HsaINT0050021 @ hg38
Intron Retention
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38923991-38926210:+
Coord C1 exon
chr6:38923991-38924162
Coord A exon
chr6:38924163-38926054
Coord C2 exon
chr6:38926055-38926210
Length
1892 bp
Sequences
Splice sites
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
3' ss Seq
ATCCATTTCCTGTTGTTCAGATT
3' ss Score
6.06
Exon sequences
Seq C1 exon
ACTTGTAGGTGATATTCTGCTGTGCACGGGATTCCTTTCCTACCTTGGTCCTTTCAATCAGATATTTAGGAACTATTTGCTTAAAGATCAATGGGAAATGGAGTTGAGAGCACGGAAAATTCCTTTCACAGAAAACCTGAATCTTATTTCAATGTTGGTGGATCCTCCAACT
Seq A exon
GTAAGTTTTACTTTCCCAATGTTATTTGAATTTCAGTCTCATTTTATTTCTTACTTACTGAGAAACCCGGCTGGGTGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTAACCAACATGGTGAAATCCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGATGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAACCAGGGAGGCAATGGTTCCGAGATCACGCCACTCCACTCCAGACTGGGCAACAAGAGAGAAACTCCATCCCCCCCCCAAAAAAAAGAAACCCAGGTTCATTGAATTTTTTCTTTAACTGGGAAGATTGTTTTGAAAGTGCTTAAGAGTTTTTTTAAAAATAATTTTCTTTATGGTATAAATGTTTCTTTGCGTTTTAAGTAATCTTGCTTCCAAATTAAGACCAATTGCATTGCTATGAACTGAAAGATCATTTGAGAGATATCAGCTTGCTAATACTGGGCCCTTCTTATAACTCTTCATTATTTACACCACTCCTGTGAAGTCATACTCTCTTTCAAACATTTTAGGCAAATGTAGGCATGATCTGTGCTGGTATTAACCTTATTTTCATTATTTGCTATCTTTTTTAGTGTCTAAAAACGTAACAGAATAGCATGTTCTGGTGACCCTAAGTAATAGCAAGTCCTTTCATACTAACCTTCCTTGCTGGGAATTCGATGCCACTGTCAATTTCCGGTATATCTTGCAGAGCTTCTGTTGTAATAAATGCTTTCCAGGCAATTTGTATTCATGAGTTGCTTTTCTGGTTTGCAAATCTGCTCTCCAGTTGCTGTTTCCTTAGGGGATGCCAAGCTATTAATTTCATATTATCTGTATTTAAAAGTTAAAAACTAATCTTTTCCAATTCGAACATTGTTGAATTCACCCTTACAGGGAATAGATTATGTCTTGGAGATGCACTGGGCACTGGTGAAGCAAAGTGGGCCAGAATATTCTTTATTAATTATGGCCTTTGGGGGTCCTGGGATAATTTAACAAAGGTGGAGGCTGGTTGGCTCATTGGATCTCTGATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTAGAGACAAAGTCTTGCTCTGTAGCCCAGACGGAAGTGCAGTGCTGTGATCATGGCTCACAGCAGCCTCAAATTCCTGGGCTCAAGTGACCCTCCCAGACTCCCAAAATGCTGGGATTATAGGCATGAACCACTGCGCCTGGCCCGGTGATTTTATTGATCACATGGTGGGAGGCTGGCAATCCCCTCTAAATTTGGAGAAGGAAATATTCACAAAAGTGTCATTGATGAGCTCCGGCCAATATAATAACTCATCTAATTTATCTCCAGCTATGCAATCACCCATACACCATGTGGGCAGAACCAAAGGGCCGGAAGGGGAAGCTATCAGGGGCTAATTGCCTGGGACTTACCTTGTTCTCTGACATTTCATTATATTCACTATCTCCATTAACCCCAAATCAGGTTTAATATGCAATCAACTTGCTATGATTCCCCTAAGTATGAAAATACAATGCAAAAGGATAAACCTTGTCTTGGGTAATTAAAGAAGGGATTCATTAGATAATAAATTTGTTTTTTTTTAATGTGAATGTTATTTGGTTCACATTTACAAGTTTGCTTTTTTTCGAAGTACAAGTTGCATAGTCTCAAAGGAAAATAATGTCCACATTTTAAATTATTTTACTTTACAGTACTTTTAATTACTAATGAGGGCATTCCTGTTCTCCTTTGAATGGTGATATCCATTTCCTGTTGTTCAG
Seq C2 exon
ATTGGTGAGTGGGGGCTACAGGGATTACCAGGAGATGATCTCTCAATTCAGAATGGCATTATTGTGACAAAGGCCACCAGATACCCACTCCTCATAGACCCACAAACTCAAGGCAAAACTTGGATTAAATCAAAGGAAAAAGAAAATGATTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721:ENST00000359357:71
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=0.038
Domain overlap (PFAM):
C1:
PF127772=MT=PD(10.0=60.3),PF127812=AAA_9=PU(2.6=10.3)
A:
NA
C2:
PF127812=AAA_9=FE(22.1=100)
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:
ACTTGTAGGTGATATTCTGCTGTGC
R:
TTCCTTTGATTTAATCCAAGTTTTGC
Band lengths:
310-2202
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