HsaINT0049156 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52359916-52360424:+
Coord C1 exon
chr3:52359916-52360079
Coord A exon
chr3:52360080-52360310
Coord C2 exon
chr3:52360311-52360424
Length
231 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
TCATCTCCCTGCACCGCCAGGTA
3' ss Score
8.02
Exon sequences
Seq C1 exon
CTCAGTGATCTGGTGGCCCTTGTGCGGGGGAAGCTGTCCCGCATGCAGCGGGCAGTGCTGTCAGCGCTAATCGTCATTGAGGTCCATGCCAAGGACGTGGTGAGCAAGCTAATCCAGGAGAACGTGGTCAGCGTGAATGACTTCCAGTGGATCTCACAGCTGAG
Seq A exon
GTGAGGACATGGGGGGCGCCCCCAGGGCCAGAGCAGCTGCCAGGAAGGGGCAGGGGAAAAGAGAAAAGTCAGTTAGCAATAAGCTGGTCTCTGTCCTTGAGGTTCTGGGACAAGCTGGGTATGGGTACCTTAATGCCCTCATTCCCAAAAAGAACCCTCTCTCCTTGACTATATACCCTGCCCAGTGGCCCATTGCCCCATGGCCAGGCCCTCATCTCCCTGCACCGCCAG
Seq C2 exon
GTACTACTGGACAAATAATGACCTGTATATCCGTGCTGTGAATGCTGAGTTCATCTATGGCTATGAGTACCTGGGCAACAGTGGGAGGCTGGTGATCACGCCCCTCACCGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:27
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:
NO
A:
NA
C2:
PF127742=AAA_6=PU(8.2=48.7)
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:
CTCAGTGATCTGGTGGCCCTT
R:
GTCGGTGAGGGGCGTGATC
Band lengths:
276-507
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