Special

HsaEX6056774 @ hg19

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57432264-57439130:-
Coord C1 exon
chr3:57438974-57439130
Coord A exon
chr3:57438570-57438742
Coord C2 exon
chr3:57432264-57432416
Length
173 bp
Sequences
Splice sites
3' ss Seq
TTTTACTTTATTTTTTCTAGGTG
3' ss Score
11.42
5' ss Seq
TTGGTATGC
5' ss Score
5.91
Exon sequences
Seq C1 exon
GGATTAAAGAAGTATTATAAGGAACTTCAGAACCAACTGAATGAGATTGTAGAGCTGGTAAGAGGAAAGTTGTCTAAGCAGACCAGGACCACTCTGGGGGCTTTGGTTACTATTGATGTCCATGCTAGAGATGTGGTCATGGACATGATTAAAATGG
Seq A exon
GTGTCTCACATGATACAGATTTCCTGTGGCTTGCTCAGCTCCGATATTATTGGGAAAATGAGAATGCCCGAGTTCGTATCATTAATTGCAATGTAAAATATGCTTATGAATATCTTGGTAACTCACCTCGACTTGTCATTACGCCTCTAACTGACAGGTGTTACAGAACATTG
Seq C2 exon
ATAGGTGCTTTCTATTTAAACCTTGGAGGTGCTCCAGAGGGGCCAGCAGGCACAGGAAAAACCGAAACCACCAAGGACTTGGCTAAAGCTCTTGCTGTACAGTGTGTGGTGTTCAACTGTTCTGATGGGCTAGATTATCTAGCAATGGGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'26-27,'26-26,27-27=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=0.000 A=0.000 C2=0.098
Domain overlap (PFAM):

C1:
NO
A:
PF127742=AAA_6=PU(10.4=41.4)
C2:
PF127742=AAA_6=FE(21.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
([2])
Chicken
(galGal3)
ALTERNATIVE
([3])
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGAATGAGATTGTAGAGCTGGT
R:
ACAGTTGAACACCACACACTGT
Band lengths:
242-415
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains