Special

HsaINT0049727 @ hg38

Intron Retention

Gene
Description
dynein axonemal heavy chain 3 [Source:HGNC Symbol;Acc:HGNC:2949]
Coordinates
chr16:20941401-20944663:-
Coord C1 exon
chr16:20944496-20944663
Coord A exon
chr16:20941544-20944495
Coord C2 exon
chr16:20941401-20941543
Length
2952 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACT
5' ss Score
8.63
3' ss Seq
TCTTCTGCCTGCATTTTAAGGAA
3' ss Score
8.99
Exon sequences
Seq C1 exon
TCCTATATCGACTATCTCAGGAATCTCCCCATCACAGCCCACCCAGAAGTGTTCGGCCTCCATGAGAACGCAGACATCACCAAAGACAACCAGGAAACCAACCAGCTGTTTGAGGGGGTCCTGCTGACCCTCCCTAGACAGTCAGGAGGAAGTGGCAAGTCCCCTCAG
Seq A exon
GTAACTGGGCTCGGGAAAGGGGGCTTAATCCTATTTCCCAGGCAGTTCTTCATCCAGTGGGCACACAGGATTGGAGGGTGACCAAGAGGCAGAGAGTGGGGGCCTGGCAGCCTCCTGGCCAAGGGCAGGGAAGGAGCACTGTGGCCTTACTGCCGGGAGTCCTTATATCCAGAGCTGCAAGGGAACCAGTGTTTCCAAAATGTCAGCTATTCCTGTATAACCTTCATGTTTTCTGCTATATCCACCTATCACCTATACTCCATTTACATAATGGGTTTTATTCTTTTTTTTTTTCTTTTGCTTTTTTTTCTACATAATGTTTTAAAACTAACTCTCTTTTTTTTTTAATTTAAAAGATTGCACATCAGAACCATAAGTGGAAACCCAGTATCATTTCCATAAAGTCATGATACGCACAAAAAGAAAATGAAAGCTGAACAGTGAACAGTTGGTGTTTTTTGGTTTCTGTTTGTTGTTGTTGCTGTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACACGGTTTGGCTCGGTTACCTAGGCTGGAGCGCAGTGGCGTGATCTTGTCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACATGCCACCATGCCCAGCTAAATTTTTTTGTATTTTCTGTAGAGACAGTGTTTCATCATATTGTCCAGGATCGTCTCAAACTCCTGGGCTCAAGCAATCTGCTTGCGTTGGCTTCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCGTTAACAGTTGTTAAGTTCTTCCCAGATGATGTTGCTGGCCAAAGCCCCTGAGCTGAGGCTTTGCTGGCTTCTTGTTAAAAGGAGAAAGATGTGTGAGTGTCAAAGAATTGGCACTGACCCGAAACTGTCTTTTTGAGAGGAATGAAAAGAGAAAGATGGTCAGAACTGGAAAAGAGGCCAGGTGCAGTGAATCGCACCTGTAGTCCCAGCACTTTGGGAGGCTGAAGCAGGAGGAGCACTTGAGGCCAGGAGTTCGAGGCCAGCCTGGGCAACATAAGGAGACCGCATCACTACAAAAAAATTTTTTTTAAGTTAACCGAGGGCTGGGTGCCATGGCTCATGCCTATAACCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTGAGCCAAGGAGTTGGAGACCAGCCTGAGCAACATAGCAAAACGCCGTCTATACAAAAAAAAAAAATAGCTGAGCTCAGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGTGGGAGGATCGCTTGATTCTGGGCTGTTGAGGCTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACCCTGTCTTAAAAAAAGTTAACTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTAAGGGGGCTGCGGCAGGAGGATCACTTGAACCCAGGAGGTCGAGGCTGCAGTGAGGCTGTGATCACGAGGCTGTGATCATGCCTTTGCACTCCCACCTGGACGACAGAGTGAGACACTATCTCAAAACAGTAACAACAACAATGAAAAAAAACCCAAAACCTGAAAGAGTAACTTTCTCACCATGTGACTCAACATGATTTTTCTGTGTCCTGGAAACACCTAAAATCCTGGGTACCTCTAGTAGTCCCAGTGCACTCTTTGTGATGACCTGACCCAGGCCACCCTCCTAAGTCTACAAATGAAGAGAGAAACAAATCCTGAGAGAGAAAGTGACCGGCTTCCAGGCTTTCATAAAATCAAGGACGGAGCCAGAACCAGAGCCACCGTCTCCTGACTCCACCCGCTTCCTCTCCCATCCCTTCCCTTCTCCACCTTCCAAGCTACCTCCTGTTTAACCCCTCCCAACTGTAGAATTTGCTAATTTGCTTTCATGATTTGGTTCCTAGTGCCATTAAGTATCACTGGTATGAAGGTAAACCAGCCTGGTTGGTGTATCCCGATGTAGGAGTGGAAATTCCCCTCACAGTGGGAAGAGGGAAAGAATTATACATCCCAGCCTCCCACATCCACAGGACCACAGGGTGTCTGTCTCTCCCACACTCAGGTCTTGTTCCTCCTTGAGCCTCGAGGCCTGTCCCCTCCCTACTTGGCTAAGCTGAGGGTTCTGTGCTTTTCTTGCTCCAATGCTGAAGAATGGCCTGCTGCTTTCCCAGGTGTCACGGGCACTGAGAAAGGGCCCCATGGCACCAGGAGCTAATCCTCAGGGGTCAGAGGCTGTGGGAGATTCTCACCTGGGTGTGACATTGAAGACAGAGGCTTAGTGCTGCCCTGAAGCTACCTGGCTGAGCAAGAGTTCCCTTCCTGGCCCTTCGGCTCTTGCCTGAGGTGTCAGGACACGACTCTTTTTTTTTTTTTTTTTAACTTTTAGACAGGTGTTCCTCTGTCACCCAGGCTGGAGTGCAGCGGCCAGATCTCAGCTCACTGCAACATCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAATAGCTGGGACCATAGGCATGCAGCATCATGCATGGCTAATGGCTAATTTTTGTATTTTTTGTAGAAACTGGGTTTCGCTATGTTTCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCGATCCACCCACTTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCTCTGCCAAGGACAGGACTCTACTCTTCTGGACCAAGAGGCGATGCCCTCCCCAAGGCTGGTGGGGTGATGAGGGACTCCTTTCCCCACTGGAGGCAGAAATGGCTTCTGTTGGAGAGTTCTCAGGAAAGTCCCACAGAATACATTTGAAAAGTCAGATGCTCAGTACTTAAAGTTTATCCAAAGCCACAGCCTGTAGGGCTTGCTTCTCACTCACCTCTCTTCTGCCTGCATTTTAAG
Seq C2 exon
GAAGTGGTTGAGGAGTTGGCACAAGACATTCTCTCCAAGCTTCCCAGAGACTTTGACCTGGAAGAGGTCATGAAGTTGTACCCCGTGGTCTATGAAGAATCCATGAATACCGTCCTAAGGCAGGAGCTCATCAGATTCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000158486:ENST00000261383:58
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.161 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(14.1=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(12.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
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