HsaINT0049173 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52371946-52372387:+
Coord C1 exon
chr3:52371946-52372086
Coord A exon
chr3:52372087-52372226
Coord C2 exon
chr3:52372227-52372387
Length
140 bp
Sequences
Splice sites
5' ss Seq
CCCGTGAGC
5' ss Score
3.59
3' ss Seq
TGCCATCCCCGCTCTGCCAGGTG
3' ss Score
9.24
Exon sequences
Seq C1 exon
GTTGCCTGGGTGAAGTGGATGGACTCCTCAGCTCCATTCACCATGGTACCAGACACCAACTACTGCAACATCATTGTGCCCACCATGGACACCGTGCAGATGTCCCATTTACTGGACATGCTGCTCACCAACAAGAAGCCC
Seq A exon
GTGAGCACCCCCCCAGGCCCTGCCTCCACTGTCCCCAAGGCCTATATTGGGGGTTGACCAGCCTCCCACATGGATGCAGGGGCAGCTCCTCCTGTGCACCAGGCCCACCGCATGCTCCTGTGCCATCCCCGCTCTGCCAG
Seq C2 exon
GTGCTGTGCATTGGGCCAACAGGCACGGGGAAGACGCTCACCATCTCTGACAAGCTCCTCAAGAACCTGGCACTGGATTACATCAGCCACTTCCTCACCTTCTCAGCCCGCACTTCAGCCAACCAGACCCAGGACTTCATTGACAGCAAGCTGGACAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:42
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=0.019
Domain overlap (PFAM):
C1:
PF127752=AAA_7=PU(12.0=72.3)
A:
NA
C2:
PF127752=AAA_7=FE(18.7=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:
GGGTGAAGTGGATGGACTCCT
R:
GGGCTGAGAAGGTGAGGAAGT
Band lengths:
243-383
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