HsaINT0049153 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52357898-52358737:+
Coord C1 exon
chr3:52357898-52358003
Coord A exon
chr3:52358004-52358557
Coord C2 exon
chr3:52358558-52358737
Length
554 bp
Sequences
Splice sites
5' ss Seq
CGGGTGGGC
5' ss Score
5.01
3' ss Seq
TGCTCCTCCACTGCTTGCAGCTG
3' ss Score
7.92
Exon sequences
Seq C1 exon
ATTCTACTTCCTGTCAGATGATGAACTACTAGAGATCTTGTCGCAGACAAAGGACCCCACGGCCGTGCAGCCACACCTGCGCAAGTGCTTCGAGAACATCGCTCGG
Seq A exon
GTGGGCAGCTGGGCCCGGGGCTCAGGGCTGGGAGCATGGGGCATCTTCCCAGGGAGAACGTCCCTCCCTTTGTGATGAGCCCTTTTAGCAGGAAATGTGGCAAATGACATTCCTGGTCTTTGGAGACACACCTGGGGCCTGTGGGAGGAAGGTCAACTGCAGAATCCCCAGCTCAGGGCTGAGGGCCCTGGATTTCCAACTCACCAGGCGCTCCCTGTGCCCCCAGCACACTGCAAAACCCATGAGGCCAGAAGCCTGTGGCCTGCCTTGTCTTCCCTCATCTATGCAGGAGGCCGGGGACATGCAAGGCAGTCAGCCTCCTTCCCTAAAGCCTGCTTCATGCCGGGCCTGGGCTGGGGCCTGACCACTGCTGGGGAGAAGGCAGGCCATCCAGCCTGGGAAGGCCCAGCCAAGATAGACTCTCGGGGGGACGGGAAGGCAGGGCTTTCTTCTTGAGGTGGAGGGCACCGGGCAGGCTTAGCGCTGGGGCTGTGGTGGCCAGGGCATCTGGGCACACCAGGGTGACCCCACTCCTGCTCCTCCACTGCTTGCAG
Seq C2 exon
CTGCTATTCCAGGAGGACCTGGAGATCACGCACATGTACTCAGCCGAGGGGGAGGAGGTACAGTTGTGCTTCTCCATCTACCCCTCCAGCAACGTGGAGGACTGGCTGCGGGAGGTGGAGCGCAGCATGAAGGCCAGTGTGCACGACATCATTGAGAAGGCCATCAGGGCCTACCCCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:24
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=FE(8.5=100)
A:
NA
C2:
PF083938=DHC_N2=PD(14.1=96.7)
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:
ACTTCCTGTCAGATGATGAACTACT
R:
CCCTGATGGCCTTCTCAATGA
Band lengths:
270-824
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