Special

HsaINT0049546 @ hg19

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein, axonemal, heavy chain 17 [Source:HGNC Symbol;Acc:2946]
Coordinates
chr17:76488715-76490255:-
Coord C1 exon
chr17:76490118-76490255
Coord A exon
chr17:76488848-76490117
Coord C2 exon
chr17:76488715-76488847
Length
1270 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGT
5' ss Score
6.99
3' ss Seq
GTGACCCCCACCTTCGCCAGGTC
3' ss Score
7.16
Exon sequences
Seq C1 exon
ATCATCAAGCAGAGCATCGTGGAGCTCAAGCTGCAGGCGGAGGACAGCTTCGTGCTGAAGGTGGTGCAGCTGGAGGAGCTGCTGCAGGTCCGCCACTCCGTGTTCATCGTCGGGAATGCGGGCAGCGGCAAATCTCAG
Seq A exon
GTGTGTCACCCGCTCCAGGGACCTTGCAGGGATCCGGCATGGTGGGGGAGGGCTGGGGCGAAGGGTCGGCCCTCCATCACTCCCCGCCACCCCGGAGACCCCAACCCAGTACATCCTGGGAGCCCTCCGGCCTGAGTCATGGGCCAGGGAGGAAGCTGGGGGCCGAGGAGGAGGGGAGGAGCTGCCACAGCCCCTGATCCCTGATCCCTGGGTGAGGCCTCCCTCCCTGTTCCTCCTTGTCTTCCTGCTCTTCTCTCCTTGACGTCAGTCACTTGTCTCCCTGTCCCTGTGGCCGGCCCAACCCATCGCCCTCCTGTCACCTGCCATGGCCTAGGGAGTGGTGACATGTGGAGGGTGGTGGCGGATGTGACTGATGTCTGTGATGTGGAAAATTCCATGCCAGCCAAGTGTCCGGCCAGAGGCCCACAGGCTGGACCCTTCTGCTATTGTTTGAGATCACTCCCACCGCCAGTCACATGGGGAAGCTCACCAGAAGTGATGTTTTAAAAGGCAGAGGCCGCATGGACCCAGTTTCCTAAAAAGGAACTCGGACATACACATACAGGAAATGTCCTCAACCGTGTCTTTAAAGCTCCTTTTCCCTGAATGGAGGATTGTGGGGAGTTTTCCTAGATGGTTTTTCAGTGAGTGCGTATTACTTGTACCATGAGGAAGAAAGGAATGTGAATGTTTTCAGAGCCTCGCACAGTCTAGGGCAAGCAGCTCTCTGCGGGCTGCAGACACGCACAGTGAACAGTTAGCTTCCCATCACCCAGGCCTCCTTCGCCTCAGCCATGGTTGGGGGGTGTAAACTCACCTGTGTGTCTCCAGAGCAAACGTGATCCAGAGAAGGGTTCAGCCTGGTGGTTCATAAAAGGCATCCAGGGCCGGGCGCAGCGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCTGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCGGGTGTGGTCATGGGCGCCTGTAATCCCAGCTACTTGGGAAGCTAAGGCAAGAGAATCACTTGAACCCTGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTCGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAACCATCCAGGCCCACCCATGGTCCTGAGGCTAGTGGGGCAGGATGTGCCAGGAACATGGAGTCACACGTGAGTGACCCCCACCTTCGCCAG
Seq C2 exon
GTCCTCAAATCCCTCAACAAGACCTATCAGAACCTGAAGAGGAAGCCGGTCGCCGTGGACCTGGACCCCAAGGCCGTCACCTGCGACGAGCTCTTTGGCATCATCAACCCAGTGACCAGGGAATGGAAAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-DNAH17:NM_173628:41
Average complexity
IR-S
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:
PF077289=AAA_5=PU(9.5=28.3)
A:
NA
C2:
PF077289=AAA_5=FE(32.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TCATCAAGCAGAGCATCGTGG
R:
CATCTTTCCATTCCCTGGTCACT
Band lengths:
270-1540
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