HsaINT0049207 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52396868-52397877:+
Coord C1 exon
chr3:52396868-52397044
Coord A exon
chr3:52397045-52397706
Coord C2 exon
chr3:52397707-52397877
Length
662 bp
Sequences
Splice sites
5' ss Seq
CACGTGAGT
5' ss Score
9.3
3' ss Seq
GTTGGCCTCCTCTCTCCTAGGGC
3' ss Score
9.24
Exon sequences
Seq C1 exon
GTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCAC
Seq A exon
GTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTCAATCCATCCCATCCCACAAAGACAGCCTTGGCGAGGGAGTCAGACCCTGCCCACTGGGGCTTGCCTCTGTGAGTGAACTCCTGGTCAGCCACTCCCTGGGTGGAATTACTCAGTGAAGGCTTGGGGCAGCTCCTCCAAGGCAGTAACCAGGCCCAGACTCCACAGTCAGGGAGGGCTGCCACAGAAATGATGCTTCCCCTAAGATGTGTGAGGAGAAGCCATGAGCCAGGGCTGGGTTGTGTGGGTCATCAGTGCAAAGGGCCTGTGGCAGGAGGGAGCCTGACAAATTTGGGCCACTGAATAGAGGGGCAGGGAATGGATGGCAGTAACAAGGAGGCTGGGAGGGAAGCAAGGGCCACACCACACAGTGCCTCAGAGGCCTGGAGTCCCAAGAGCAGGGACATGCATAAGGGTTATGAGCAGGAGTGACAAGTGGGGAATGTGACAAGTGGGGATGTGCTCCATTGGAGGGTAACTCTGAGGGCTGGGGCAGAGCAAGCCAGGGGCTTCCATGTTGGCCTCCTCTCTCCTAG
Seq C2 exon
GGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:72
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=0.101
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(12.9=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(12.4=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:
GTCCTCAAGTACACGGCAGG
R:
GGCTGCCTGCAGAAGATGATT
Band lengths:
334-996
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