HsaINT0049200 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52394465-52395059:+
Coord C1 exon
chr3:52394465-52394661
Coord A exon
chr3:52394662-52394914
Coord C2 exon
chr3:52394915-52395059
Length
253 bp
Sequences
Splice sites
5' ss Seq
CCGGTTAGC
5' ss Score
1.83
3' ss Seq
GGTGTGGGCCACTGTTGCAGGGA
3' ss Score
4.3
Exon sequences
Seq C1 exon
AGTGAGTGGCGATACCTCCTGTCTGGGGGCTCCATCTCGATCATGACTGAGAATCCGGCACCGGACTGGCTGTCAGACCGGGCTTGGCGAGACATCCTAGCACTCTCGAACCTGCCAACCTTTTCCTCCTTCTCTTCCGACTTCGTGAAGCACCTCTCAGAATTCCGGGTCATCTTCGACAGCCTTGAGCCCCACCG
Seq A exon
GTTAGCTGGGCCCCAGAATATGGCAGGATGAGCCCATCGAGGGGATGAGTCCCTAGGAAAGGCTTGTCTGGGCGCCTTCTCTAAGGGGCCACCCAGGGTTGCCCTGTGGCTGTGGCCACATCTCCTCTGTGCCTCCAGTGCCATACCCCTGGGATAGCCCACTCTCCCCAGCTGTCCGGCTGGCCGAATCCCTGGGGCCACCAACCTCCTTCCAACAGGCTGGCTCTCAGGGAGGTGTGGGCCACTGTTGCAG
Seq C2 exon
GGAGCCTTTGCCTGGCATCTGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:66
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:
PF0302810=Dynein_heavy=PU(12.0=81.8)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(10.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGACTGAGAATCCGGCACC
R:
TTCAATGAAGCGTGGCTCCAG
Band lengths:
295-548
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