Special

HsaINT0049587 @ hg38

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78425346-78426600:-
Coord C1 exon
chr17:78426457-78426600
Coord A exon
chr17:78425572-78426456
Coord C2 exon
chr17:78425346-78425571
Length
885 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
3' ss Seq
CGGCTCGTGTGTCCTTGCAGGAA
3' ss Score
10.78
Exon sequences
Seq C1 exon
GGAGAACTGACCATCACGACCGACGTGGAAGATCTGTCCACGGCTCTCTTCTATGACACCGTGCCTGATACGTGGGTGGCCCGGGCCTACCCCTCCATGATGGGCCTGGCGGCCTGGTACGCAGACCTGCTGCTCCGCATCAGG
Seq A exon
GTAAGTGCCGTTTTCTCTGAGAGGCTTCCTAAGACTCGGGGACCGAGTGCCCAGAGCTCGGCACACCCCACACCCTAGAGCCTGCAGGAGCATGGCCAGGAGGCTCCTGGGGGCCTGTCCTCTGTCAGATCAGGGCCAGAAGGGCCTAGCCCATGCCCCTCCCACACCCTGACAGTGCAGCCATTTCCTCCCAAAGGAGGAAAACAAGCCAGGCCGCAGAGCAGCTTCCATCAGCTCCTCCTCAAGCGACCCTCAAAGGGTAAGCCGTCCTCTATAAGGAGCGAGGCAATGAAGGCAAGAGCCTCTTTGGGCTCCTAAATTATCCACAAACAGGAAGCCATTTTCTTCCTGACCCTTCTCTACCTGTTCCCTTGTTTAAAATGGAGCAAACAGCAGCTGGACACGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCAGATCACTTGAAGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTAAAAATACAAAAATAAGCTGGGCATGGTGGCCTGCACCTGTAATCCCAGCTACTCTGGAAGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCGTTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGATACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGACACCAAAGTTGCGTCATGGTAGGTGGCTGGGCTCCATGGCCCCTACTCTGTCCAGCACTTCTAGCTCGCTGAGTGGCCCGTGGAAGGTTCTGGCGTGACCCCTGCTCAGAACGGCCAAGGCCCGGTCGTTCCCATGTCATTCTATGTCCTCTCCTCCTAGCGGCTCGTGTGTCCTTGCAG
Seq C2 exon
GAACTCGAGGCCTGGACGACAGACTTTGCCCTGCCCACCACCGTGTGGCTGGCCGGCTTCTTCAACCCCCAGTCGTTCCTCACGGCCATCATGCAGTCCATGGCCAGGAAGAACGAGTGGCCCCTGGACAAGATGTGTCTGTCTGTCGAGGTGACCAAGAAAAACCGAGAGGACATGACCGCTCCTCCGCGAGAGGGCTCCTACGTGTACGGACTCTTCATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:79
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=0.034
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(6.7=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(10.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACTGACCATCACGACCGAC
R:
AGAGTCCGTACACGTAGGAGC
Band lengths:
358-1243
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