HsaINT0049176 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52375240-52375993:+
Coord C1 exon
chr3:52375240-52375413
Coord A exon
chr3:52375414-52375954
Coord C2 exon
chr3:52375955-52375993
Length
541 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
3' ss Seq
TTTCTCCCTCCATCCTCTAGATG
3' ss Score
11.4
Exon sequences
Seq C1 exon
GTGCCTTCAAGAACCTAGTGGACATCAACTTTGTCTGTGCCATGGGCCCCCCGGGTGGAGGCAGGAACACCGTCACCCCGCGGCTGATGCGTCACTTCAACTACCTGTCTTTCGCTGAGATGGACGAGGTCAGCAAGAAACGCATCTTCTCCACCATCCTGGGCAACTGGTTGG
Seq A exon
GTGAGTATTGGTGGGGGTGAGCATGGACAAAGGCAGAAGCCCAGGCCAGGGAGGCCACACCAAGGACAACTGGGTGGCCACCAGAAAGGGTGGAGTGGCCAAACCATGACCGCAACCCTGGGTTCACCTCTCACTCAGCTGTGTGATCTTTGGCAGCTCATGAATCTCTCTGAGCCTGTTTCTTCATCTGTACCTACCATTCCAGGTCGTGAGGGTTAAGTATGATATTGCATGTAGAGCACCTAGCATGAAGCCTGGCACGTGGTGATTGCTGGATGTATGATGCACACAGATATGCACTCACTCACATACATACATACGTATACGTTAGTACTTGCCCAGAAACTCTGGGGAAGGCATGTTACTTTTGTAAATCAGGAAAAGCCACAAGATAGGATGGACGGAGTGTCTCTGAGCCTTTATGGGGTTTGGGGAAAAGCTTACCCCAAGATGCTGTTTCCCCCACCATCTCACCTGGCCAGGGTGAGCAGCAAGAGGTCCACCTAACCCTGAGCCCCGTGTTTCTCCCTCCATCCTCTAG
Seq C2 exon
ATGGACTCCTTGGAGAAAAAAGCTACCGGGAGCGTGTGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:45
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.013 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(20.4=100)
A:
NA
C2:
PF127752=AAA_7=FE(4.6=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:
GCCTTCAAGAACCTAGTGGACA
R:
CACGCTCCCGGTAGCTTTTT
Band lengths:
208-749
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