Special

HsaEX6056796 @ hg19

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57357164-57368637:-
Coord C1 exon
chr3:57368493-57368637
Coord A exon
chr3:57357497-57357647
Coord C2 exon
chr3:57357164-57357288
Length
151 bp
Sequences
Splice sites
3' ss Seq
ATATCTTTTCTCTTCAACAGATA
3' ss Score
10.97
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
GCAACATTTTTGTGAACATATATATGAATGGCGAGAAATCTATGACAGTAAAGAGCCACATAATGCTAAATTTCCAGCACCAATGGATAAGAACCTAAATGAACTACAGAAAATAATAATTCTTCGGTGTTTAAGACCTGATAAG
Seq A exon
ATAACCCCAGCTATAACAAACTATGTAACTGACAAACTAGGGAAAAAGTTTGTAGAGCCTCCACCATTTGATTTGACAAAGAGTTACTTGGATTCAAATTGCACCATTCCCTTAATTTTTGTTCTATCTCCAGGAGCAGATCCTATGGCCA
Seq C2 exon
GCCTGCTGAAATTTGCAAATGATAAATCTATGTCTGGAAATAAGTTTCAAGCTATTTCACTGGGACAGGGACAAGGACCGATTGCAGCAAAAATGATTAAAGCAGCAATTGAAGAAGGAACTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'51-53,'51-52,52-53=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.056 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(18.0=100)
A:
PF0302810=Dynein_heavy=FE(18.7=100)
C2:
PF0302810=Dynein_heavy=FE(31.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([2])
Chicken
(galGal3)
ALTERNATIVE
([3])
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAATGGCGAGAAATCTATGACAGT
R:
CCAAGTTCCTTCTTCAATTGCTGC
Band lengths:
246-397
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains