HsaINT0049208 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52397707-52398162:+
Coord C1 exon
chr3:52397707-52397877
Coord A exon
chr3:52397878-52398031
Coord C2 exon
chr3:52398032-52398162
Length
154 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
3' ss Seq
GTATTCCTTTGCCCCTGCAGATA
3' ss Score
11.3
Exon sequences
Seq C1 exon
GGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAG
Seq A exon
GTGGGTGGTGTCAGAGTAAGGGGCCCAAGGGCTGGACGGGCTGGGCTTCACCATCCTGCCCACTCCCCTGTGGGAAGGACCCCTATGCATGTGGAATCCCACAGGGGATAAGGGGGCCCAGCCTTGACCCCACAGTATTCCTTTGCCCCTGCAG
Seq C2 exon
ATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:73
Average complexity
IR
Mappability confidence:
NA
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.101 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(12.4=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(6.1=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:
ACATCAAGAGCCTCCCACTCA
R:
CACTGGGTACTTGGCCATCAC
Band lengths:
242-396
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