Special

HsaEX6056756 @ hg38

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57507643-57509212:-
Coord C1 exon
chr3:57509140-57509212
Coord A exon
chr3:57508382-57508540
Coord C2 exon
chr3:57507643-57507838
Length
159 bp
Sequences
Splice sites
3' ss Seq
ATGGTGTTTTGCTTTTCCAGAGG
3' ss Score
8.83
5' ss Seq
TAGGTAAAA
5' ss Score
6.02
Exon sequences
Seq C1 exon
TGCAGAGCGTTCTTGTGAAACCACCAGTTAAATCGCTTGAAGATGAAGGAGGTCCTTTACCTGAATCTCCTGT
Seq A exon
AGGCCTAGATTATTCTAATCCTTGGCATTCTAGCTATGTGCAGGCAAGAAATCAAATATTCTCTAATTTGCACATTATTCATCCAACTATGAAAATGTTACTGGACCTTGGTTATACAACATTTGCTGATACAGTTTTGTTGGACTTCACAGGAATTAG
Seq C2 exon
AGCTAAAGGTCCAATTGACTGTGAATCACTGAAAACTGATCTATCAATACAAACTAGAAACGCAGAAGAGAAGATAATGAATACATGGTATCCAAAGGTTATAAATCTCTTTACCAAGAAGGAGGCACTAGAAGGTGTTAAACCTGAAAAATTGGATGCATTTTATAGCTGTGTTTCCACACTTATGTCAAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'6-13,'6-11,7-13=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.480 A=0.037 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
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
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCGTTCTTGTGAAACCACCA
R:
GGAAACACAGCTATAAAATGCATCCA
Band lengths:
246-405
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains