HsaINT0049195 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52391179-52391603:+
Coord C1 exon
chr3:52391179-52391328
Coord A exon
chr3:52391329-52391442
Coord C2 exon
chr3:52391443-52391603
Length
114 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
3' ss Seq
ACCGGTCCCACCCACCACAGACG
3' ss Score
6.87
Exon sequences
Seq C1 exon
GAGAAGGACAATGGGCTGGATGTGTTCAAGTTGAGTGACCGCGACTTCCTGCGCAGCATGGAGAACGCCATCCGCTTTGGCAAGCCATGTCTCCTGGAGAACGTGGGCGAGGAGCTAGACCCAGCCCTGGAGCCAGTGCTGCTCAAGCAG
Seq A exon
GTGGGTCTGCAGTGGTGATGGCAGGGTGGCAGTAGGCCTGGACAGGGCAGTCCCCTTCCCCTGCCCCACTGGTGATGCTCAGGCCACAGTACCCACCGGTCCCACCCACCACAG
Seq C2 exon
ACGTACAAGCAGCAGGGAAACACGGTGCTGAAGCTGGGGGACACGGTGATCCCCTACCATGAGGACTTCAGGATGTACATCACCACCAAGCTGCCCAACCCACACTACACGCCCGAGATCTCCACCAAACTCACCCTCATCAACTTCACCCTGTCGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:61
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:
PF127812=AAA_9=FE(21.3=100)
A:
NA
C2:
PF127812=AAA_9=FE(23.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGTTGAGTGACCGCGACTTC
R:
GAGATCTCGGGCGTGTAGTGT
Band lengths:
245-359
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