Special

HsaINT0049578 @ hg19

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein, axonemal, heavy chain 17 [Source:HGNC Symbol;Acc:2946]
Coordinates
chr17:76440686-76441762:-
Coord C1 exon
chr17:76441640-76441762
Coord A exon
chr17:76440880-76441639
Coord C2 exon
chr17:76440686-76440879
Length
760 bp
Sequences
Splice sites
5' ss Seq
AAGGTTCGT
5' ss Score
8.44
3' ss Seq
CCCGCTGCCTCTGCCCCTAGGCC
3' ss Score
12.84
Exon sequences
Seq C1 exon
GTCCTGTCCATGAAGAAGGAGCTGAACCCAGTGGAGCTGGATTTCCTCCTGCGGTTCCCTTTTAAGGCCGGAGTGGTCTCACCAGTGGACTTCCTCCAGCATCAAGGCTGGGGCGGGATCAAG
Seq A exon
GTTCGTCTTTAGACGTTGAACACGTTGTGCTTTCTCCCCGCCGTGGAGCCCCCTCCAGCTGATGCTGCGGATGTTTCCAAGGCCAGAATACCAGGCTCTGTGGCCCATAAATTCAGTAAAGCAAGGAGGCCCCGCACATAGGGATGGAGACCAAGATGGGCTGGCTGCCAGCTCACAGATAGCTCTGCGTTCCTATAGGGAATGTGACATGTGTTAGGTCCCTGAGACCTGCACACAGCAAGCAGAGAGTGATATCCTCTGGGGGCCAGAAGAGGCCTCAGGGCCTCTTACCATCCCTCCCTCAACCTCTCCTCCTCCCCCCAGCCTCCCCTCCTCCCCCCAGCCTCCCCTCCTCCCAGCGTAAGGGAAGTGGCAAGTGAAAAGTTTGTTCTTCAGATTCCTGGACACAGTCAGGGACCCTCGAGTCTCAAGGTCTGTTCAAAAAGACCTGAAGAAGGTCGTCCCCTGAGCTAGAATGGCCCCATTTGCAGAGACCCCTAGAGAAGCAGCCCCTAGCCCATCCCAGGCCTCATGTCCGCAGGTTAGACCCTGCCGAGGAGGCTCCCGGCGCTGTCCTGGGATGCCTGAGCTGGGCATGGACAGCTCCTGCTTTGGTGGCCAGCCTCTCGGGCTTCCTTATCCCAGAGCCCCGGTTTCCTCGGAGGGTAATGGCCTCTCCTCCTTGAATGAACTGTACAGGAAGGCTCTCGGGACCCGGGTAAGTGGGAAGAGTCACAGGGCCCGCTGCCTCTGCCCCTAG
Seq C2 exon
GCCCTCTCGGAGATGGATGAGTTCAAAAATCTGGACAGTGACATCGAAGGATCTGCCAAGCGCTGGAAAAAGCTGGTGGAGTCGGAAGCCCCCGAGAAGGAGATCTTCCCCAAGGAGTGGAAGAACAAGACGGCCCTGCAGAAGCTGTGCATGGTGCGCTGCCTGCGGCCAGATCGCATGACCTACGCTATCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-DNAH17:NM_173628:70
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:
PF0302810=Dynein_heavy=PU(2.7=48.8)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(11.6=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)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTGTCCATGAAGAAGGAGCT
R:
GCGTAGGTCATGCGATCTGG
Band lengths:
310-1070
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development