HsaINT0049671 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7832854-7833221:+
Coord C1 exon
chr17:7832854-7832928
Coord A exon
chr17:7832929-7833070
Coord C2 exon
chr17:7833071-7833221
Length
142 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGA
5' ss Score
6.03
3' ss Seq
CTGCTCCCATTTCTCCCCAGGAT
3' ss Score
11.23
Exon sequences
Seq C1 exon
GTTTCAGTGGACAGCCTCTCCTGGGAGTTTATCGTTTCCACTGTGGATGACAGCAACCTAGTGTATCCCCCCAAG
Seq A exon
GTGGGAGCCAGTTGTGCTTGGGGCTCTGAGCAAAAGAGGGTACTGGAAATAATTGGACGAAAAGGGAGGAGAGAGGGAGCAGGTCAGGGGCGCTGGCAATTGAAGTCTAGCTTCTCCCAGACCTGCTCCCATTTCTCCCCAG
Seq C2 exon
GATGGTGTCTGGGTCCGGGGCCTGTACCTGGAAGGTGCTGGCTGGGACCGGAAGAACTCCTGCTTGGTGGAGGCAGAGCCCATGCAGCTTGTCTGCCTCATGCCCACGATCCACTTCCGGCCTGCAGAGAGCCGCAAGAAGAGCGCCAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:84
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:
PF0302810=Dynein_heavy=FE(3.4=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(7.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTTCAGTGGACAGCCTCTCC
R:
CCTTGGCGCTCTTCTTGC
Band lengths:
226-368
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