HsaINT0049833 @ hg38
Intron Retention
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84624465-84625063:+
Coord C1 exon
chr2:84624465-84624620
Coord A exon
chr2:84624621-84624901
Coord C2 exon
chr2:84624902-84625063
Length
281 bp
Sequences
Splice sites
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
3' ss Seq
TAATGCATTGCTTTCTTCAGGAT
3' ss Score
7.23
Exon sequences
Seq C1 exon
GTGGAGACAGTTGAATCTTTTGACTGGCAGAGACAACTGCGCTATTACTGGGATATAGACCTGGATAATTGTGTGGCTAGAATGGCGCTCTCTCAGTACACTTATGGCTATGAATATTTGGGTGCATGCCCAAGATTGGTTATTACTCCACTCACA
Seq A exon
GTAAGTTATTGATCACTTGGGTTAATATTGACACAAGAGTGCTTTTCAATCAAAAGTCTTGAAAAGTTTCATATGACATTAACTCTTGAAAGAATTTATTATGAATACATCTTTGTAAAGCAAATATTTGCATTATTTAATTATGTGCATGGATCTTTTGGTGTATTTCAATTGCTATATTTTTCATAGAAAATAATAATCCTTCCCCCATAGAGAGGAAATGCCTTAATTTGTGGCCAGAGTTGGTTCCCTTCATATTGATAATGCATTGCTTTCTTCAG
Seq C2 exon
GATCGCTGCTATCTTTGCCTCATGGGAGCTTTGCAGCTTGACCTTGGGGGTGCACCAGCTGGTCCTGCTGGCACTGGGAAAACAGAGACTACCAAAGATCTGGCAAAAGCTCTTGCCATCCAGTGTGTGGTCTTTAACTGTTCAGATGGTTTGGACTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423:ENST00000237449:27
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=0.040
Domain overlap (PFAM):
C1:
PF127742=AAA_6=PU(13.2=32.7)
A:
NA
C2:
PF127742=AAA_6=FE(22.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGACTGGCAGAGACAACTG
R:
AGTCCAAACCATCTGAACAGT
Band lengths:
295-576
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development