HsaINT0049210 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52398850-52399779:+
Coord C1 exon
chr3:52398850-52399201
Coord A exon
chr3:52399202-52399544
Coord C2 exon
chr3:52399545-52399779
Length
343 bp
Sequences
Splice sites
5' ss Seq
AAGGTCTGG
5' ss Score
3.93
3' ss Seq
GTGTCTGTGTCTACCCACAGGTG
3' ss Score
12.69
Exon sequences
Seq C1 exon
GTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGCACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACTGTGCCTGAGCTCTGGAGTGCCAAGGCCTACCCATCGCTCAAGCCTCTGTCATCATGGGTCATGGACCTGCTGCAACGCCTGGACTTTCTGCAGGCCTGGATCCAAGATGGCATCCCAGCTGTCTTCTGGATCAGTGGATTCTTCTTCCCCCAGGCTTTCTTAACAGGCACTCTGCAGAATTTTGCCCGCAAATTTGTCATCTCCATTGACACCATCTCCTTTGATTTCAAG
Seq A exon
GTCTGGGCACAGCCAGGGCCAGGTCAGGTGACAGGCTAGGGTACAGCCCAGGGAGGAGAGGCTCTGAGGCCACGGTTGGTTGGCAGTTGGGGGACCCCTAAGCCAGGGCATGGAAAGACCCAAGCCAGAAGAGGCCATGAGTCCCAGGAACGGGTCTGGGCTGGGTCCATCAGAAATCCACAGGGGCAGGGCACAGACCACAGGCCATGGGCTAAAGTGGTAGGTACGTGATGATGGGCAGGCAGGCAGCATTAGGCAGCTCTCTCAGAAGGGAGTTTTGTGCCTCCTAACCCAGATTCTGGGTATTGTTATGTGTGTGGGGTGTGTCTGTGTCTACCCACAG
Seq C2 exon
GTGATGTTTGAGGCACCATCAGAGTTAACACAAAGACCCCAAGTAGGGTGCTATATCCATGGATTATTCCTGGAAGGTGCCCGCTGGGATCCAGAGGCCTTCCAGCTGGCTGAGTCTCAGCCCAAGGAGCTGTACACAGAGATGGCCGTTATCTGGCTCTTGCCAACACCCAACCGCAAGGCCCAGGACCAGGACTTTTACCTGTGCCCCATCTACAAGACACTGACTCGTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:75
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.073 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(16.5=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(11.0=100)
Main Inclusion Isoform:
NA
Other Inclusion 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:
AGCCTCTGTCATCATGGGTCA
R:
AGCCAGATAACGGCCATCTCT
Band lengths:
349-692
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