HsaINT0049171 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52370477-52370825:+
Coord C1 exon
chr3:52370477-52370635
Coord A exon
chr3:52370636-52370717
Coord C2 exon
chr3:52370718-52370825
Length
82 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
CTCCTCCTGGTTCCCGGCAGCTG
3' ss Score
9.24
Exon sequences
Seq C1 exon
GGCCTCAAGAAAATACCCTCTGAAAAGCTGAGTCGCATCGTAGAGTTGATCGAGCCCTGGTTCATCTTCTCCCTGATCTGGAGCGTGGGTGCCACTGGGGACAGCAGTGGCCGCACCAGTTTCAGCCACTGGCTAAGGCTCAAGATGGAGAACGAACAG
Seq A exon
GTGAGAGCCGGCGGCCCCCAGGGACCAGGAGCCTCAGTCCTACTGGGCCTCACAGCCTGCTTCTCCTCCTGGTTCCCGGCAG
Seq C2 exon
CTGACTCTGCTTTTCCCAGAAGAGGGGCTGGTGTTCGATTACAGGCTGGAGGACGCGGGCATCAGTGGCACCAACGACAGTGAGGATGAAGAGGAGGAATACAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:40
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=0.139
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
AGCTGAGTCGCATCGTAGAGT
R:
CTGTAATCGAACACCAGCCCC
Band lengths:
178-260
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