Special

HsaINT0049559 @ hg38

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78475278-78475833:-
Coord C1 exon
chr17:78475669-78475833
Coord A exon
chr17:78475470-78475668
Coord C2 exon
chr17:78475278-78475469
Length
199 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGC
5' ss Score
7.43
3' ss Seq
GATCTCTCCGGTTTCTGCAGGTG
3' ss Score
9.51
Exon sequences
Seq C1 exon
GATCTTGGTGATGAACTCTTATTTGCCAAGCCAAATATCTTCTGCCACTTTGCTCAAGGGATTGGCGATCCCAAATATGTTCCTGTAACCGACATGGCTCCTCTGAACAAGCTCCTCGTGGACGTCCTGGACAGCTACAATGAAGTTAATGCAGTCATGAATTTG
Seq A exon
GTGAGCAGGCTGGAGCTGATAGCAAGGGCACGGGACCTGGACCGGGTCACCCTCTCCGGTTGCATTATCGACATCCGAGTGGCATTGTGTGGGGCTGCGTGGCACACAGTGCACACCTCAGCATGTGCAGAGTCCGTGCTGGTGACAGAGGTGATTCCAGGTGCTACAAGATGTTGTGGGATCTCTCCGGTTTCTGCAG
Seq C2 exon
GTGCTGTTTGAGGACGCCGTGGCTCACATCTGCAGGATTAATCGCATCCTGGAGTCTCCCCGGGGGAATGCCCTGCTGGTGGGGGTGGGCGGCAGTGGCAAACAGAGCCTCTCCCGCCTGGCAGCGTACATCAGCGGGCTTGACGTGTTTCAGATCACCCTCAAGAAGGGCTACGGGATCCCCGACCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:53
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:
PF127802=AAA_8=PU(3.4=16.4)
A:
NA
C2:
PF127802=AAA_8=FE(23.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGAACAAGCTCCTCGTGGAC
R:
GGATCCCGTAGCCCTTCTTGA
Band lengths:
244-443
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