Special

HsaEX6056771 @ hg19

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57440502-57443947:-
Coord C1 exon
chr3:57443826-57443947
Coord A exon
chr3:57443448-57443730
Coord C2 exon
chr3:57440502-57440621
Length
283 bp
Sequences
Splice sites
3' ss Seq
ATTTGCATGTTTTTCCCTAGTTT
3' ss Score
8.67
5' ss Seq
CTGGTGTGT
5' ss Score
4.96
Exon sequences
Seq C1 exon
GTTCTTGCTGCCACTTCTTTAACAGGTTTATTGGAAAAACTACAGAACTGCAATGAACTTTTGGAGAAAATTATGAAAGGTCTTAACGCATATCTTGAAAAGAAACGTCTTTTCTTCCCTCG
Seq A exon
TTTTTTCTTCTTATCTAATGATGAAATGTTAGAGATTTTATCAGAGACCAAAGATCCACTTAGAGTTCAGCCACATTTAAAAAAATGCTTTGAGGGCATTGCTAAATTAGAGTTCCTTCCCAATTTGGACATTAAAGCCATGTATAGCTCTGAGGGCGAGCGAGTGGAGCTGATTGCACTCATTTCCACGTCTGCAGCGCGGGGTGCTGTGGAAAAGTGGCTCATTCAAGTGGAAGACCTAATGCTCCGGAGTGTTCACGATGTGATCGCTGCAGCCAGGCTG
Seq C2 exon
GCTTATCCAGAATCTGCAAGAAGAGACTGGGTTCGAGAGTGGCCTGGCCAAGTTGTACTTTGTATTTCTCAAATGTTCTGGACATCTGAGACACAGGAAGTGATAAGTGGCGGGACGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'23-24,'23-23,24-24=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=0.000
Domain overlap (PFAM):

C1:
PF083938=DHC_N2=FE(9.5=100)
A:
PF083938=DHC_N2=FE(22.4=100)
C2:
PF083938=DHC_N2=PD(0.5=5.0)


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
([1])
Chicken
(galGal3)
HIGH PSI
([2])
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGCTGCCACTTCTTTAACAGG
R:
CGTCCCGCCACTTATCACTTC
Band lengths:
236-519
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains