Special

HsaEX6056764 @ hg19

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57456170-57458398:-
Coord C1 exon
chr3:57458273-57458398
Coord A exon
chr3:57457199-57457333
Coord C2 exon
chr3:57456170-57456363
Length
135 bp
Sequences
Splice sites
3' ss Seq
TCAAATTGTCTTTTAAAAAGCTA
3' ss Score
3.69
5' ss Seq
CAGGTCTGA
5' ss Score
5.06
Exon sequences
Seq C1 exon
GAATCTAAACGCCAAATGAGTTACTTTTTAGATGTTTTCCTATTTCCTCAAGAAGACTTAGCTTTAAATGCAACTGTCCTCATGTGGCCTAGGAAAATTAATCCCATCTTTGATGAAAATGATGAG
Seq A exon
CTAATTGAGAATGCTAAACATAAAAAAGAAAATGAACTAATGGCCAAGAGAGAGAAACTTATTTTGGAAATAGAAAAAGAATCACGCCGCATGGAGGAGTTTACAGAATTTGCAGAGCTGGAGCGCATGCAACAG
Seq C2 exon
TATGTGACAGATGTAAGACAACTACAAAAACGTATTCAGGAATCTGAAGAAGCAGTGCAGTTTATTAATAAAGAAGAGGAACTTTTCAAGTGGGAATTGACAAAATATCCTGAACTGGATAAATTAAAAGTTAACATTGAGCCCTATCAGAAGTTTTTTAATTTTGTTTTGAAGTGGCAGCGATCAGAAAAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'14-16,'14-15,15-16=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=0.044 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF083938=DHC_N2=PU(6.7=43.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([2])
Chicken
(galGal3)
HIGH PSI
([3])
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTCCTCATGTGGCCTAGGA
R:
CGTTTTTCTGATCGCTGCCAC
Band lengths:
247-382
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains