HsaINT0049172 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52370718-52372086:+
Coord C1 exon
chr3:52370718-52370825
Coord A exon
chr3:52370826-52371945
Coord C2 exon
chr3:52371946-52372086
Length
1120 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGCC
5' ss Score
3.48
3' ss Seq
TGAGCCACCTATGATTCCAGGTT
3' ss Score
4.58
Exon sequences
Seq C1 exon
CTGACTCTGCTTTTCCCAGAAGAGGGGCTGGTGTTCGATTACAGGCTGGAGGACGCGGGCATCAGTGGCACCAACGACAGTGAGGATGAAGAGGAGGAATACAAGCAG
Seq A exon
GTGGCCGCAGGCCCTCCCCAGAGACTGCACAGGGAGGGACCACTGGGTGGCTGCTGTTCCCGCAATGAATTATGGCCACACAGGGAGCCGTCACATTGATGGCCACCAGGTCTCAGGCAGCGGTTATTTGCATCATCTCATGAATCCTCATGGCCCTGTAGAGTGGTTATTATTGTGCTTGTTTTCCAGATGTGGCAGAGCTGTACTTGAACCTAGGGCTGGGCTAAGAGGGGAGACATTCGAGTACCTCCCTTTCCAGCCATATGCACTGCCTCTTCCACATTGATGCGGAGCCCAGGGACTGGCCACCTCAGTTCCACTTAAAAGCCCCATTTTCCCAGAGACTGGGCTCCCGAGGGCTGGGGGGCAAGCTCTTGAAGCCTGCTTCAGTGTCCTCATCGCTACTATCAGCTAGCAAGGGCTCCATGAGCTCACCCTCATCCCAAGGTCAAGACCCCAGCCCAGGAGGACAGAGGTGGAAAGGCGTCTGCAGAGACCTGTCCATTACTGTGCAGCGTCCTGCTGGGGGCTCCCAGGGCACATTTGGGTCTAACGTTTAAGACTGTGCCCAGTGGGATGCATTGGTTTGGCCATAGTGATCCCCCCATCAGGGGACGTCTGCAAGCTGGGTCAGGGCTGCTGTGAGTGAAGGGATTTGTGCAGGCGGGGACAGTGTTGGGAAGACTGGACCTAGTGGCCTCTCAGCTTCCAGCTGACACCAGTGCCCATGGTTCTGGCCCCCACATTTCTCGGGTAGCCTGAAACTAAACAGAAAACCCCTTTGCATTCTGGGTTGTTCAATTCTCGGAGCTTCTCCTTTCTGCAGAGACTCAGGGCCTGGCAGTCCTTAGGGAGCCCCCAACCTGGGCAGGGAGAGCCCTCTTATGCAGTTGTGCTCAGAGTCCCCATTCTTGGCTGTTTGTGCTGGGAGTCCCCCTCCCCATGCAGAAAGCAGGGCACAGGACTTTCCATTTCCGCCGGAAGCAGCCCTGCACCTGGACCCGCTTGCCAAAGCCCAGCCGTGCAGCTCCTGGCCCTTCTGCACTTGGCCATGGGGCCGCAGCCAGGAGTGGGGCAGGGAGGGGTTCCAGGCCCACTGCTGAGCCACCTATGATTCCAG
Seq C2 exon
GTTGCCTGGGTGAAGTGGATGGACTCCTCAGCTCCATTCACCATGGTACCAGACACCAACTACTGCAACATCATTGTGCCCACCATGGACACCGTGCAGATGTCCCATTTACTGGACATGCTGCTCACCAACAAGAAGCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:41
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.139 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF127752=AAA_7=PU(12.0=72.3)
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:
TGACTCTGCTTTTCCCAGAAGA
R:
GCTTCTTGTTGGTGAGCAGCA
Band lengths:
246-1366
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