HsaINT0049568 @ hg38
Intron Retention
Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78458565-78459208:-
Coord C1 exon
chr17:78459001-78459208
Coord A exon
chr17:78458681-78459000
Coord C2 exon
chr17:78458565-78458680
Length
320 bp
Sequences
Splice sites
5' ss Seq
GCCGTAAGT
5' ss Score
10.11
3' ss Seq
TTTCCAACTTGGTTTTGCAGGAA
3' ss Score
9.65
Exon sequences
Seq C1 exon
GCCCTACCAAGGCAACCCGACGTTCGACCCCGAGTTCATCCGCTCCAAGTCCACGGCCGCCGCCGGCCTGTGCTCCTGGTGCATCAACATCGTCCGCTTCTACGAGGTCTACTGCGACGTGGCGCCCAAGAGGCAGGCACTGGAGGAGGCTAATGCAGAGCTGGCAGAGGCACAAGAGAAGCTGTCCCGGATCAAAAACAAGATTGCC
Seq A exon
GTAAGTGCCGGCTCGCTCCCGTCCCTGCGAAACACCAGAGCCGCTTGCTCGCGCTGCCAGTCAATACCTCTGTTGAAAATGGGTTGGCACGGCCCGCCGTCATGAATTATTCAGCAGTGCAAGAGGATGCAGGCAGAGGCAGGGGCCAGATGGTGCCGGGAGCCGCTTGGTGTCCTTAGCCTCCATGCTCCAGAGGGCTCTCAGCCTTTGTGGGAGCCTCTTCCACGCTCAGCGCTCACAGGGCCCAGCCCTGCTGCCGCTGCAGGGGGCTAGAGATGCCTCGTGGGGTTTTCCAGCAGCTTTCCAACTTGGTTTTGCAG
Seq C2 exon
GAACTTAACGCCAACCTGAGCAACCTAACCTCAGCGTTTGAAAAAGCAACAGCTGAGAAAATCAAGTGTCAGCAAGAGGCCGATGCCACGAACAGGGTGATCTTACTGGCGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:61
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:
PF127772=MT=FE(20.1=100),PF041569=IncA=PU(38.4=54.3)
A:
NA
C2:
PF127772=MT=FE(11.0=100),PF041569=IncA=FE(38.4=100)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTACCAAGGCAACCCGA
R:
TCGCCAGTAAGATCACCCTGT
Band lengths:
319-639
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