HsaINT0049578 @ hg38
Intron Retention
Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78444604-78445680:-
Coord C1 exon
chr17:78445558-78445680
Coord A exon
chr17:78444798-78445557
Coord C2 exon
chr17:78444604-78444797
Length
760 bp
Sequences
Splice sites
5' ss Seq
AAGGTTCGT
5' ss Score
8.44
3' ss Seq
CCCGCTGCCTCTGCCCCTAGGCC
3' ss Score
12.84
Exon sequences
Seq C1 exon
GTCCTGTCCATGAAGAAGGAGCTGAACCCAGTGGAGCTGGATTTCCTCCTGCGGTTCCCTTTTAAGGCCGGAGTGGTCTCACCAGTGGACTTCCTCCAGCATCAAGGCTGGGGCGGGATCAAG
Seq A exon
GTTCGTCTTTAGACGTTGAACACGTTGTGCTTTCTCCCCGCCGTGGAGCCCCCTCCAGCTGATGCTGCGGATGTTTCCAAGGCCAGAATACCAGGCTCTGTGGCCCATAAATTCAGTAAAGCAAGGAGGCCCCGCACATAGGGATGGAGACCAAGATGGGCTGGCTGCCAGCTCACAGATAGCTCTGCGTTCCTATAGGGAATGTGACATGTGTTAGGTCCCTGAGACCTGCACACAGCAAGCAGAGAGTGATATCCTCTGGGGGCCAGAAGAGGCCTCAGGGCCTCTTACCATCCCTCCCTCAACCTCTCCTCCTCCCCCCAGCCTCCCCTCCTCCCCCCAGCCTCCCCTCCTCCCAGCGTAAGGGAAGTGGCAAGTGAAAAGTTTGTTCTTCAGATTCCTGGACACAGTCAGGGACCCTCGAGTCTCAAGGTCTGTTCAAAAAGACCTGAAGAAGGTCGTCCCCTGAGCTAGAATGGCCCCATTTGCAGAGACCCCTAGAGAAGCAGCCCCTAGCCCATCCCAGGCCTCATGTCCGCAGGTTAGACCCTGCCGAGGAGGCTCCCGGCGCTGTCCTGGGATGCCTGAGCTGGGCATGGACAGCTCCTGCTTTGGTGGCCAGCCTCTCGGGCTTCCTTATCCCAGAGCCCCGGTTTCCTCGGAGGGTAATGGCCTCTCCTCCTTGAATGAACTGTACAGGAAGGCTCTCGGGACCCGGGTAAGTGGGAAGAGTCACAGGGCCCGCTGCCTCTGCCCCTAG
Seq C2 exon
GCCCTCTCGGAGATGGATGAGTTCAAAAATCTGGACAGTGACATCGAAGGATCTGCCAAGCGCTGGAAAAAGCTGGTGGAGTCGGAAGCCCCCGAGAAGGAGATCTTCCCCAAGGAGTGGAAGAACAAGACGGCCCTGCAGAAGCTGTGCATGGTGCGCTGCCTGCGGCCAGATCGCATGACCTACGCTATCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:70
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:
PF0302810=Dynein_heavy=PU(2.8=48.8)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(11.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTGTCCATGAAGAAGGAGCT
R:
GCGTAGGTCATGCGATCTGG
Band lengths:
310-1070
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