HsaINT0049199 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52393334-52394661:+
Coord C1 exon
chr3:52393334-52393485
Coord A exon
chr3:52393486-52394464
Coord C2 exon
chr3:52394465-52394661
Length
979 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCTG
5' ss Score
4.87
3' ss Seq
CTCCTCCTGTCCCCTGCCAGAGT
3' ss Score
9.18
Exon sequences
Seq C1 exon
ACAACCTGAAGAAGCGCATCTCCAACATCAACCGCTACCTGACCTACAGCCTCTACAGCAACGTCTGCCGCAGCCTCTTTGAGAAGCACAAGCTGATGTTTGCCTTCCTGCTGTGTGTTCGCATCATGATGAACGAGGGCAAAATCAACCAG
Seq A exon
GTGCTGGCAGAGACACCCAGGACAGACTGCCTGAGGGGTGGCCCTGTGGCAGGGCCTGAGAACAGGGTGGAAGGAAAGGGAAAGCCAGGCATGAAGGCACCGCGAGAGCAAAGTGGCAGAGGAAACAATTCCTTGATTAAAAGCAGCCAGGGCCGGGCACGGTGACTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCACCCTGGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGTGGAGGTTGCAGTGGGCTGAGATCGTGCCACTGCACTCCAGCCTGGAAGACAGAGCGATATTCTGTCTCAAAATAAATAAATAAAAGCAGCCAGAAGACCCTGGGTTAATTGTGCTCCAACCAATGGCTCAAGGTTCAAGAAGGCCAATGTTGTGAGCACAGGCCTTCTCGAGCCTTGAGTGTGCTGGTGAGCACAAAGACTGTCCCCAGGGACGGACTGTCCTGAGCCTCCCACACCTGCTTGGCCAGGAACTCACACTCTCATGAAGCCCTATGCATTTCGTGGTGCAGCGGAAAGCCCTGCCGAGACAGTGAGAGTGACAGCCACCACTGTCAGAGCCCTAACTGCGTGCCTGGCACAGGACTCTGGCCTGGGAAGCAGTCAGCCTTCTGATTCTTTCTACTCCCAAATGAGGAGGCAGAGGCCCAGAGAAGTCACATCTCTTGCCCTAAGGGCACACAGCCAGGAAAAGGCAGGGTGGGAACACTAACCCAGACCTGTTTGACTACCATCCCCAAGGGAGACTCAGTTTCTCCAGGTGAGGGTGGTTAGAGAGGCACTACTGGGTGGGGGTGCCCAGAGCAGGAGGAGCTGGCCAGGGCCTGGGCATCAGCCTCCTCCTGTCCCCTGCCAG
Seq C2 exon
AGTGAGTGGCGATACCTCCTGTCTGGGGGCTCCATCTCGATCATGACTGAGAATCCGGCACCGGACTGGCTGTCAGACCGGGCTTGGCGAGACATCCTAGCACTCTCGAACCTGCCAACCTTTTCCTCCTTCTCTTCCGACTTCGTGAAGCACCTCTCAGAATTCCGGGTCATCTTCGACAGCCTTGAGCCCCACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:65
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:
NO
A:
NA
C2:
PF0302810=Dynein_heavy=PU(12.0=81.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAACCTGAAGAAGCGCATCT
R:
GGCTCAAGGCTGTCGAAGATG
Band lengths:
343-1322
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