HsaINT0049800 @ hg38
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13727507-13729560:-
Coord C1 exon
chr5:13729439-13729560
Coord A exon
chr5:13727657-13729438
Coord C2 exon
chr5:13727507-13727656
Length
1782 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACT
5' ss Score
8.63
3' ss Seq
TTATCCCATGGTATTTTCAGATA
3' ss Score
6.8
Exon sequences
Seq C1 exon
GAGGTGCCTCATTAGACCTTAAAGCTTGTCCTCCAAAACCATCAAAATGGATCCTGGACATAACATGGCTGAATTTGGTGGAACTTAGCAAACTCAGACAGTTTTCAGATGTCCTTGACCAG
Seq A exon
GTAACTGTGCTTTGAATCAACTTAAGCTGATGTCATGTTGAGCAGCTTTCTGATTTATCACTAGGTACAATATTTGTGGAAGAGAGATAGTTCTTAATATTGTCACTCTTAAAATGGTATTACATGTGCTTGACCTTCTTGAAAGCACACTTACACTCTGATAAGGCATTCTCTGCTCATCGTTAACTGATCTTGCAGGTAGAAATGTGCCCAGGAACTTTAACCAGTGCCATCCTGGGCCATATGTTAGTATCACCAATTGGATGTCCACAAGTAGAAAAACTGATAGATCCAATTAGATTAAATAATTAGATAGACTTAAAAAGCCTTTTCCTTCTTTCTAGAGGTTAAATGAAAAGACATATGAACAGCTTGCCTCTAAATGCTAAATTTCCTTTCTTGCCTCTTGTTTCTCTCCCTCTTCTTCTTCTTCCTCTCCTGCCCTTCCCATTATTTGACTTAGTTAGGCACCTGGGTATGAATCTCCTGTAAACACTTGGCCTCTTATCTTTAGAAGTTATCATCTTTCTAGAATCAGCCAGCTCCTGATGAACTTTGCATGTTCTGGAATCATGGAAGTTGGGTGTAGAGAATTGAATTGGGACAAGCCAAGAAACAGGTTATTGAAAATCAGGTGACCATAGAGAAATGAGTTTGGCAGCAGGGTGGCTTTATCCAGCTATAAGTTGAAGGCTTTTTTTGACGAGGAAATGTCTTAAAGTTGGTTCTTGACTTCCTCAGTTTAAGTTGACCATTTGCTTATGTTCTGCTATCCTTTTATGTTTTGGCTTATCACTGGTGGTGTTTATTATTACTACCATGTACTTAGGGGTACAAACCATTCTTTCGGGTTATTCCCCAATAGGATTACCCCCAGTGGCCTTGCCTAGACCATTGATATTGAAGTTGCTACCTTCTGGAGATGATATCTTATGCACGAAACCCCTCAATATTAAGTAGTCTTTCAAGATCGAAAGAAGTTATTATTTTTATTCTTACATGGTACTTTCTAAATATGAACCTGGAATGATTTGCCTTTGATTATATCCCAAGAAAGACATTGGAACCCTTGATGAAAAGGAATATACCAGATAACATAAGATGATATTTATCTGTAGACATTATTTGTTTGTTCAGTGTTTCTGATCTGCTTACCATGTAATTCCTGCCTCTCTTTGGTGTTTTAAGCTGCAGAGGATAATGTACTATGTCCTTTTACTCTTTCCCAGTTGCCTAAGGGTAGCAGGTGTCTGATCATTCATTTGATGATATTAACTGGCGTATTTCCAATTACTCTAGATTAATAGAGTATTGATCAAAAAGCTGTTCATTCAATAATAAACATGTGTTAAATGTCTTCTTTTGGGTCAGGAGTGGTCCTGGGAAATGAGGAAACATAAGTGAATGAGATTTGGTTCCTGACATGAGAAGATTTTGTGGAGCAAATCGGACTTCGTTGAAATAATGAAAATGAATTTCCATTGATTTTGTTGTATTCTTTACAAATTTGTTACCACAAAGGCATAGAAGAAATTAAATATCCCATGACTCTCCCTACTTTGAAATGTAGTTGTAGGCTGATGTTAGTATAGACTGACTTTGGAGCAAATGACATTAGATTTTACACTGTCAAACTTTCTATAATATAAAATAAAAAAATAGCCAAGGAATATAATTTACACATATCTGGAGAGGTCAGAGGTTTGATGAAACATATCTATGACCTGTTACTGAAAGATTGTTGGGTGGCATGACACAGTTTTTATCCCATGGTATTTTCAG
Seq C2 exon
ATATCGAGAAATGAGAAAATGTGGAAAATTTGGTTTGATAAGGAAAACCCGGAGGAGGAACCTCTTCCAAATGCCTATGATAAATCTCTTGACTGCTTCAGACGTCTTCTCCTTATTAGATCCTGGTGTCCTGACAGAACCATCGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:69
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:
PF0302810=Dynein_heavy=PU(20.4=82.9)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(29.3=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:
GGTGCCTCATTAGACCTTAAAGCT
R:
CTGGGCGATGGTTCTGTCAG
Band lengths:
270-2052
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