Special

HsaEX6056772 @ hg38

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57453247-57458003:-
Coord C1 exon
chr3:57457721-57458003
Coord A exon
chr3:57454775-57454894
Coord C2 exon
chr3:57453247-57453403
Length
120 bp
Sequences
Splice sites
3' ss Seq
AATTTATTTTAATTGTTCAGGCT
3' ss Score
5.77
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
Exon sequences
Seq C1 exon
TTTTTTCTTCTTATCTAATGATGAAATGTTAGAGATTTTATCAGAGACCAAAGATCCACTTAGAGTTCAGCCACATTTAAAAAAATGCTTTGAGGGCATTGCTAAATTAGAGTTCCTTCCCAATTTGGACATTAAAGCCATGTATAGCTCTGAGGGCGAGCGAGTGGAGCTGATTGCACTCATTTCCACGTCTGCAGCGCGGGGTGCTGTGGAAAAGTGGCTCATTCAAGTGGAAGACCTAATGCTCCGGAGTGTTCACGATGTGATCGCTGCAGCCAGGCTG
Seq A exon
GCTTATCCAGAATCTGCAAGAAGAGACTGGGTTCGAGAGTGGCCTGGCCAAGTTGTACTTTGTATTTCTCAAATGTTCTGGACATCTGAGACACAGGAAGTGATAAGTGGCGGGACGGAG
Seq C2 exon
GGATTAAAGAAGTATTATAAGGAACTTCAGAACCAACTGAATGAGATTGTAGAGCTGGTAAGAGGAAAGTTGTCTAAGCAGACCAGGACCACTCTGGGGGCTTTGGTTACTATTGATGTCCATGCTAGAGATGTGGTCATGGACATGATTAAAATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'26-35,'26-34,27-35
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

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

C1:
PF083938=DHC_N2=FE(22.4=100)
A:
PF083938=DHC_N2=PD(0.5=5.0)
C2:
NO


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)
HIGH PSI
([2])
Chicken
(galGal3)
HIGH PSI
([3])
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTATAGCTCTGAGGGCGAGC
R:
AGTAACCAAAGCCCCCAGAGT
Band lengths:
254-374
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains