HsaINT0049161 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52362388-52363144:+
Coord C1 exon
chr3:52362388-52362501
Coord A exon
chr3:52362502-52362994
Coord C2 exon
chr3:52362995-52363144
Length
493 bp
Sequences
Splice sites
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
3' ss Seq
ATGTGCACTGTGTGTCCCAGGCG
3' ss Score
7.35
Exon sequences
Seq C1 exon
GTGGAACGCTTCATGTTTGAGGGTGTGGAGATCCCACTGGTGCCATCCTGCGCAGTGTTTATCACCATGAACCCGGGCTACGCTGGCCGCACGGAGCTGCCTGACAATCTGAAG
Seq A exon
GCAAGTGCAGGCCCAGAGTGGCCCAGGAAGCACCAGAGCTCTAGCCTGAGTTCAGAGATGCTAAGCCACTTATGCAAGGACACAGTTGCTTGGACTCCAGGGACTGTGATTCCCTATGGTAGCCCCTTAGCCATGGAGGGGAGGCCTCAGGGCCTCAGACTTGTCCTCAGGGCATGGGAGAAGTCAGGCTGCCTATGGATGTGGTGTGGAGGGGGAATCTAATGAGACCTGTTCACCCTGGGCCTTCAGGAGAAACAGGAAAACAGGAGCCAAGAGGGGCATCTCCTGGGAGTCATGTGGGGGCAGGTTTGGATCAACACCAAGGATCCACTCTAATGGCAGAGCTACCAGTCTCAGGGGAGTGAAAGCCTCAGCTGTGGCAGGCTTGGTGCAGCAGGGAGTCCCAGCGTGTTAGGGAGGAGGGCCGGATGAAGCTGGGGGTGCTCTGGGGGTGAGCTCTGTTTGCTGTTCACATGTGCACTGTGTGTCCCAG
Seq C2 exon
GCGCTCTTCCGACCCGTGGCCATGATGGTTCCAGATTACGCCATGATCACTGAGATCTCCCTCTATTCCTTTGGCTTTAATGAGGCCAGTGTGCTGGCTAAGAAGATCACAACCACCTTCAAGCTGTCTTCTGAGCAGCTCAGCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:31
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:
PF127742=AAA_6=FE(16.0=100)
A:
NA
C2:
PF127742=AAA_6=FE(21.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAACGCTTCATGTTTGAGGG
R:
TGAGCTGCTCAGAAGACAGC
Band lengths:
254-747
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