HsaINT0049666 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7831086-7831541:+
Coord C1 exon
chr17:7831086-7831314
Coord A exon
chr17:7831315-7831389
Coord C2 exon
chr17:7831390-7831541
Length
75 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
3' ss Seq
AAGAGCTCCTGCCTGCTCAGGTC
3' ss Score
4.42
Exon sequences
Seq C1 exon
GTTGTCAGCACTGGAGACTTATTTCATCCCCAAGGATGGCAGCCTCGCTTCTTACAAGGAATACATCAGCTTATTGCCTGGCATGGACCCCCCTGAGGCCTTTGGCCAGCACCCCAATGCTGATGTGGCCTCTCAGATCACTGAGGCACAAACCCTCTTTGATACTTTGCTTTCCTTGCAACCTCAGATTACACCCACCAGGGCTGGAGGCCAGACCCGGGAAGAGAAG
Seq A exon
GTAAAAAGAGCCGGGCCTGGGGGAGGGAAAGTGATGAGAAGAGGGGGCTACACTCAAGAGCTCCTGCCTGCTCAG
Seq C2 exon
GTCCTTGAGTTGGCCGCTGATGTGAAGCAGAAGATCCCTGAAATGATCGACTATGAGGGGACTCAAAAACTGCTAGCTCTCGACCCCTCCCCCCTCAATGTGGTCCTTCTGCAGGAGATCCAGAGATACAACACACTGATGCAGACCATCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:80
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.198 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(10.8=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(10.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTTTCCTTGCAACCTCAGA
R:
GCAGAAGGACCACATTGAGGG
Band lengths:
174-249
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