HsaINT0049994 @ hg38
Intron Retention
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38870401-38872782:+
Coord C1 exon
chr6:38870401-38870562
Coord A exon
chr6:38870563-38872535
Coord C2 exon
chr6:38872536-38872782
Length
1973 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
3' ss Seq
TTTACTGGTTAATTGTGTAGTTA
3' ss Score
3.05
Exon sequences
Seq C1 exon
GTTGATGAAGATGAACCCCTGTTCCTCAGCTTAATCAATGACCTGTTCCCAGGACTGCAACTGGATAGTAATACTTATGCAGAACTGCAAAACGCAGTAGCCCATCAGGTTCAGATAGAGGGTTTGATTAACCATCCACCCTGGAACCTGAAACTCGTGCAG
Seq A exon
GTAAAGACATTTTAATCTATTATTAGTATAATGATAAGTATGTGTTAAACATTCCTGTCTGAATAGAAAAACTCATAGTTAGTCTTACTTGATGTAAATGTTAAATGAAAACATCATATATACATCATTGCAAAAAGAATACTTGGAAGGATGTGGTGGTCCTAGGAAGATAGTATGGATTTACCCTGCCTCACAGTAATCAAGCAGTAATTTACTGCAGTTTTTACTTATACCTGGTGACAATGTTGGGCGGAAATAGTAGGTTATAAAAACTCTAGGGGAACGGAACAACGCAGATGTCTTCTTGTGCCAATCTGATAGTACTGGCTGCAGCTGGGTGCCTCAGTGGAGTGCAGAGCCTGAGGAATCTGGGAGTGCTATTTTGCTCCTGCTTTGTGTGTGGACATGTTATATCCTTCACCTACACTAAAACCTGAATCTTTTGACTGCATATGTTGGTGTCTTTCTGTTCATCACATTTCATCCTTGTGACAACCATCTAACCACTTGATTGGATTACCAGTAGAATCAAGAACTTGTAGCAGAGACACAGGATTAAATCTCTATGAGCTTGATGCTTTGGGAATATTTTCCAGAGCTTTTGGAAAATTAAGGAGCTGAAATTGTGGACATTGTTGAAAACTGCATTTGAAATATTAATATAACGATTCTTATTTTAACTTACTGTTCTTGCCAGATTATAAGATGTGCAAGTATCTGAGATACATCCAAATCTTACAAAGAAATATGTGCATGGGGGAAAAGTCTTTTTCATCATTCATGTACTGGAAACCATTTTAAGAGTTTAAAAAATTTCTGGGAAAACATGATTTTATATATGATATGCATACAGTATACTGAGTTTTAAAATTCTTGCCATCTCAATGGGTGGCGACTAGAATTTTGGGTTCTTTGTTGATGTCAATAACATTGCTCTTGAACATGTCAGGAACAGTGCCTCTGTTGCTTTTAAACTATAGTTTACAATGGTAATACATTTCTGTCCAAAATGTTAGGAGAATAACTCACTCTCCCTCTGATCAGCTGTCAGACCTTTGACTTCTTAATTTTTTTAATGAGAAAACTGCAGACGGGATGTTATAGCAGCGGCTGTCCATGATCCTAGCATGTCTCCTCGAATCTCTTGTACCATTTCCACGTGCCCCTGCCCAGCTTCTGTGTGTTTTCGCTTCTAATAGCAAAAGGAGGCCTGGAGCCATTTTGTTGGCAGGCACAAAGAGTAGGTGCTGCACGGGAGTTTATTTCCCATCCACCCCCAAACAAACGTCTCTAAGAGTTGATGGAGTAGGAAAGTCAAGCTTGCCTGGTTCCAGGTGGAGCAATCTTTGAGGTGTAAGTTACACTCCAGTCTCCCGAGGGATCAGGCTCAAGTCTGTCCTCTACAGGGCTTTGTCCTCAATCACACCTTGCTTGGCTTCTTCCCATTCCTGTCCTGCTTTCCTCTTCTCTTACTGGTTTCTCCTGGGAGCACTACCTGAATAAATCACTTGCACAGGAATCCTCATTCATGATGTACTTCTGGGGAATTAGAAGGCCCCTTTGAAACGGATCTTCACTGTGATGCTCTGCGTTGCTGCTTTCCACCACTAAGGGGCGATATCATCACATTGGATGCCGAGAAAGTTTGCGCATGGAACAACTGCTGGTTATAGACCAACAAGCCAAAATCACAGGGAATCATCACGCAAGAAGCAAAAACTAGATGCTGAGTTAATTATTTCCAAAATGTAATTCAAGCTCCACATTGTTATTACTTTAGCACATATCGTTTTATAACGTGGTGCTCATTTGCTATGCACATCTAGTAAAACAACATTTTTTACAACTTAAAAATAGTGAACTAGTTACGTTAATGAAGAGCTTATTAAAGCCTTTAATCTTCAAGTAGCTACTATGAATGTCAGCAAGAGACTCATAAATTACATATTTTAATTTACTGGTTAATTGTGTAG
Seq C2 exon
TTATATGAGACGTCTTTGGTACGGCATGGCTTGATGACTCTTGGGCCCAGTGGTTCTGGAAAGACAACCGTTATCACGATTCTAATGAAGGCGCAAACAGAATGCGGAAGGCCTCATAGAGAAATGCGAATGAATCCAAAAGCCATTACTGCACCTCAGATGTTTGGCAGACTGGACACTGCTACCAATGACTGGACAGATGGGATTTTTTCTACTCTGTGGAGAAAAACATTAAAAGCTAAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721:ENST00000359357:47
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=0.133
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF077289=AAA_5=PU(53.3=88.0)
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:
GAACCCCTGTTCCTCAGCTTA
R:
CCAGTCATTGGTAGCAGTGTCC
Band lengths:
345-2318
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