HsaINT0049206 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52396618-52397044:+
Coord C1 exon
chr3:52396618-52396797
Coord A exon
chr3:52396798-52396867
Coord C2 exon
chr3:52396868-52397044
Length
70 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGC
5' ss Score
7.93
3' ss Seq
CTCACCCACCCACCCCATAGGTC
3' ss Score
9.75
Exon sequences
Seq C1 exon
GTGATGGAGTTCAAGTCTCTGCTGCTGTCTCTGTGCTTGTTCCATGGGAACGCCCTGGAGCGCCGTAAGTTTGGGCCCCTGGGCTTCAACATCCCCTATGAGTTCACGGATGGAGATCTGCGCATCTGCATCAGCCAGCTCAAGATGTTCCTGGACGAATATGATGACATCCCCTACAAG
Seq A exon
GTGGGCCTGGGGCAGACTGGGGCCTGGGGGACTGGGCACTTAGGGGAGCCCTCACCCACCCACCCCATAG
Seq C2 exon
GTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:71
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:
PF0302810=Dynein_heavy=FE(13.1=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(12.9=100)
Main Inclusion Isoform:
NA
Other Inclusion 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:
CATCTGCATCAGCCAGCTCAA
R:
AGAGCACGTCAGGGTTGTAGA
Band lengths:
170-240
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