Special

HsaINT0049779 @ hg38

Intron Retention

Gene
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13920480-13922328:-
Coord C1 exon
chr5:13922107-13922328
Coord A exon
chr5:13920618-13922106
Coord C2 exon
chr5:13920480-13920617
Length
1489 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
TTAATTTTCATTCTAATTAGGTG
3' ss Score
8.97
Exon sequences
Seq C1 exon
GAGGTGAGTTTTAACATGTTAGATGCGGCAGATGGAGGCCTGCTCAACAGTGTGAGACGTTTGCTGTCGGACATCTTCATTCCTGCTCTCAGAGCCACGAGCCATGGCTGGGGCGAGCTCGAGGGCCTTCAGGACGCAGCTAACATTCGCCAGGAGTTCTTGAGCTCCCTGGAAGGCTTTGTGAACGTCCTGTCGGGTGCACAGGAGAGTCTGAAGGAGAAG
Seq A exon
GTGAGGACGAATAAGCTGTTCCTTTAAAAATGATCAGGTGGTCAACAAGCACAGTACATAAGTGTGTAATGCTTCTCTTAGATGGTCTTAATTCCTCTATGTTTCAGTTCTTCAAAAATTTTTGTAGGCAATTTTATTGCTCCTTCAAGATGTGGTGGTGATTAGATTTAAATTTCTACAGTTTGTAATGATCAACACATTCAGGGGTTCCATAAAAACGTTGGCAGTGTTGTAGGGCTTTACTCAGTCAGTCAGATGAGTGACTCCAAAGGCAAGAGTCAGAAATGCTTGTGGCACTGCTGTGCATCCTAGAATGAAAGGAATTTGGAACTGAAGTGTGTGTGTGTGTGGGGGGGTGTGTGTGGGCGGCAGATGGAGGTGGGAAGAGATCCTGAAGAAGCAGAAGAAGGAAAGAGGAATTGATATGTTTGGAGAGAGCAAGTCTGATCCTGTGATTCAGCCAATGATCAAAAGGGCCTTTAAGAATAATTTTGGCAAAGGTGACATTTAGTTTCTGTATGATTTGTGCTGTTTATAATAAGTCTGTGTTTGTGATTACTTGGGGCAGAGGTTGATGGATGTACGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGATAGAGCAAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGGGAGAGAGAGAGAAGATAAGGTAATAAGAGAGATGACAGAGCCCAGATCAGGCATGTAGGGGCAGGTAGGGAAATGGATCCTATGGTAATGATGACAGTGTGACACTCTGCCCTCCTCTCCCAGGAATGCTGATCCTGCTGGGATTGGGGAAGGGGCATTACGCTTTCCAAAGGATGTGGAATGGGGGAGTTAAGCAAATTTTATCCAGACAGACACAGGATGACTCCAGCTAACACCCAAATTATATTTGTGATTGACTGTGATGGAGGGCAGACCAAATTGCAGGTTGGACCAAATAAAATTGTTGGCATTCTACATGTTGAAAATTTTTTTTAATTTTATTATTATTATACGTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGAATAAAGCAAACATTTTTACTACTAAAAAAATAAAATTGCTGGCATTCTATCTAAAAAAGCAGTGTTTTTTTCATATGGGTCCACTTCATATTGCAATAAAAGTATTACCAAAATGGGATGGGTCCCCAGGTGGGAGGAGGCATTCTTTCTGAGTGGGAGAGGGCAGTGGGCTTTGGGTTGAATTGTGAGGTTGTGTAGGATCACAGGGAAGTGTTGGAAGGTCCCATCAGTCTGGGGGCAGCGTGGACAAAGGCACGTGGGAGTGGAGAGGAGGTATGTGCTACCTGGTGGGCTTTCCAGAGCGCTGTCAGAGTGCAGCAAAGTGGAAAACACAGGGCCCACAGTCTGTGTGTTTTACAAAAGCATCATCTGATTATTTAATTTTCATTCTAATTAG
Seq C2 exon
GTGAACCTTCGAAAGTGTGACATACTTGAACTGAAAACCCTAAAGGAACCTACGGACTACTTGACTCTAGCAAATAACCCTGAGACTTTGGGAAAAATAGAGGATTGCATGAAAGTATGGATCAAACAGACAGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:5
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:
NO
A:
NA
C2:
PF083857=DHC_N1=PU(3.6=43.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTAGATGCGGCAGATGGAGG
R:
TGTTCTGTCTGTTTGATCCATACT
Band lengths:
342-1831
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