HsaINT0049142 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52349195-52350108:+
Coord C1 exon
chr3:52349195-52349420
Coord A exon
chr3:52349421-52349988
Coord C2 exon
chr3:52349989-52350108
Length
568 bp
Sequences
Splice sites
5' ss Seq
AGCGTAAGT
5' ss Score
10.07
3' ss Seq
GCGCCTCCTCCCACTGCCAGATC
3' ss Score
8.84
Exon sequences
Seq C1 exon
AACCTACCAGACGCAGGGCCTGTTGGCCCAGGAGGTGCGGGAGGTAGTGCTCACCCACCTGCGGGAGAAGGAGATCCTGGACAGCTCGCTGCCCAGCAGCATCATCATTGGGCCTTTCTACATCAACACCGACAATGTCAAGCAGAGCCTGTCCAAGAAACGCAAGGCCCTGGCCACTTCCGTGCTGGACATCCTTGCCAAGAACCTGCATAAGGAGGTGGATAGC
Seq A exon
GTAAGTGCCCACCTGCCCCGCCTCAGTGACCACAGCAGCACACACCACAGCAGCACACACGGACCCTCACATACATGGCAAGATGTCCCCAAGCAGGGTCTGGGGTGTCTGTGGATGCCCAGGCCAAGGGAAGGAGCTGGAAATCACCCTGCCCCATCCCTGCCTGTCTGCAGAGAGCTGTCCTGTATGGGAGGTCCCAGGAAACGGGGGTTTCCACCTCCTTCCCTAGACTCTTAGAGGCCTGGAAAGCCTCACGAAGGACACCCTTGACGGACTTGTTTCATGGAGCTAGGGGATTCGAGTGCAGGCCTCAGAAGCCCTGCGTGTGTTGGTAGGGCTGGAGGAGGCTGGAAGGGTGAGGTGTGCCGGGTCATACCCTTGCCCCACTGACAGTCCTCAGCAACCCAGGGAGCCCACCAGGAGCACCCCTCTTGGAAAGCGCCGCAGGATGTTGTGGTGGAGGGGACAGTTACCTGTCGGGAGATGCTGGAGACCAAGGAGGAAGAGCAGGTGAGGGAAGGCAAGGGAGCAGCATGCTGCCCTCCCCAGCGCCTCCTCCCACTGCCAG
Seq C2 exon
ATCTGCGAGGAGTTCCGCAGCATCAGCCGCAAGATCTATGAGAAGCCCAACAGCATTGAGGAGCTGGCTGAGCTGCGAGAGTGGATGAAGGGCATCCCGGAGAGGCTGGTGGGCCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:14
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:
PF0240317=Seryl_tRNA_N=PU(39.6=52.6)
A:
NA
C2:
PF0240317=Seryl_tRNA_N=FE(38.6=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:
AACCTACCAGACGCAGGGC
R:
CACCAGCCTCTCCGGGATG
Band lengths:
337-905
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