HsaINT0049157 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52360311-52361352:+
Coord C1 exon
chr3:52360311-52360424
Coord A exon
chr3:52360425-52361163
Coord C2 exon
chr3:52361164-52361352
Length
739 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
3' ss Seq
ACCTCCTCTGTCTCCTGCAGGTG
3' ss Score
14.03
Exon sequences
Seq C1 exon
GTACTACTGGACAAATAATGACCTGTATATCCGTGCTGTGAATGCTGAGTTCATCTATGGCTATGAGTACCTGGGCAACAGTGGGAGGCTGGTGATCACGCCCCTCACCGACAG
Seq A exon
GTAAGCGTTCCCCTCTTGCTCCTTCCCACACTGAGACCCTCCCTCTAGTTCTCTCTGGCCCAGGAATCCAGGGACCATGGCCACTCTGGGGTGATCTAGTCCATCAGAGCAGTACAGGGTTAGGACCAAGGGCTTTGGGCTCAGACCTCAGTTCTGCCCATCACAGGCGGAGTGACTTCGGGCAGGTGACTTGACCCCTCTGTGCCTGAGTTTCCTCTGAGGCCTCCTCACGGTGGTAATGAGAATTTCATGAGCTGATACATGTAGAGCTCTCAGCACAGGTGTGGCACTCAGTGAGCATCTAATGGGTATGCACTTTCCTGTTTTTATCCGTCAATTCCTCCTTTAATGTGCCAGAGGAACTGAGCTGAGAGACATCATGGGTGAGCCCTTTTCTAATAGTTCCCTCCTAGCTCAGTCAGTCATGTCATCTTGCCGCCTGTGTCTAGCACTAGCTGGATTTTCAAGCTGTGTTTTGAGTGAGGGAAGTGAAGTGTGGCCACATGTCGGCCATCCCCAGGGGTCCCTGGGCAAAGCTGGGCAGGGTGGTGAAATGGGACAGGGAACGCGCTGGGCAGGTGTCCACAGGCTCCAGTCCTGACCCCGGAGCCAGGGCTGGGCACACCCCAGCCCACCAAAAGGGGACGGGGCGAGAGGCCCCAGTCCACAGGAAATTCCAAGGAAAGGGGGAGTGTCCAGGCCATGTGCGGCCCGAGCCCACCTCCTCTGTCTCCTGCAG
Seq C2 exon
GTGCTACCTGACACTGACCGGAGCTCTGCACCTCAAGTTTGGGGGTGCCCCAGCTGGCCCAGCTGGCACAGGCAAAACTGAGACCACCAAAGACCTGGGTAAGGCCTTGGCCATACAGACCGTTGTGTTCAACTGCTCTGACCAGCTCGACTTCATGGCCATGGGCAAGTTCTTCAAGGGCCTGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:28
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=0.031
Domain overlap (PFAM):
C1:
PF127742=AAA_6=PU(8.2=48.7)
A:
NA
C2:
PF127742=AAA_6=FE(27.3=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:
GTACTACTGGACAAATAATGACCTG
R:
GCCCTTGAAGAACTTGCCCAT
Band lengths:
295-1034
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