HsaINT0049756 @ hg38
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13859452-13862747:-
Coord C1 exon
chr5:13862548-13862747
Coord A exon
chr5:13859606-13862547
Coord C2 exon
chr5:13859452-13859605
Length
2942 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGA
5' ss Score
6.71
3' ss Seq
AAACCTATTTCTTATTTTAGGTA
3' ss Score
9.05
Exon sequences
Seq C1 exon
GACATCTGTATCAGTGCGGTGAAAGAGAGAGACATTGAGCAAAAGCTGAAGCAAGTGATTAATGAATGGGACAATAAAACATTCACCTTCGGCAGCTTTAAAACCCGTGGAGAGCTCCTCTTGAGAGGAGACAGTACCTCGGAAATCATCGCCAACATGGAGGACAGCTTGATGTTGCTGGGATCCCTACTGAGCAACAG
Seq A exon
GTGGGAAAACCATCTATCTTTTCCCTTAGATTTGAGAACCGTAATAGCAAACATTTAAAATTAATGAAAAATCCATTACAATAATAGCCTTCATATAGTTTACTCAATGTTGAAAATACTTGTTTTAATTACATTGATTAATTAATTTTTATATCCAAAACATATTTTTACTCAGGTACCCACTTATATATACATCATCAAGAGATTATATTTCAATTATTCTTGTTTTCATTTTGGCCTCAGGCACATGTTAGAGCATGTGTAACTCTGGTTTTATTTCATTATCCTCTATTTGTGGGGTATGTCTGAGACCATCCACTGGACAAAATAATGCAACGTATAATTAGCCACTCGGCTCTTGGGAACATTTCAGCTTGCTGCTGACAAGCCTGACTGCACAGCTCATAGCTCTACAGGCTGTAGAATCCAGGAGGAACATTATTTTGAATTTCAGAATAATCATTTTACTCGAAAAACCTTTTTTACCAATATCTGTGGACTAGAAACTCTTAGTTGTTTACATACTCTATTTTTTATATTTGTACAAATTTATGGGGTACATTTGAACTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGAAACCTCAGCCTCCCTGGCTCAAGTGATTCTGCCGCAGCTTCCTGAGTACTGGGATTACAGGCAACAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGTCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAATGCTGGCATTACAGGCATGAGCCACTGTGCCTGTCCACATGTGAACTTTCATTACATGTATATAATGCATAGTGGCCACCCCTCACATTTTGGACATACAAACCACACAGTCATGAATTTACATTTCCTTGTTTCATTGCTTCCATTTGCTCTTTCTGAAATAATGTTTTTGTTCCCCAGAATCTTCTCAAATATATGGTAATTGTGCAGAAAGTGGATACCATTGAGATATGAATTTGTTGTTCTATTCTAGCTTTAAAATATCACCCAATTCTCCATATATATGTGTATCAATACTTTTAATGTTGGAAATACTGTGTACTTCATACTATTTCAAAAAAATTTCTCTTATTTCAGTTTACTTGTTACACTAAAGTAATATTGGGATATAAAGTTAGACCATTAGTAATCTTGAGTTTGGACTTCTCAGGATTTAGTGAGTTTTAATGAACTTGGTTACTATTCATACCAAACCAGAATAAAGGATAGACAGGCAATAATATACCCTAGGGAGATAGAAAAGACACTCATGTAAATTAAGTAAAAATTATCTGGTTGGGGTGGGGAAACTTTTCTTTTCAATGGCATCTAATCTACAGATAGAGTTATTGGGAGGAGTATTTTTTCAATATATATTTATTGAACCTTTACTATGTGTGTGATGTACTCTTCTAGGCGCTGTGGGTAGAACAACAAATAAGGGAAAGATCTCTGTTTCTATGGACCTATATTTCTAGTGAAGAGCATACAAATATTCAGAAAGATGCATGGAATATTAAAACAATTTGGTTAACAATTAAGAATATGGAAATTAAACTTTTATGCAATAATACGACTTCAAGTCCATATTATGTAGGGCTAGAGAGAACCATGAAGGGATAAGAAAGAGAAGAAGAGACACAAAGGTAGGCTGTATAATCATTTAGGATTAAGTTTGTCTGTAAATAACAGAAACACCACATACAAAATGGCTAATATAACACTGATGTTTATATTGCTCACGCATAAAAGAATTCCTAATGTAGGTGGTTCAGGTTGGAATGGGGGCTTTACCACATCATCAGGGACCCAAGCTTGGTCTGGCTCACTCATCTGTCTTTCCCAGGTGTGACCTTATTCCCCATACTACCCATTACATCCAATGCCACTACTCACATTTCATGTAGAAGAGTTGTTCTCAATCTTTGCAACGTACCAGATACACTGAAGGAACTTAAAAAAATCCCAATGCCAGGGCCACTTCCCAGACCCATTGAATCAGAGTCTCTGTACGTAGGACCCAGGCAGGCATCAGTAATTTTTAATGCTGGCGAGATGATTCCAGTGTTCAGCTATGAGATCATTCCAGTGTTCCGCTAAATTAAGCACTGTTGATGTGGAACTTAGTCTTCTGACTGCACATTACTGCAAAGGGAAGCTGGGAAATTCAGTAATTTAGCTGGGTAATTATGAGCCCACATGGAAAAGCAGAAGGAAAAAAGGACATTGGGAGGCCACCCACAGGCAGTCTGTCTCAAAGAGGAAAAGGGGAAGACAGATTAACTATGGAAGAGGCAGTAATCTTGCACACATGTACATCAAACATGAGTGGGTTGGACACAGGTGCGTGGGAAGTTAGAAAGAGACTCAGAAAAGGGGAGGCTAAGGAGAGAGTCCAGGTGTTATCATATTTGAAGATTGAATTAGTTGTCTGGTCCCCACTGATGGTTCTATAAAAGCTCCATATTATATGAAAAACCAGAGACTCCATGAAATAGGCACAGAAGCTCAGTAGGGCAAATATTATTCTCGTAGCCATAGCAGCACTGAGGGTAATTATATTACCCTGGAAGCTTGGTGGAATCAAGTCTAATGCCTGATCTACTCCTTAGATTATAAATCTCCCACCCTTCTCTATGCTCTGGATCAAAAGGGAAAAAGCTAGACTAACAATGAACAGTAAGTGGGGATGAATTAATCACTTGGTTGCATCACTTTAAAAGCCAGCAACATAATTAAGGTTGTAAAGAAAGCGGTTAAAAATTAAGATTTTTAAAAACCTTTTTAATTTGAAACAACAGCACAACAAAAACAAAACCAAACCCTAAACCTATTTCTTATTTTAG
Seq C2 exon
GTACAATATGCCATTCAAAGCCCAGATTCAAAAATGGGTGCAGTACCTTTCCAACTCAACAGACATCATCGAGAGCTGGATGACGGTGCAAAACCTGTGGATTTATTTAGAAGCTGTCTTTGTGGGAGGAGACATTGCCAAGCAGCTGCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:29
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:
PF083938=DHC_N2=FE(16.0=100)
A:
NA
C2:
PF083938=DHC_N2=FE(12.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
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
- Autistic and control brains
- Pre-implantation embryo development