HsaINT0049995 @ hg38
Intron Retention
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38872536-38873147:+
Coord C1 exon
chr6:38872536-38872782
Coord A exon
chr6:38872783-38872905
Coord C2 exon
chr6:38872906-38873147
Length
123 bp
Sequences
Splice sites
5' ss Seq
AAGGTATAC
5' ss Score
7.64
3' ss Seq
TCTGTTTTAATTATTTTCAGGTG
3' ss Score
10.54
Exon sequences
Seq C1 exon
TTATATGAGACGTCTTTGGTACGGCATGGCTTGATGACTCTTGGGCCCAGTGGTTCTGGAAAGACAACCGTTATCACGATTCTAATGAAGGCGCAAACAGAATGCGGAAGGCCTCATAGAGAAATGCGAATGAATCCAAAAGCCATTACTGCACCTCAGATGTTTGGCAGACTGGACACTGCTACCAATGACTGGACAGATGGGATTTTTTCTACTCTGTGGAGAAAAACATTAAAAGCTAAAAAAG
Seq A exon
GTATACACAAACCTCCTTTGTGATCATTTTTTCCCTGCTAGCGTATTAACACAGTATTTTTTTGATTTTTCCATTTTAATTACTTGCAAGTGAAAAGTGATTTTCTGTTTTAATTATTTTCAG
Seq C2 exon
GTGAAAACATTTTCCTCATTTTAGATGGTCCTGTGGATGCCATCTGGATTGAGAACTTAAATTCCGTTTTGGATGACAATAAAACTCTGACGTTAGCTAATGGAGATCGCATTCCCATGGCCCCTAGTTGTAAGCTTCTGTTTGAAGTCCACAATATCGAGAACGCCTCTCCTGCCACGGTTTCTAGGATGGGCATGGTCTATATCAGCAGCTCTGCTCTCAGCTGGAGGCCAATCTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721:ENST00000359357:48
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.133 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF077289=AAA_5=PU(53.3=88.0)
A:
NA
C2:
PF077289=AAA_5=PD(46.0=77.8)
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:
GTGGTTCTGGAAAGACAACCGT
R:
ATCCAGATGGCATCCACAGGA
Band lengths:
247-370
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