HsaINT0049787 @ hg38
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13768960-13769615:-
Coord C1 exon
chr5:13769501-13769615
Coord A exon
chr5:13769137-13769500
Coord C2 exon
chr5:13768960-13769136
Length
364 bp
Sequences
Splice sites
5' ss Seq
ATGGTGGGT
5' ss Score
6.18
3' ss Seq
CTTGCTTTATATTGAATTAGGTC
3' ss Score
7.37
Exon sequences
Seq C1 exon
AATGAATACTGGATTGGAAAAGCTCAAAGAAGCTTCAGAGTCTGTTGCAGCCTTGAGTAAAGAACTGGAAGCGAAAGAAAAGGAGCTACAAGTGGCCAACGATAAAGCCGACATG
Seq A exon
GTGGGTGGGCATTTACACATGTGCCACATTCCTTTTGAATTCTCAGTTCACAAGTGTTAATGATCTATGCATATTCACTGGCTATAACTAGTGAAGTATACATTAACTTCCATTGGAATAAAATACTCTTAATTTTATGTATAAAAAACTGGGTAAGTGCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCTACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAACAAAACTGGGTAAGTGAACAAAATCAACAAATCAAGGCAAAAATGTGCATTTTCAGCTGGATGTTTAATACTGTTTGGTGAAGTATTGCTTGCTTTATATTGAATTAG
Seq C2 exon
GTCTTAAAAGAAGTGACAATGAAAGCACAGGCTGCTGAAAAGGTCAAGGCTGAGGTACAGAAGGTGAAGGACAGGGCCCAGGCCATTGTGGACAGCATCTCTAAAGACAAAGCCATTGCTGAAGAAAAACTGGAAGCAGCAAAACCAGCTTTAGAAGAGGCAGAAGCTGCATTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:57
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=0.017
Domain overlap (PFAM):
C1:
PF127772=MT=FE(10.9=100)
A:
NA
C2:
PF127772=MT=FE(16.6=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:
TGAATACTGGATTGGAAAAGCTCA
R:
AGCTTCTGCCTCTTCTAAAGCTG
Band lengths:
281-645
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