HsaINT0049993 @ hg38
Intron Retention
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38868062-38870562:+
Coord C1 exon
chr6:38868062-38868196
Coord A exon
chr6:38868197-38870400
Coord C2 exon
chr6:38870401-38870562
Length
2204 bp
Sequences
Splice sites
5' ss Seq
CTGGTATCT
5' ss Score
2.7
3' ss Seq
TTTAAACTATGCCACCTTAGGTT
3' ss Score
5.77
Exon sequences
Seq C1 exon
GTTCATTATGACTTTGGATTGAGAAATATTCTGTCTGTATTGAGGACTCTTGGATCTCAAAAAAGAGCCAGACCAGAAGATAGTGAATTAAGCATTGTCATGAGAGGACTAAGAGATATGAACCTTTCCAAACTG
Seq A exon
GTATCTTCTCTGAATTCTCTTCTTTTCCACAATTTTAATATTGTTTCTTTCTATTTGGTGGACAAGTAGAGGTAGGCTGATGTTGAGCTGTGAGCACCCATAATTACAGGGATAATAAGTGTGCAAAGCTACCACTGTGCTTCCAGAAGAAAGCAAAAGACCCCATGACCTGTGTGACCAACATGGACTATAAGTGCCTCCTTTTATCAGCTGTGTGCAGTGAAACAGGTCATCAGTGGGCTTCAGCTCCAAGACTCAACCTAGTTGTCTACCATTATTCACAAAGTGACACAAATTCTCAGCATAAGAATCTGGATTCACAGGGAACCATGAGAACTTTTTGCTTTCTCTGTATGTGACTAGCTTATCTCAGATATATCTCTCCCAAAACATAAACATCATTTCTATTTTCCAAAAACACATTGAAAATTTGCTGTGGAGAGCATGCTGCTTTCATGCTTGTCATGGTTACAGCCTGATTTTTTTTTTTTTCTTTGAAACAGACTCTCAGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCTCATTCCAGGCTCAAGCTATTTCCCTGCCCCAGCCTCCTGAGTAGCTGGGACTACTGGCACACACCACCATGCCTGGCTAATTTTTGTACTGTTTTGTAGAGATAGGGTTTTGCCATGTCACCCAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCACCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCAAGCCCAGCCCAGCCCAGCCAGGTTGTTTTGAATAGCTGATGGACAGGTTCATGTGACATATAAGGATTTCTACATGCCACATATTGTGCCCATGCCATGGGTGTACAAAGTTGAAGAAGAAGTGGTTCAGGAAGCTACATTCTAGTTACAAAAACTAACATCTGTGGAGTTCATTAGTGTTACAAAGTCTTTTCAGGTGTATCGTCTTATTTGAGCCTCACAGCAACTCTGTGGGGTCTGGATGGCTAGCTTGTTTATTGTCACTTCACTTATTGGGGAATGGAGACTAGAGGTTGCAGGATTCCCCCATAATCACCATCAGCTGAGAAGAGGGGACAAAAATTTATAAGATTTTCTGGTGCCAAATCCACTGCTCCTGCCAGTATACCTCACTGCCTGTATGACCAACATGGACTGTAATGGAGGCTTAGACTCCCTAAGTCACCCAGGCTGGAGTGCAGTCTAAGCCTCCCTTAGATAATGGTATTTTGGAAATTCCTAGACAAGTACTCAAGAAAGCATCAGCAAAGCCCTAGAGAATAAAGAGAAATCATAAGGGGTCAGATGTTGGGAACAGGGCAATCTATGCATTAAAGACATTGCAAGCAAGGATTGGAGTCAGTGTACTCAAACCTACTGCTTATAAGAAAGGCTCAGAACACTGCCCTGATGGACTTTTGCAGCCATTGTTGGATGAAGTCATGCAGGGTTATGGCTATTTCCCCAATTTAAATAAAATATCCGTTCTTTAATTTCATGGGGTTGGGACTACAAATTATCATTTTTAAGGTTAATGCAAATGCCACTGTGAGAAGCAAAGATTCATGTGATAAAGTAATGAGGTCGTACTTTGGAGCAGTAGACTGGGGCAGGATTGTAGAACACATTGAATGCTAACGAACTTTGGGTACAATATAGATTCAGTGGTGATTGTATTAGTCTGTTCTCACACTGTTAATAAAGACAATTTATAAAGGAAAGAGGTTTGATGAACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGCTGGGAGGTGAATGAGGAGCAAAGTCACGTCTTTACATGGCGGCAGGCAAGAGAGCATGTGCAAGGGAACTCCCGTTTACAAAACCATCAGATCTTGTGAGACTTATTCACTATCATAAGAACAGCAGGGAAAGACTTGCCCCCATGATACAATTACCTCTCACTGGGTCCCTCCCACGACACGTGGGAGTTATGGGAGCTACGATTCCAGATGAGATTTGGGTAGGGACACAGCCAAACCATATCAGTGATATTCTGGAGAAAGTACTAGAGAATACAAGCCTGATTAGGAGAGTAATAAATGGTTCTCTGGGGATGAAGTGATAAGTACTATGCACATCCCAGCTAGCTGATAAATGTTTGTTGACTGAATGAGTAAATTTATTTTAAACTATGCCACCTTAG
Seq C2 exon
GTTGATGAAGATGAACCCCTGTTCCTCAGCTTAATCAATGACCTGTTCCCAGGACTGCAACTGGATAGTAATACTTATGCAGAACTGCAAAACGCAGTAGCCCATCAGGTTCAGATAGAGGGTTTGATTAACCATCCACCCTGGAACCTGAAACTCGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721:ENST00000359357:46
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:
PF127742=AAA_6=PD(10.3=53.3)
A:
NA
C2:
NO
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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