HsaEX6056801 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57309151-57310950:-
Coord C1 exon
chr3:57310717-57310950
Coord A exon
chr3:57309666-57309854
Coord C2 exon
chr3:57309151-57309254
Length
189 bp
Sequences
Splice sites
3' ss Seq
CTTAATTTGTTTTCTGGTAGAAA
3' ss Score
5.53
5' ss Seq
AAGGTAATG
5' ss Score
8.99
Exon sequences
Seq C1 exon
TTATTTATCAATGAATATGATACAATTCCATTTGAAGCTATATCTTACCTGACTGGGGAGTGTAATTATGGAGGAAGAGTGACAGACGATTGGGACAGACGTCTTCTATTAACCATGCTGGCTGACTTTTATAATCTGTACATAGTTGAAAACCCTCATTATAAGTTTTCTCCCAGTGGAAACTATTTTGCACCTCCTAAAGGCACTTATGAGGACTACATTGAATTCATTAAG
Seq A exon
AAACTTCCATTTACTCAACACCCTGAGATATTTGGATTACATGAAAACGTTGACATCTCCAAGGATCTTCAACAAACAAAAACCCTCTTTGAGTCCTTGCTCCTCACCCAGGGAGGCTCCAAACAGACAGGAGCCTCAGGAAGTACTGATCAGATTCTGTTAGAAATTACCAAAGATATCCTCAACAAG
Seq C2 exon
CTCCCTAGTGATTTCGACATTGAAATGGCACTACGGAAGTATCCTGTGAGATATGAAGAAAGCATGAATACTGTGTTAGTACAAGAAATGGAAAGATTTAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'92-99,'92-98,93-99=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.016 C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=PD(1.1=3.8),PF0302810=Dynein_heavy=FE(19.2=100)
A:
PF0302810=Dynein_heavy=FE(15.5=100)
C2:
PF0302810=Dynein_heavy=FE(4.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTACCTGACTGGGGAGTGT
R:
TGCTTTCTTCATATCTCACAGGA
Band lengths:
256-445
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains