Special

HsaINT0049715 @ hg38

Intron Retention

Gene
Description
dynein axonemal heavy chain 3 [Source:HGNC Symbol;Acc:HGNC:2949]
Coordinates
chr16:20985077-20987448:-
Coord C1 exon
chr16:20987305-20987448
Coord A exon
chr16:20985716-20987304
Coord C2 exon
chr16:20985077-20985715
Length
1589 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
3' ss Seq
GAGATTTACTTTTCTTACAGGTG
3' ss Score
8.76
Exon sequences
Seq C1 exon
GATGTAGAAAAATGTATCCGGCTTTGGATCCATGAGGTTTATCGGGTCTTCTATGATCGTCTGATTGACAAGGAGGACAGACAGGTCTTTTTCAACATGGTGAAGGAAACCACCTCCAATTGCTTCAAGCAGACCATAGAGAAG
Seq A exon
GTAAACCAGATTCTGTGATCATTTGACCTCAGAAATGGTTCCAAGTGTTTAACCACGTTACTTTCAGATTTCAGGTTCCCTTCCTGTTGGAGACTGCCAGCTCTGCACTCTGAATCTCGGGAAACAGTATTGAGTCAACTGCTCTTTTTGACTTGGTGATATTTTACTTGGTCCAACTTTGCTTCCCTTCTGTTGTAACATATAAGTTTGAATCCACTCAAAATGGCTTAACATGCATTTTAAGTTCATTATAAATGAATGTTTATTATGAACTTAAAATGCATTTTTAGGATCAATTAATTGGTGAGTTGAGAAATGAACTGTACATTGTCATGATTTGACTGAGGTCCTATAAAGCTCAAGTGAAAGATTGTTATGGTTTTCCAGGTGTGAATATTTTCTCTTTTCCATTTCCATATAAGAAAAGTTGTTTTAAACATCTATATTTTTATCATCTGGTTATTCTTCCACTGCTAAGAAGCTGTGATTTCTCCATAGAAAAATTTCAAGTGTTTTATCTTGCGTTCAGAGGCCAAGTGCAAAAGCGTCACTGGGTTCTAACATAGGACGAGGAGGCATCTAAAACGTTCCTACTCCAGGCACAGAGTGGGGACCAGGATAGTGTCTATACTTCTATTTGGTGGAGGATCAAGCACCTAAGAAAAGCACATCCTTCAACTGTCTTTTCTGGGGACCGTACAAACTGATCACCAATGTTTTAATCACATGGCAAATAGACTGATTAAAGCGTTCATACTCTAATGTCCTTTCTTTTAACAAAAAAAATATTTATTTTTAGAGGTAGGACCTCACTCTGTCACCCAGGCTGGAGTGCAATGGTATGATCATAGCACACTGCAGCCTCAAGCTCCTGGGCTCAAGCAGTCCTCCACCTCGGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACGATGCCCAGTTAATTTTTTCTTATTTTATTGTAGAGACTGAGTCTCACTATGTTGCCCAGGCTGGTCTTGAAGTCCTGAGCTCAAATGATCCTTCTGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCGTGCCCAGCAATGTTCTTTCATTATAGTCTTTACAAGCATGAAATCCACATATTATGTTTAAAAAACAAAAAGACTGGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACGAGGTGGGCAGGTAACCTGATATCAGGAGTTTCAGGACCAGCCTGGCCAACATGATGAAACTCCATCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGTGGGTGCTTGTAATCCCAGCTATTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAACCGAGATCACACCATTGCACCCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACGAAACAAAACAAAACTGATGACCCATGACCTTGAAGGATGTGCTCAGAGGAAATAAGCCACGTCTCCCATGCCCTCCCTCCATGATGTCCCTACCAGCCTGGCTGGGCCATTCACTGAATGCCCCGCCGAGATTTACTTTTCTTACAG
Seq C2 exon
GTGCTTATCCACTTGTCACCCACTGGAAAGATAGTCGATGATAACATTCGAAGCCTCTTCTTTGGAGATTATTTCAAGCCAGAAAGTGACCAAAAAATCTACGATGAGATCACTGACCTGAAACAGCTGACTGTGGTCATGGAGCACTATCTGGAAGAATTCAACAACATCAGCAAGGCCCCCATGTCCCTGGTCATGTTCAGGTTTGCCATTGAGCACATCTCTAGGATCTGCCGTGTCCTGAAGCAGGACAAAGGCCACCTGCTCCTGGTGGGCATAGGGGGCAGCGGGCGGCAAAGTGCCGCCAAACTGTCCACATTCATGAACGCATACGAGCTATACCAGATTGAGATCACCAAGAACTACGCAGGCAATGACTGGCGAGAAGATCTTAAGAAGATCATACTGCAGGTCGGTGTGGCCACCAAGAGCACCGTGTTCCTCTTCGCCGACAACCAGATCAAGGATGAATCATTCGTGGAGGACATCAACATGCTTCTGAACACAGGTGACGTGCCTAACATCTTCCCTGCTGACGAGAAGGCTGACATCGTGGAGAAGATGCAGACTGCAGCCAGGACCCAAGGAGAGAAGGTTGAAGTCACTCCTCTTTCTATGTATAACTTCTTTATTGAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000158486:ENST00000261383:47
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=0.005
Domain overlap (PFAM):

C1:
PF127752=AAA_7=PD(4.1=22.9)
A:
NA
C2:
PF127802=AAA_8=PU(58.9=74.6)


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
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCTTTGGATCCATGAGGTT
R:
TGTGCTCAATGGCAAACCTGA
Band lengths:
346-1935
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