HsaINT0049788 @ hg38
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13765976-13769136:-
Coord C1 exon
chr5:13768960-13769136
Coord A exon
chr5:13766180-13768959
Coord C2 exon
chr5:13765976-13766179
Length
2780 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCAT
5' ss Score
4.89
3' ss Seq
TCGTTCCTTTCATCCCCCAGACC
3' ss Score
10.37
Exon sequences
Seq C1 exon
GTCTTAAAAGAAGTGACAATGAAAGCACAGGCTGCTGAAAAGGTCAAGGCTGAGGTACAGAAGGTGAAGGACAGGGCCCAGGCCATTGTGGACAGCATCTCTAAAGACAAAGCCATTGCTGAAGAAAAACTGGAAGCAGCAAAACCAGCTTTAGAAGAGGCAGAAGCTGCATTGCAG
Seq A exon
GTGCATCTATGTGATATAACAGATGTCAGCTTTAGGGCTTAAGAGGCAGACTAATGCTAAAAAGATGAATAACAGCAAGGAAATGCTCTACTGGTTCAGATGAAAGCTCTATCCACTTGAGTGATTTCAAGTAATATTTTCTGCTTGAGACTTTATTAGCTCTTTATAGGTTTTGCCTGTTCTGCTTAACATCTCACACTCTTCACTCATCAATGTTGGGCAATGCCATATACTGGTGGCCAAGAGTCCTGGGTCCTCATTTCAACTCTGTCATCAATAAGCTATGTAATGTTGGAAAAGTTACATCAACTTTCTAAGGCAACATTCTCTCATTCATTCATTGAGGCCAATGGAGTAGGTGATCTGTAAGATACGACGTTTTCTGTCTATGAATTACCCAAATAGAGAGCTGCTGGTCTGATGTAGCACATTAATGAGAGAGTTTGAGCAGGCTTCCAACGCAATTAAACAGTACAATTGTGTATTAGTCTGTGTTCACACTGTATAAAGATGTTACCTGAGACGGGGTAATTTATAAACAAAAGACGTTTAATTGACTCAGAGTTCCGCATGGCTGGGGAGGCCTCAGGAAACTTACGATCATGGCAGAAGGTGAACGGAAGCAGACACTTTCTTCACAAGATGGCGGGAGAGAGATCAGGGGAAACTGCCACTTTGAAACCATCAGATCTCCTGAGAACTCACTCACCATCATGAGAACAGCATGGGGGAAACTGTCCCCATGATCCAATCACCTCCCACCAGGTCCCTCCCTTGACATGTGGAGATTACAGTTTGCGATGAGATTTGGGTGGGGACATAGAGCTAAACCATATCAAACTATGTGGCAATACACCAATGGCAAAATTACAAAAGAGGTTGGATTTTGAGAAAATGAAATGAGTTTAGTGAACTAGGCCACACCTTAAAGGCTGGTCCAGTTTTGAAGACTCACTTTTACTAAGAAAGTTCCAGGTATGTACAAACTCTTAACATTTTGACATCAGGTTACATAAATCCATACAACAAATAAGACAACAAATCTTGTGCAAAGAATGTGTCTCTTCCTATCTTGATATTAATGTGACTTTAACCAGCTCAGAGCAAAAATAAAAAATACCTCCAGATGTTAGATAACTGTTCTATTGCCACAGCATATAGGAGATTATATAACAGTCATATTTCTTGGCCTGCAGAAAAGAGAGGACTTTAATGCTTAGGTGAAACAGGTTGAGTTTTTGTTCCCCTCTCCAACCTCTTTTACCTGGGCATCTAACACAGCTGAGCACCATGCTGTTTGAAAATTATTTTTAAAGCTAAAGTAAAGTAAGCATGCCTAGCCCTTACATTTTATATAACTTTAATTTGACCCTACCCTACTTTCCTCACTGGCTGCTGTTCTATTTTTCTCTTTTCTTTTATAACTGTGCACCTCAAATAAAGGTCTGTTTGCCATTTTCAGTTCTCTACTACACATTCACCCTAACTTCCAGCTGTCTGGCTTTCATAACTGCTAGTATTAATATATTAAAACAGGCTGGGCATGCTGGCTCACGCCTGTAATTCCAGTACTTTGGGAGGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCCCGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATTACGCCAGTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAGGTCTCAAAATAAAAAACAAAAGCAAAACTATATATATATACAAACCTTTTCAAGGTATGTAATTACATTCCTAATTTACCAAGTTTAGTGTTTTTTCTTTGTCCTCAGTCCTTGGAGAAAAAAATCATTCACTTTTATGTGAAGGTCATTGGTTACTGTCTTTTGATAGAAAGGATGCAAATACAAACCAGATGGATGTTTTGAAGATCTGGAAGGAAGGAATATATACTATTTGTCTTAGAGATAGGATTGTTTCCAATTCTTACATTTAACACTTTTTCAATACTTATTCCATAGTGAGTTTTAGGTGATTGAGCAGTTATTATCAACCAAAACAGGTGTATGTGACTATTAAATCATTTACTCTATAAGTGTATACATACTAGAAATGGAATGGAACTTTTCTAAGAGAGAGCTTAGTAAAATTCTTATTGCTCAAGTCCCGTCATTTAAAGGTCAGTTCCTAGCTAAGAAACCTCTAATTATTCAATCTGTCAGCCCTGTGGCTACCCTCTGGTGTCAGTCCACAGTGACGAGCCTGAATTGTTTAAGAGAGAGAGGCAGATTCTTGACCTACATAGCTAATAAGTAAAAAAGCACCACAAATACTGTAATTTTCCTGGTTTTGAACCTCGAAATCTACTTATGTGCTGACTATTCTTTTTCTTTCAGATTATGCCTTTCTTTTTTCTGGCACAAAGCCATCTGTGCACTTTTAGAGAAGTCACAGCTCCTTATCTGCTCGCCAACATTTCTTTCCTGTCACTGCTAGTTTGAATAGTAGAAATGTGAACTTGTTGGGACATGGTGTTTCTTTGGGATTAAATATGCATCTAGACCCTGTGGCCTGCATCTAACTTAAAACAGTTTTCTGTCCTCTGTTGAAATAGCAGCATTTGGACATGCAAGGTTTGCTTGTCTGTGCTTTCCTATCTGTGGTTGGGTGATCGTTCCTTTCATCCCCCAG
Seq C2 exon
ACCATCAGGCCTTCGGACATCGCCACTGTTCGCACGTTGGGCCGCCCCCCTCACCTCATCATGCGGATCATGGATTGCGTACTGCTGCTGTTTCAAAGGAAAGTCAGTGCTGTGAAAATTGACCTGGAAAAAAGCTGTACCATGCCCTCCTGGCAGGAATCCTTAAAATTGATGACTGCAGGGAACTTTTTACAGAACTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:58
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.017 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=FE(16.6=100)
A:
NA
C2:
PF127772=MT=FE(19.2=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:
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development