HsaINT0049858 @ hg38
Intron Retention
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84703395-84704302:+
Coord C1 exon
chr2:84703395-84703562
Coord A exon
chr2:84703563-84704066
Coord C2 exon
chr2:84704067-84704302
Length
504 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGC
5' ss Score
9.37
3' ss Seq
AGTCATGTTTCAATGGTTAGGTC
3' ss Score
3.82
Exon sequences
Seq C1 exon
GCACGAGATCGGGTGAAGAATGGTCTCACCAAGCTACTAGAAACAAACATACTAGTAGATAAAATGAAACTAGATCTTTCAGCTTTAGAGCCTGTACTTTTAGCAAAATCAGAAGATGTTGAAGCCCTGATGGAAAAATTGGCAGTGGATCAAGAAAGTGCCGATCAG
Seq A exon
GTATGCTGCAGTTCCTGAGAATGTGGAAAAGGCTTCTGTCAGCAACTGATCACTTATATATAATGAGACACGATTGGATTTTTTTATTATATATGTTATTAAAATAATTAAGTGATAGATTTAGCAAAGTTTTTTTTTTTTTAGCAATTTAGCAATGCTTTTAAGTTGTAAACAATCTCCCTTTACTAAATCAGTTTGGCTCTGTCCCCAAGAATTGATGCAGCCCAATGAATAGGACAGAGAATTGTGAGAAAAGCACCACCTACAAATATAAAGCAACTATGTCTCTCCTAAGATGGAACTGTTTGTTATAATAAGTTTATATTCATTATGCTATTGGCATGGCATAGATGGACAAAGGAGAGCATAAAATGCAATCTAGCTAATTCCCTTTCATCATTATTCTAATCCAAAGGGCAAATATGACTCACTATTATTGGCTTTGTTTTGAATATTAAAATTCAAATAATGAGGCCACTTAAGCAGTCATGTTTCAATGGTTAG
Seq C2 exon
GTCCGTAACACTGTGCAGGAGGATGAAGCAACAGCAAAAGTCAAAGCTGAAGAAACCCAAGCAATAGCTGATGATGCTCAAAGAGATCTTGACGAGGCACTACCTGCACTAGATGCTGCCAATAAAGCACTGGATTCCTTAGATAAGGCAGATATATCTGAAATCAGAGTTTTTACAAAGCCCCCAGATTTGGTCATGACAGTAATGGAAGCAATCTCCATTCTTTTGAATGCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423:ENST00000237449:49
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.070 A=NA C2=0.278
Domain overlap (PFAM):
C1:
PF139001=GVQW=PD(9.1=33.3)
A:
NA
C2:
PF127772=MT=FE(23.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGGTGAAGAATGGTCTCACC
R:
CCAAATCTGGGGGCTTTGTAA
Band lengths:
352-856
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