Special

HsaINT0049585 @ hg38

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78426926-78428707:-
Coord C1 exon
chr17:78428525-78428707
Coord A exon
chr17:78427109-78428524
Coord C2 exon
chr17:78426926-78427108
Length
1416 bp
Sequences
Splice sites
5' ss Seq
AAGGCAGGA
5' ss Score
1.7
3' ss Seq
GTCCGGGGACTGGCTTCCAGGTG
3' ss Score
5.27
Exon sequences
Seq C1 exon
GGTTACCACGAATACATCGATGAGAACCTGCCCCCTGAGAGTCCCTATCTGTATGGCCTGCACCCCAACGCAGAGATTGGCTTTCTGACGGTCACCTCAGAGAAGCTGTTCCGCACTGTCCTGGAAATGCAGCCAAAAGAGACGGACTCGGGGGCAGGCACGGGAGTGTCCCGCGAGGAGAAG
Seq A exon
GCAGGATCTTTGAAACTGCTCCCAAGCGAGAGGAAGGGGGAGGATCTAGAACTGAGGAGGGGGTCACAGGGACTGGCGGCAGTACAGGGGAACTTGCTGGTGAGGTACACTCTGCCCCAGCCTTGGGCTTGGGTATCAGAAACACTGGGGTATGGCCCGCAGGCTGGTCAGCAGGTCCTCAGACGTGGCAGCTGCAGGCTTCGGGTGAGCGTACGGGCCCAGACAAAAGGGATCCTTGGGGGTGTGGATGCGGCTCCAAGAGCATCCCAGCCCTCCACCCTGCAGTCTTCCAGCTTCCCTAGCTGAGCGCCAGGAAGGGCACCGACCATTCCCCACCCTGGCCTGGCCAGCACAACAGCAGTAGCAGCTCGCACCGGGCAGCCGGATGTGCAGGCAGGTACTCCAGAGCCGCTCAGTGGCCACAATGGCAGGTCCTGTTACTGCTCAAAGGATTAGAAGAGTTCAGGGGATGCCAGTGTTCTGAACAAATTCTCGCTTGTCTGGGTGGCTCTGTGCTGCCTCCTGGGTACCTCCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGGCTCAGCCTCCCAGGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTGTATTTGTGGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGATCTCAGGTGACCATCCCGCCTCGGCCTCCTAAAGTGCTGGGGTTACAGGCGTGAGCCACTGTACCTGGCCTGTACTTCTTAATAGAATGTGGAAAGGCTCTATTACGTACTAGCTAAGTACAGGACTTCCCGGTAAAGACTGAATTCTTGATGTGAGACCCTTATTCCTATTAGGTCCAGGACTTTCTCTTAGTCTAATGACTGAAATCAGGAATTGGCTGACAGACGGTGGTGCAGGTGACCACTGCACTGTGTGGGCCACTCCTTAACAGGGTGTGACCAGCATGGTCCCTACAGAAAGCCCACGTAAAGGACAAAGTCGCAATCCCTCAACCGCTGGCTACATTTGACCAGAGGCTGGTGCGTGGGAATGAACAAATGAGGCACCGAGCCAGGTGGCCTGATGCGCTCATGGCCGCGGCTGCAGGGACTTGTAGTGAGATCAGAATGCTCGGAGCCGCTGGCCAAGGCTCCCTCTCCTCATCAAATGTGTGGCTGCACCCATGACCCTGCATTTCTGGCAACTCTACTTGCCTCTTCCCTCCTCTCCAGGACTTGGGGCTGGGAACATTTTGGGCAGGCTCCCTGACCCTGCAGTGGGTGGGGTGGGCTCTTTGCAGTGACAGGGGCTGTCCGGGGACTGGCTTCCAG
Seq C2 exon
GTGAAGGCCGTGCTGGACGACATCCTGGAGAAGATTCCGGAGACTTTCAACATGGCTGAGATCATGGCAAAGGCAGCGGAAAAGACCCCCTACGTGGTAGTCGCCTTTCAAGAATGTGAAAGAATGAACATCCTGACCAACGAAATGCGCCGTTCGCTCAAGGAGCTGAACCTGGGGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:77
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.163 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(10.9=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(10.9=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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATCGATGAGAACCTGCCCC
R:
CCCCAGGTTCAGCTCCTTGAG
Band lengths:
347-1763
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