HsaINT0049755 @ hg38
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13862548-13864637:-
Coord C1 exon
chr5:13864397-13864637
Coord A exon
chr5:13862748-13864396
Coord C2 exon
chr5:13862548-13862747
Length
1649 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGAG
5' ss Score
4.86
3' ss Seq
AGAGCTTGCCATTTTGATAGGAC
3' ss Score
3.36
Exon sequences
Seq C1 exon
ATGTCGAAAGCTTCCCCGGGCCTTGAAGGACTGGCAGGCTTTTTTGGACCTGAAGAAGATCATTGATGATTTCAGCGAGTGTTGCCCGCTGCTGGAATACATGGCCAGTAAAGCCATGATGGAGCGGCACTGGGAAAGGATAACCACCCTCACCGGGCACAGTCTGGATGTGGGGAATGAAAGCTTTAAGTTAAGAAATATCATGGAGGCACCTCTTCTGAAATATAAAGAGGAAATAGAG
Seq A exon
GTAGAGTATGATGTGATGGAAGATTGCAAGGTCTCATGGGATTTATTTGATAACATTTCTATATTATGGAATATTGGATCAGTAAACTACACTCAGACAATTGAAACTCTTCTCCTGGCATTCAGCCACTAGTTCCTTCAACAAATGCTTATTTGGCCTAAGATGGGACAGATTCTGCATCAGGATATAACAATGCAGTCCTGCATTTACAGATTATTAAATAATTTTACAAATAAAGGCACAGTTATAAGCTGTGGCAAATACCATTGAATAAAATGTATGTTGTTCTGTGAAAGCCTATGGTAGATGAGTTTGGTTCACCTGGGGGTGATAAAGCTAGGGAGGACTAGGATGCATGCGTAGGACTGGCTGGGTGAAGGGAGTGTGGTTGTGTGGTTGGGGTGAGGGGCTTGGAAAGTGCAAAGAAGGCCATTCCAGGCAGATGGTGCATTATGCATGGAGCATCTGAAGTGTGTTTGAGGAACCAGAAGAAGGCCCATGTGGCTGAGGCGTGGAGGCAGGGCAGAGAGGAGACAGCAGAGGCCAGGGAGGTGGAGTGGGCCTACATGATGTTATCGAGCAATGGGCACCAGCTGGGAGGTGTGTTTTCAGCAGGGGCTGACATGGTTAGGTTGACCGTTTGTAAGGATCACTCTGGTAGTGATCTTTGGAGAAATAATTGAAGGAGGACAAGGGAAGAATGATGGAAAAACCAACTGAGAGTTTCTAAGAGTAGCTCAGGCAAGAAATGATGGCTTGTTAGATGAGAGGGGAAGTAGTAAAGCTGGAGAGGAGAGAAAGGATCAGGGATATTTGAGGAGAATTCGGTGATGAAGGGAACATGGTAGGAGAAGGAAGGGGAGGGCTAAAGATGAACTCTAGATTTCTTGCTGAGAGACCTAAGTGGATGAAGGTGCTGACCACAGAGATGGGGAACATGGGAAGGTGATCAGATTGGGTGACAAGGTGCAAAGATCATGGTCTTGATTAGGGACATGAGTCTGATATTTCACAGACTGTGTTTGGGGTTTCCTTGAAACATCTCAGCAGGGAAGTTCAGTAGGCAAATGGATGTGGGTCTTGCCTGGAGATATGAAAGTGATTGAAGTCATGGGTGTAAATGAGCTCACCCAGAGGGGGAACATAGGTGGGAAGAAATGAGGGTAAAGGAAGGGCTTGACTAATGGTCTAGGAGAAGGTTGAGGCCATGAGGAGACTGGGAAAGTCAACAGAGCCATGGGAGAATCAGGTTTCTGCTACCTGTGTTCATTCACATGCTGCATTCACTTGACTTTAGAGGTAGATCAGAAATACATTGAATTTTGAATCAGTGATTAAAGTTTCAAAATTTAAAAGTGATTTGCATATATTTTCTGTCATCTTTCCTTTTGGGCAAGTTTGCTGGGAAATTTTATAAATTAAAGTTCTATTTTTCAGTCATATCTTTATCTCCATCTCTCTTCATGCATCAGTATCTGCGTATACACCTTCTGTTTATTATATTGCATTTTAGGTCTGGAAATATAAAAGTTTATATATATATTTATATATATATGAAGCAAATAGTGAAGATGGGGTATTGCACGTAGACTATTAAGGAAGGACGTGTGACTTTCATGCAATAACATGAGAGCTTGCCATTTTGATAG
Seq C2 exon
GACATCTGTATCAGTGCGGTGAAAGAGAGAGACATTGAGCAAAAGCTGAAGCAAGTGATTAATGAATGGGACAATAAAACATTCACCTTCGGCAGCTTTAAAACCCGTGGAGAGCTCCTCTTGAGAGGAGACAGTACCTCGGAAATCATCGCCAACATGGAGGACAGCTTGATGTTGCTGGGATCCCTACTGAGCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:28
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(19.4=100)
A:
NA
C2:
PF083938=DHC_N2=FE(16.0=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:
TGATTTCAGCGAGTGTTGCCC
R:
GCAACATCAAGCTGTCCTCCA
Band lengths:
353-2002
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