTGAAAGCAGCGAATTCCCAGTTCTTGGCTACCATTCTCTTTTGGAGACGGGGCCCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACCCCAGTCCTCAAGTGGTCTACCTGCCTCGGCCTTCCAGAGTGCTAGGATTACAAGTGTGAGCCACCGCACCTGGCCACCATTTTTCTTTCTTTCTTTTTTTTTTTTTAAAGAGACATGATCTTGATATGTTACCCAGGTTGGTCTCAAACTCCTGGGTTCACACAACCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCCTGAGTCACTGCACCCAGATAGATTACTATTCTTAAAATTCTGCCAGGTTAGCCAGGTGCAGTGGCTCATGGTTGTAATGCCAGCACTCTGAGAGGCTGAGGCAGGAGGATCACTTGGGCTCAGGAGTTGGAGACTAGCCTGGGCAATACAGTGAGACCTCACCTCTACAAAAAAAATTTTTATTTAATTAGCTAGGCATGGTGGCATGGACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCATTTGAACTCAGCAGATGGAGGTTGCAGTGACCCGAGATCGAGCCACTGCACTCCAACCTTGGCAATAGAGCAAGACTCTGTCTCAAAAAAAGAAAAAATCTGCTAATTTAACTTAGAGAAATACTTTCCAACTTTTAAATCCATACATGATTAATATAACACATACTAAAGTGTAAATAATGAACTTTAACTTGAAACCAGCATAACAGCTAATGCTTTTTGAGCATTTCTTCAGTCAGTTGCTTTAAAAGTGCTTTATGTGAATTAACTTCCCAACAGTTCTATGAGGGTAGGTATTATTTTAGAGATTCATTTTAGAGAAAAAGAAAACAGACACAAAGAGGTGAAATAACTCCAAGGTCACGTAGCTGAGGGTAGAGCTGGCATTTGAACAGCAGTCTGCTTCCTACTGTGTTCTGTTTCCCCTTACTAAGCTGCTAGCAGATACATTTACCTGATGTAGATTTGCTTGCCTGTGTTGTCTAGTGTTGTCCTCAACCCCAGCCCACCTCTAAGAATGACATATGTGAGCTACTTGGTTAAATATGAGAGGCCTAAGCTTTAGCAAATCTGCGAAGCTAAATTTGGCCATAGCAAAGCCACAGAAGAGCAATGATTTTCATGTTCCAGCATGTTGGATTGACATCAGGTTTTTTCTTTTCATGGCAG
Seq C2 exon
ATGATTTACCCAGGAAAAGGTTACCTCAGCTGTATAAACCGCCCACTCCTGAGATGTTGGCATATCTTGATTTTAGTGTCTCCACAACTGGCATGCTTACAGGAGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066084:ENST00000546732:17
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=0.027
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(7.8=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(7.6=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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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