Special

HsaEX6097414 @ hg19

Exon Skipping

Gene
Description
dynein, axonemal, heavy chain 5 [Source:HGNC Symbol;Acc:2950]
Coordinates
chr5:13701393-13714729:-
Coord C1 exon
chr5:13714514-13714729
Coord A exon
chr5:13708232-13708444
Coord C2 exon
chr5:13701393-13701545
Length
213 bp
Sequences
Splice sites
3' ss Seq
TTTGAATGTCTCCATGGCAGGTA
3' ss Score
7.56
5' ss Seq
AAAGTACGT
5' ss Score
7.99
Exon sequences
Seq C1 exon
AGTTTGCCTGCCTATGACAGCCCTGAGGTGTTTGGGCTGCACCCCAATGCTGACATCACCTACCAGAGCAAGCTGGCCAAGGACGTGCTGGACACCATCCTAGGCATCCAACCCAAGGACACCTCTGGTGGAGGGGATGAGACCCGGGAGGCGGTGGTGGCCCGGCTGGCTGATGATATGCTGGAGAAGCTGCCCCCAGACTATGTCCCCTTTGAA
Seq A exon
GTAAAAGAGAGGCTGCAGAAGATGGGGCCATTCCAGCCTATGAACATTTTCCTCAGGCAGGAAATAGACAGAATGCAAAGGGTACTCAGCCTTGTCCGCAGCACCCTCACTGAGCTGAAACTTGCTATTGATGGCACCATCATCATGAGCGAAAATCTGCGAGATGCATTGGATTGCATGTTTGATGCTAGAATCCCTGCTTGGTGGAAAAAA
Seq C2 exon
GCTTCTTGGATTTCTAGTACACTGGGTTTCTGGTTTACTGAACTTATAGAAAGAAACAGCCAGTTTACCTCGTGGGTTTTCAATGGCCGACCTCACTGCTTTTGGATGACGGGTTTTTTTAACCCCCAGGGATTTTTAACTGCAATGCGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'79-79,'79-78,80-79=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.097 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(10.2=100)
A:
PF0302810=Dynein_heavy=FE(10.1=100)
C2:
PF0302810=Dynein_heavy=FE(7.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCACCCCAATGCTGACATC
R:
CCCGTCATCCAAAAGCAGTGA
Band lengths:
293-506
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains