HsaINT0049563 @ hg38
Intron Retention
Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78461544-78463077:-
Coord C1 exon
chr17:78462844-78463077
Coord A exon
chr17:78461709-78462843
Coord C2 exon
chr17:78461544-78461708
Length
1135 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
3' ss Seq
CTCGGTTTCTCCTTCCCCAGGTG
3' ss Score
10.33
Exon sequences
Seq C1 exon
TGGGAAGTCAAGGCCTCCATCAGCTTCTTCATGTCCTACGTGCACACCACCGTCAACGAGATGTCCAGGGTATACCTGGCTACTGAGAGGCGCTACAACTACACCACACCCAAAACCTTTCTGGAGCAGATCAAACTGTACCAGAACCTGCTGGCCAAGAAGAGAACGGAACTTGTTGCCAAAATCGAGAGGCTGGAGAACGGCCTGATGAAGCTGCAGAGCACGGCTTCCCAG
Seq A exon
GTAGGAGAGGGGGGCTGGCTGCCAGCTCCTGTGCCGTTCCCTGGAGGCCTCGCAGGAGCTGCTACTGTCACAGGCATCCACGGGCTGGTCACACTGGGGCTCAGCACTGCCTAAAGTAAGATGAGCACGCTTCCTGCCTTTGAGAAGCATTTACTCCTAGGCCAGAGTTAGTATACTTGTCGTAACAAAAAACAGACTCAAAATGCTTTCACAATGTTGATTGTATGGAGGGCGCATTACACAGGGGATGGCACCTGCCCCATGTCGGGTGAGATTTGATCATCATGCCCAATGCAGTCAATACAAATGCATTTGTTCATTCGTAAATACCATTCATACCATGGGGCCTGGCTCAAAAACCTCCCTGGATCCTTTCCTCCACACCGTATGGATCTTGAAGGGTTCTGCCTGCTTCAGACCTCCTCCATCGTGCAGTCCCGGCTCCTTCATCTTTATTGCCCACCATTGACACCCTGTGAGGGGGCCTGAAAATAGCTGCCACCTCCCTGCTGGAGTTGTGAACAGACTGGGACCTCCCACTTGCTTCCAGGGGAGCTTTCGCACCCCTGCCCCCACCCCCCCACCCCCCTACCAAACTCTCGCTGTCACTCTCCCACCAGCCTGGAGGGGCCCTGGCCAGCCCTGCTCGGCACTGCAACTCACTTGGCATTTGAGACAGAGTCTCGCTCTGTCATCCAAGCTGGGATGCAGTGGTGCGATCGTGGCTCACTGCAGCCTGGACTTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAGGTAGCTGGGACCATGGGCACAGGCCACCATGCCTTGCTAATTTTTTTTATTATTTATACAGACAGGGTCTCACTCGGTTGCCCAGGCTGCAGTTGATATGTTTCTATTCAGTCACCTTGCCAACTCCTTTGAGCACCAGGAATGTCTCATACTTGTGACCCTGTGTACGCAGTCAGGGTTTATAACTTACTTTTAAGATATTGAAAAGACTCTCCAAAACGAGTCACTGGGAGTCGTAAGACACGGCCCTGCCGTTCTGCCCCTCTGTGGCTCCCAGCCCTCGTCTGCCCAGTGCAGGGCGGCGTGTGTCGGCTGCGGCCCACACTTGCTGTTTCTCGGTTTCTCCTTCCCCAG
Seq C2 exon
GTGGATGATTTGAAAGCCAAGTTGGCGATTCAGGAGGCTGAGCTCAAGCAGAAGAATGAGAGCGCAGACCAACTGATCCAGGTGGTCGGCATCGAGGCCGAGAAGGTCAGCAAAGAGAAGGCCATTGCTGACCAGGAAGAAGTCAAGGTCGAGGTCATCAATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:57
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=PD(18.7=64.1),PF127772=MT=PU(4.4=19.2)
A:
NA
C2:
PF127772=MT=FE(15.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAAGGCCTCCATCAGCTTC
R:
ATGGCCTTCTCTTTGCTGACC
Band lengths:
353-1488
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