HsaINT0049790 @ hg38
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13919176-13920617:-
Coord C1 exon
chr5:13920480-13920617
Coord A exon
chr5:13919353-13920479
Coord C2 exon
chr5:13919176-13919352
Length
1127 bp
Sequences
Splice sites
5' ss Seq
CAGGTAATT
5' ss Score
8.55
3' ss Seq
TTTTCCCCGCGCATTTGCAGGTT
3' ss Score
9.33
Exon sequences
Seq C1 exon
GTGAACCTTCGAAAGTGTGACATACTTGAACTGAAAACCCTAAAGGAACCTACGGACTACTTGACTCTAGCAAATAACCCTGAGACTTTGGGAAAAATAGAGGATTGCATGAAAGTATGGATCAAACAGACAGAACAG
Seq A exon
GTAATTTTGAGAAACCAAACATCAATTTCAGGTGCCACATTACTGCGCTAGACAATGGAAGAAGGTGTATTGACATACGACATTCCATTTGTTAAGCGTTTTACTGTAAATCCTTGAGGAGGTGAGAGGTCCAATGTGGTTTTCCTTTACTGTCATGAATTAAGAAGAGGTAGTAAGAATTCTAAGAAATGAAAGAAAATGGCTGCATATACTTATATCACTCAAACGCTGCACTTTGCCAGTTTCTTTTCTCAATGTCTAATTTACTTTGGAGAGAACCCCTGTAGAAGCATGAGGAGTTTTCTAATTTAGTATGTCCTCCAAAAGGGAGCTTGAGACTTCACCTTAAACACAAATTCAGAAAAGTCCTCAATGAAGGCATGAAGGTGGACATTACATTACAAAGTAAGCACAATTAAAATCCACTAGCCTGAGCCATGCAATTTAACAAGGCCATGTTCCTCCAAGGTTATAGAGTAAATGAATAGCCAAGAAAAATTCCTGAGGTCATGGCCTTCAGAAGCTCATTACAGCTCATTAAATAGGTAGTTTTTGATTGCAGATTGGGTGACCGTAGTTAGCAACAGTATACTGTATATTTCAAACTGTTAGGTTGGTGCAAAAGTAATTGTGGTTTTTGCCATTACTTTCAATGGCTAATTACTTTTGCACCAATCTAATACCTAGAAGAGAGGACTTGAAATGTTACCCACACGTAGAAATGATAAGTACTCAAGGTGATGATACCCCAAATACTCTGACCTGGTCATGACACATTCTACATATATAACAAATACTCACATGTACCCCATAAATATGTAAAATAAGTATCAATAAAAGAAAAAAGTATGAATCAAAAATCTTTAAAAACCCCCCAAAATATAAACTATTTTCAAAAGAGGAAAGCATAAGTTGTTTTCAGTTAAAACAATTCAAAGAGATTTTCGTTGAAGTTTTAAAAATGGATGCATGCTAAGTGAGTAAAAGATTGTTATTGGAAGCATGGAATACGCATATATCATGATCCAGATAGGATAATTGATTTCCTTATTTGTTTTTTGCTTGTTTATAACTTTAGCGTCTCCAGCCCCGTGCAATGGCTCGTGTTTTTCCCCGCGCATTTGCAG
Seq C2 exon
GTTCTTGCTGAAAACAATCAGCTGCTGAAGGAAGCGGATGACGTTGGGCCACGAGCGGAGCTGGAGCACTGGAAAAAAAGACTCTCCAAGTTTAACTACCTTTTGGAACAATTGAAAAGCCCGGATGTGAAGGCTGTGCTGGCAGTGCTTGCGGCGGCCAAGTCGAAACTGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:6
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=0.017
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=PU(3.6=43.5)
A:
NA
C2:
PF083857=DHC_N1=FE(10.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAACCTTCGAAAGTGTGACA
R:
TTCAGCAGTTTCGACTTGGCC
Band lengths:
314-1441
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