HsaINT0049152 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52357614-52358003:+
Coord C1 exon
chr3:52357614-52357735
Coord A exon
chr3:52357736-52357897
Coord C2 exon
chr3:52357898-52358003
Length
162 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
3' ss Seq
CACCCCTGTTCCCCTGGCAGATT
3' ss Score
10.98
Exon sequences
Seq C1 exon
GTGATCAATGTGTGTTCCGACCTGAGAATGCTGGACAGCCTGCGGGACTGCAACAAGATTCTGGACCTGGTGCAGAAGGGCCTCAGCGAGTATCTGGAGACCAAGAGGAGCGCCTTCCCCAG
Seq A exon
GTGGGCGCCACCTGGCCATGCCCACTCCGCCACTGTCTGCCCACAAGGCTGAGGTGTCCAGGGCCCTGCTCAGGCTAGGGTGCGGGGATGTCAGCAGGACTGGGGCAGCTGGGGCCCAGGGAGCCTGCACGACCCGCTTCCTCACCCCTGTTCCCCTGGCAG
Seq C2 exon
ATTCTACTTCCTGTCAGATGATGAACTACTAGAGATCTTGTCGCAGACAAAGGACCCCACGGCCGTGCAGCCACACCTGCGCAAGTGCTTCGAGAACATCGCTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:23
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(9.7=100)
A:
NA
C2:
PF083938=DHC_N2=FE(8.5=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:
TCAATGTGTGTTCCGACCTGA
R:
GATGTTCTCGAAGCACTTGC
Band lengths:
218-380
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