HsaINT0049165 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52366457-52366887:+
Coord C1 exon
chr3:52366457-52366548
Coord A exon
chr3:52366549-52366732
Coord C2 exon
chr3:52366733-52366887
Length
184 bp
Sequences
Splice sites
5' ss Seq
ACTGTAAGC
5' ss Score
4.95
3' ss Seq
TCAGGCGGTCCGTCTCCCAGTGT
3' ss Score
5.8
Exon sequences
Seq C1 exon
GCTTCCTGACAAAGTGCATCCAGCTCTACGAGACCACGGTGGTACGACACGGCCTCATGCTCGTCGGGCCCACAGGCTCCGGCAAGAGTACT
Seq A exon
GTAAGCAGAGCCAAGCTTGGCAGCCAGTGTCCGGATAGTGGGCCTGTAGGGGGGTGCAGCTTCAACAGGGGTTGGCCTCCATTTGTGCCCCTTGGCATAGAATACCCCTCCCCCTCCCCTTGGCCCCCAGCCCACTCTAGCCCTGCTCTCTGGGAGCCTCACTCTCAGGCGGTCCGTCTCCCAG
Seq C2 exon
TGTTACAGAGTCCTGGCAGCTGCCATGACGTCACTGAAAGGGCAGCCATCCATCAGTGGTGGCATGTACGAGGCTGTCAACTACTACGTGCTCAACCCCAAGTCCATCACGATGGGCCAGCTGTACGGGGAGTTTGACCTCCTCACCCATGAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:35
Average complexity
IR
Mappability confidence:
NA
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF077289=AAA_5=PU(8.8=41.9)
A:
NA
C2:
PF077289=AAA_5=FE(34.7=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:
TCCTGACAAAGTGCATCCAGC
R:
CTCATGGGTGAGGAGGTCAAAC
Band lengths:
242-426
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