HsaINT0049984 @ hg38
Intron Retention
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38852694-38853347:+
Coord C1 exon
chr6:38852694-38852798
Coord A exon
chr6:38852799-38853185
Coord C2 exon
chr6:38853186-38853347
Length
387 bp
Sequences
Splice sites
5' ss Seq
GTTGTAATT
5' ss Score
-1.21
3' ss Seq
TCCTTGTAATTTTGTTTTAGTTG
3' ss Score
7.82
Exon sequences
Seq C1 exon
CCGCATCTCCCTGCAGTATCTGACAACATCAATGAGGTGACATTTCATGCAAAAGACTATGATCGCATCATGGCCGTCATATCAAGAGAAGGAGAAAAAATTGTT
Seq A exon
GTAATTTACCTTGCTTTAAATTTTTTTATTAGAATTTCTTTAAAAACTTAGGTTGAGGAGAATACAGTTCTCTTACAGAAAAAAACAGGAGGAGAGGGAGTTCTCATTCTACAGCCCTGGGCTTTGTTAAAAACTAGTTTAGATAAATCCTTTAACTTCTCTGAGACTCATTTTGTAATTTATGAAGTGAAAGTTTTGGACTAGGTGATCTGTGTAGTTCCTTCCAGCTATAGTATTAGGTGATTTTACCCATATTTAAAATATTTTGTATAAAATATGAAACTGTTTGCTTGGCATAGGGCACTATGATTTATTAAGTGTGCATGGAACGTCTGTAAAAATGCCAAATTATTATCAATTTATAATATCCTTGTAATTTTGTTTTAG
Seq C2 exon
TTGGATAATTCTGTTATGGCCAAAGGTCCTGTGGAGATTTGGCTACTGGATTTGTTAAAAATGCAGATGTCATCATTACATAATATAATTAGATCCGCTTTCTATCAAATCAGTGATTCAGGATTTCAACTCTTACCATTCCTCAGCCACTTTCCAGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721:ENST00000359357:38
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:
PF083938=DHC_N2=FE(8.2=100)
A:
NA
C2:
PF083938=DHC_N2=PD(9.0=68.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCATCTCCCTGCAGTATCTG
R:
GCTGGAAAGTGGCTGAGGAAT
Band lengths:
262-649
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