Special

HsaINT0048115 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog B [Source:HGNC Symbol;Acc:HGNC:29284]
Coordinates
chr12:50686573-50693013:+
Coord C1 exon
chr12:50686573-50686682
Coord A exon
chr12:50686683-50692948
Coord C2 exon
chr12:50692949-50693013
Length
6266 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
3' ss Seq
TCCTATTTTTTCTATTTTAGGGG
3' ss Score
12.24
Exon sequences
Seq C1 exon
GTTGGCCCCGGCTCAAATGGGTTGTAACAGATTCCAAGTACCTTTCAAAGCCACCGAAAGACTGGCAGCCACACATCTCACCTGCTGGGACAGAACCGGCATACATTGAG
Seq A exon
GTAAGTCCTAAGATGTAAAATATGCTTTCAGGCTTTTCCTTGGGCTTTGCTTGCCACCTTTCAAAATATAAAACTGAATTTTTGCAACGTTAATGTTAGAAGATCCTCCTGCTTTGTGAGATTTCCATCTTTTGGCTTGTAAAATGCCTTGTAGTGGATCTTCTATCCTAATTATTTTGATCATAAGTATACATTCAAGAGAATGACGGCAAAAAAAAAAGGATTCTTCATGTAAGAAAGTTACAAAAGACTTTAGGGAAGTACAAGCGTTTAGGAAATGATGTACTGGCAGAGAAATTTCTCTGCTGCTTATTTAGAGAGGTTGGGGGTAAGAGAACGGAGAAATGAGGAGGGAAAATAGCTCTGCTTAAAAGAACAGATTAGTAGATGAAAGATAAAGAGCAAGAATAAACAAATGGCTGGAAGGTTTGATATTGAGGTTGGTATAGAAATGCAATTGGCAACATGATCCCATTAATGGATTAAGCAAATCCAAGTGCACAGCAGGCACCAGGCTGAATGCTTTAAGTGCATTTTCTCATGTAGTCCTCACAAGTACCCTGTGAGGTTTGGATTATTACTAAACTTACTTTATAGATGAGGAGACTAAGACTTAAAAGAATTTCCGTAGCTGAGCAAAGGCCACATGACTCAAAAATGGCAGAGCTAGACTCAGAGTTAGGTCTAACTCTAAAAGCTGTGGCCTTCACCACTCTGCATCCTGCCTGAGACATATGCTCACCAATTGTTAAGTTAATGAACAGGCAAATCAATAAAAATTTTTTTCAAGATCTGGGGGAAAATCATCTAGCCTTGAACACTGTGGTGATAAGTAGAGAGAACTTCAAAAAATTTTGGATATAGAAAAGAGAGGCTGGGAGAATGAGTTCATGTCCTTTGCAGGACATAGATGAAGCTGGAAGCCATCATTCTCAGCAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTTATAAATGGGAGTTGAACAATAGGAACACATGGACACAGGGAGGGGAATATCACACCGGGGCCTGTTGAGGGCTGGGGGGCAAGGGGAGGGAGATCATTAGGACAAATACCTAATGCATGCGGGGCTTAAAACCTAGATGACGAGTTGATAGGTACAGCAAATCACCATGGCACACATATACCTATGTAACCTACATGCAAGTTCTGCACGTGTCCCAGAACTTAAAAGTAAAATTAAAAAAAAAAAAAAATAGAAAAGAGAGGCTGGGGTGGGACACATTGGTTCACGCCTGTAATCCTGGCACTTTTGGAGGCTGAGGTGGATGCTCCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGTGAAACCCCGTTTCTACTAAAAATAAAAAAAATTAGCTGGGCATGATGATGCACGTCTGTAGTCCCAGCTGCTTGGGAGGTTGAGGCGGGAGGATCACTTGAACCCAGGATGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTAGAGAGGCTGGATGCAATGGTTCACATCTGTCTGTAATCCCAGCACTTTGGAAGGCCAAATAGGAGGACTGCAAAGAAAAGGAAGAGAGTGACCAGTAGCTCTGAGAGGTGATGGGGGTATTATTGGATGCCAGGATGATTGTTTTTAAAGGTGAAACAGATCTAAGTATCTTTAAAAGACAGACAGATAGGCCAGGTAAGATGGCTCATGCCTTTAATCCCAGTATTTTGGGAGGCTGAGGGAGCTGGATTGCTTGAACTCAGGAATTCAAGACTAACCTGAGTAACATAGTGAGACCCTGTCTCTACAAAAAATAAAAAATTAGCTGGGCCTGGTGGTATGCACCTATAGTCCCAGCTACTCAAGGAGTCTAAGGTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCAACAGTGAGCTGTGTTCATGCCACTGCACCCTATCCTGGATGACAGAGCACAATTCTGTCTCAAAAAAGAAAAAAATACAAATAAGCAATTAAAAATACCAAATTTAGTGATCAGCTCTCAATCTATGTCATGTCTCAGTGATGACATGGTTCATCACTCGGTCCTCCTTAAAACTCCAGTCCTGGCTTCTTGGACTCCTCTCTCAGTTCCTCTGCCTCATTGGCCATTCCTTCAGTTGTCTTTATTGGCTCTCCGAAAGGTGGAGGGTCCTCCATTGTGTGGCTCTTGCTTAGCTCTCTGGCCTTATTAGAACTTCTACCCTCTGTCTTTCTAGGTGCCTGTTATTTTGAATTAACTTGCAGTTCTTGCTTGGGATCCTCCTATTACCCACAGGACTCTACTAGTGAGTTTAAAGCATCTCTGGGTAATAGGGAGTTATTAAAGGGTTGTCAGCAGGAGAGTGACAAGAATGAATTTATTATAAGAAGATATATCTGGACTGGTTGGGTTAAGAAAGGAAATAAGGGCTGGGCGCAGTGGCTCACCCCTATTATCCTAACACCTTGGGAGGCTTAGGCAGGCGGATCATTTGAGCTCAGGAGTTCGAGACGAGCCTGGGCAACATGGCGAAATTCTGTCTCTACAAAAAATAACAAAAATTAACCGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGCCTGGGAGCTCAAAGCTGCAGTGAGCCATGATCGTGCCACTGCATTCCAGCCTGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAGGAGACCGGCTTTACAGTTATTCAGGTGAGCCCAAGCTTATGGTAGAGAGCAGAGAGCAAAGTAGATGGAGCTTCAGACAGTAAGGAAATAGAGCAGGCAGGGCTTAGTTACTGATGCTGGAGAGGGAGAAGGCAAGACAGACTCAGGTTTCTTGCTTGAGCAACTGGGATTGATGGCAGCATCCTTCACTAAGATAGAAAATACAACAGGAAGAGTTTCCAGGGGCAGGGACGGGGGTAAAGAAGTCAGTGATGGATATATGAGTTTCACAGGATTACTGGACATTCCAGGGGATTAGTTGACTCTGTCAGTCTGGATCTCTCTGGAGGAGAGGCTGGGTTGAAGATAGAGAACAAGGAGTTACTAGGAATGCAGTAACCTAATGGAATAAAGTGAAAAGAGATAAGGGTGGAGAATATGGAGGAGCAGTGGGAGAGAGACAGACACACAGAGACAGAGACTAGAAGAGAGGAGTATCAAAAAAGCAAAGGAAGGAGAAAACATCAAGAAAGAGAGTAGTCAAATTTTGCAGAAAGGTTCGATAAGGTATGCAAAATGTCCTTTTGATATAACAATCAAAAAATTGGGGCTGGTCCTAAGGTAGTTAATTATCTCAGTTGACTGTTCACAGTCAGGTACAGATCAAACTCCTATTCTACTCTTTCTCCCCTTCTCATTATTGACCTTGGGAACACTTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGTCGTTTCACCACATTAGCCAGGGTGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCAAAATTTTTTTAAAGTTGAACTGGGCACAGTGGCATATGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGCTGGGAGGATTGCTTGAGCCCAGGAGTTCCAATCCAGCCTGGGCAACATGGTGAGACTCCATCTCTTAAAAGAAAGAAAGAAAGGAAAGTTGATAGTCCTGGTAAAAAGCAACTTGAATGGAACATTAAGGGTAAAAGCAAAATTATAGTTGAATGATTTGGAGGAGCAAATAGGCCATTCGTTTCTAGTTCTTCCTTACAAAATTGGGTGCTTCTAACGCACAGAGACCGCGTCTTACATACCTTTCACTCTGCAGTGCTGTGCTTGACTTGTATTTATTTGATATTGTGTTTCTATTCATATAGCTCCAATCACTTGTTTATTTTAGCTTTTGAGCAGCCACTTCACACTGATGACTATTAAACTTTGAAGTCTTTTTCACATATATTTTTGTTGAGCTTTGTCATCCTCCAATCCTATCTTTGTGTGATTTGAGTTTGAGACCCTAGTACATTGCCTTAAATATTCATATTAAACATGTTAAATTCAGCCCATTATGATGGTTTTTCTGGGTTTTGTTTTTGGATTCTAGTTTTGTCATCTGAAATAACCCATTTTATTGTGTTTCTTATGTTTCTGTTTTTGTTTTCTAGTATAAAACAAGCAAAGAAGGGAGTGTAATGGGAGTTACAGTATCCCGGCTTGCAATGTTGTCTCACTGCCAAGCTCTGTCGCAGGCCTGCAATTATTCTGAAGGTCAGACCTCATCCCATGACTGCCCTCATTGTTACCTTCAGAGATGTGTGACTGTGAGCACAATGCTCAGTGATTGGACCTCATTTAATGACCGAATTCAGAGTGAAATGTCCCAAGACACATTCTTGGCTTGCTTTTGTTTTCTTCTTCTCAAAAATATGCTGTAGTTTAAAGGAACCAAAATTCTGGGCAAACCAAAATGTAAAGCATAATTTCTAGAGTACAGCAGTAGAAAACCCTAATTAAAATCCTGTTTTTGTTAGCTGTGGAATGGCAGGTATCTCCATCTTCCCCTGCCTGTATAGTGGGCTACCAGCTATACATTTGGAGTCAAAGAAATTCAGCTACCAAAAAGCATAAATTAAAACACAAAAATGTATTCGATATTTTTGAACTTTAGATAGGTTGATACATAATTGCATAAACCACTATTTGCCTCAGAATGTTCTTTGCAATATTAATTTTTTTAGTGTTTTCCCTTTATAAAATGAAACAAGTTAATAAATGGTCATGATAAAATTTTTAACCAGACAACAATGTTCTATCATGAAATTATATATATATACGCACACATAATGGAAGCAATCAAAATGCCCTTAAATAAGGATTGATTAAGTTATAATACATTCAGACCAGGCGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAAGGGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATAACAAAAAATGACCAGGTGTGGTGGCTTGTGCTTGTACTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCACTTGCACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATATATATATATATAATACATTCATATAATGGCTGGGACATTAAAATTTTTATTTTTGAATATTAAAGATATGAAGAAATTGTTTCAATGTATCATTAAGCAGGAACAAGTTAGATACCAAGCTTTGTATACCAGTTTGTCACATTAGATATCTATCTAGATGTAAATATGCCTAGAAGTATATGTGTGTGTATAGATAGAATGTTTAGAGATATATACATATACACACCAACTTTTTTTTTTTAGGAAGTATCTTTTAGGAAATTTATATTTGTCAAACTTCCCAAGTTTCTAAAATAAGCATGTATTCTCCGCATATTTAGGAAAAAAATACCTCTTGGAAGAAATGCCTAAGTCACAAGAAGTTTCTAACTCCTTGGCTCTGTTGTAACCACATTACCCTATGAGCAGTCCTCTACCCGTTTTGAGGAGACCCTCAAAAACCCGTGAGAACTTTTAGTCATTTCTCTAAAAACATCAAATCAGGCTGGGCGCTGTGGCTTATGTCTGTAATCCCAGCACATTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAACTCCCTCTCTACTAAAAATACAAAATTAGCCGTGCATGGTGGTGTATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGATCGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATTGCATCACTGCACTCCAGCCTGGGTGACAGAGGTGAGACTCCATCTAAAAGAAAAAGCAAACAAACATCAAATCAGTTGTTTATAAGAGGCAAGTGACATAATTTTGCTACTTAATACTAAAGATGATTTCTTTGTCTTCCTATTTTTTCTATTTTAG
Seq C2 exon
GGGAAACAATAGTAAATGTCTTAGACTTTAAGAAGGATGCTGGGCTGTGGCACGGCATGTTTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066084:ENST00000546732:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.077 A=NA C2=0.035
Domain overlap (PFAM):

C1:
PF0050123=AMP-binding=FE(16.8=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(4.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


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