Special

HsaINT0049574 @ hg38

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78450254-78450846:-
Coord C1 exon
chr17:78450682-78450846
Coord A exon
chr17:78450395-78450681
Coord C2 exon
chr17:78450254-78450394
Length
287 bp
Sequences
Splice sites
5' ss Seq
AAGGTCAGA
5' ss Score
6.8
3' ss Seq
CCCCTTTTGTTTGTGTCGAGGTG
3' ss Score
5.63
Exon sequences
Seq C1 exon
GCAAACCTCACCAAGTCTCAAAACGAATTTAAGATTGTTCTGAAAGAGCTGGAAGATTCGCTCCTGGCCCGTCTGTCGGCTGCGTCGGGGAACTTTCTGGGAGACACGGCCTTGGTGGAGAATCTGGAGACCACCAAGCACACAGCCAGCGAGATCGAGGAGAAG
Seq A exon
GTCAGAGCTGCCTCGGTGACGTGCCCTGGCAGCCAGGGCTTGGGAGGCTGGGCCACGGGCGATCGGCGCCTCCCTACCATGAGAAAGGAGAAAAGCAGCTTCGGTCATACGTGCCCGAGTGGGCCCAGGGCAGGAGAAGGGGTCTGGGCTCCCATCCTGCACCCAGCTGCTGCTGAGAGCCCTTGGGTGGCTTCCCAGGGAGCGAGGCTGGTGGCTGGGAATGAGCCCACCTGCTCATGGCACTGCCCATCTGCTGTGTCATTCACACCCCTTTTGTTTGTGTCGAG
Seq C2 exon
GTGGTGGAGGCAAAAATCACAGAAGTTAAAATCAACGAAGCGAGAGAGAACTACCGCCCGGCTGCGGAGAGGGCATCTCTGCTCTACTTCATACTGAACGATCTCAACAAAATCAACCCCGTCTACCAGTTCTCCCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:67
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:
PF127812=AAA_9=PD(22.8=94.5)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTCACCAAGTCTCAAAACGA
R:
GGAGAACTGGTAGACGGGGTT
Band lengths:
296-583
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