HsaINT0049154 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52358558-52359386:+
Coord C1 exon
chr3:52358558-52358737
Coord A exon
chr3:52358738-52359245
Coord C2 exon
chr3:52359246-52359386
Length
508 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGC
5' ss Score
9.44
3' ss Seq
TGCCCATGCTGTCTTCCCAGATG
3' ss Score
9.57
Exon sequences
Seq C1 exon
CTGCTATTCCAGGAGGACCTGGAGATCACGCACATGTACTCAGCCGAGGGGGAGGAGGTACAGTTGTGCTTCTCCATCTACCCCTCCAGCAACGTGGAGGACTGGCTGCGGGAGGTGGAGCGCAGCATGAAGGCCAGTGTGCACGACATCATTGAGAAGGCCATCAGGGCCTACCCCACG
Seq A exon
GTGAGCCGCCCGCAGCCCGTGCAGCCTTCCACCCCTGCACCCCTCTGCTCCCTCTCAGTGCCCCTCCTGCTCTAGCCGGCCTCGTCCTCAGGCTGCAGCCCTGAGGTCCCTGGGGGCTCAGGCGGGATTCTGGAGTCTTTCCTTTCCACACACACTCCAGAAAGTGGGACTCACTCCTAATCATCGGGATGGCTGTTCTGGTTCCCAGCACTCACTGGGTGCCAGGCTCCAGGCTGGGCCCTCTCCTGCAGTCTTTCTCTCAGCTCCATGACCATAACCGGCAGCTGGGCTCTAGGTGACTCCCCAGCCTGCAGAGTCAGTTCAGAGATATCTCTGCCACCCTGAGAAGCCCAGAGCATAAGGGCTTCCCTGCTCTGAAGGGACTGGTGGCATCAACAACTGGAGCCAAGTCTGAAAGGCCAGAGCACAGACAGCATTCAGAGGAAGAAGAAAGAATGGGATTGGGGCTGCGGCTGTCCAGGTCAGCCTGCCCATGCTGTCTTCCCAG
Seq C2 exon
ATGCCCAGGACCCAGTGGGTTCTGAACTGGCCTGGCCAGGTGACCATCGCTGGGTGCCAGACCTACTGGACCATGGAGGTGGCAGAGGCTCTGGAGGCCGGCAACCTCAGAAGCCAACTGTTCCCCCAGCTCTGCCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:25
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:
PF083938=DHC_N2=PD(14.1=96.7)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping 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:
CTGCTATTCCAGGAGGACCT
R:
CTGGCAGAGCTGGGGGAA
Band lengths:
318-826
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