HsaINT0049180 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52381640-52382455:+
Coord C1 exon
chr3:52381640-52381836
Coord A exon
chr3:52381837-52382319
Coord C2 exon
chr3:52382320-52382455
Length
483 bp
Sequences
Splice sites
5' ss Seq
CATGTGAGC
5' ss Score
5.03
3' ss Seq
ACCCAAACTTCTGCCTCCAGGGC
3' ss Score
8
Exon sequences
Seq C1 exon
ATGATGCAGGTGATAGAGGAGTACATAGAGGACTACAACCAGATCAACACGGCCAAGCTGAAGCTGGTCCTCTTCATGGACGCCATGAGCCACATCTGTCGCATCAGCCGCACCCTACGCCAGGCGCTGGGCAATGCACTCCTGCTGGGCGTGGGTGGCAGCGGCCGCAGCTCCCTCACAAGGCTCGCCTCGCACAT
Seq A exon
GTGAGCGCCTCCAGGGCGTGCTGGGCAGTGGGCGGCCAGGGCTGGCTGGTCGGTTTGACTGACCCATGCTTTTGCACAGTGGTAGAGGCCTCGGGCAACCCTGAAGTAGGCCCGTGCAGCCTACAGGCTTCTGGAAAGACTAGTAGCAGGATCTGGGCTCCAGGGAGAGGCAGCAGCAGTGCCTGTGGTGCTGTAGGGAGGGAAGTGTGGTGCAGGCATCCCAGAGGGATTACTAGGGGAGGTGGCCAGGGCTGCTCTCAGAATCAGAGCTGGGAGGATGGAAGGGAAGGGCATTTGGACTGAGGGAACAACTTGGGCAAAGGTCTGAAGGCAAAAAAGCAGGTTCAGGGCCTGAAGGGTCTGCAGGTCTGCCCAGGATGGGAGCAGAATTCCAGGTGGTCAGGGTAGGGTGTGGTCACCCACCACCCTTCAGCGTCTGGCCCCAAGTCCCTGGCATGCTTCAACCCAAACTTCTGCCTCCAG
Seq C2 exon
GGCCGAGTACGAGTGCTTCCAGATTGAACTATCCAAGAACTACGGCATGTCCGAGTGGCGAGATGATGTGAAGAAGGTCCTGCTCAAGGCGGGCCTACAGAACCTACCCATCACCTTCCTCTTCTCAGACACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:49
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:
PF127802=AAA_8=PU(19.9=81.8)
A:
NA
C2:
PF127802=AAA_8=FE(16.6=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:
TGATGCAGGTGATAGAGGAGT
R:
TGGGTGTCTGAGAAGAGGAAGG
Band lengths:
331-814
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