Special

HsaEX6056785 @ hg19

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57405094-57410868:-
Coord C1 exon
chr3:57410749-57410868
Coord A exon
chr3:57407245-57407433
Coord C2 exon
chr3:57405094-57405245
Length
189 bp
Sequences
Splice sites
3' ss Seq
AATTTTTTCTCCACCAACAGGCT
3' ss Score
8.28
5' ss Seq
GAGGTATGA
5' ss Score
8.55
Exon sequences
Seq C1 exon
GAACTGATTCCTACAAGCAACAGCAACGTGGTTGTATCTCTCACACGCCTCTTTGAAGTGCTACTTTGCAATGTGGTAGAAAATGATCCTACTAGCAAGCACATTCGTGTTTGGATTATG
Seq A exon
GCTTGCTTTATATTCTCTTTGATTTGGTCGATTGGAGGAAGTTGTGATACAGATGGCCGTCGTGTTTTTGATACTTTCATACGATTAATCATACTGGGAAAAGATGATGAAAACCCAGTGCCAGATTCTGTGGGTAAATGGGAATGCCCATTTGATGAAAAAGGCCTGGTCTATGACTACATGTATGAG
Seq C2 exon
TTGAAAAACAAAGGTCGCTGGGTCCATTGGAATGAATTAATTAAAAATACTAATTTAGGAGATAAACAAATCAAGATTCAAGATATCATAGTCCCTACGATGGACACAATTAGATATACGTTTCTAATGGATTTGAGTATTACCTATGCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'39-40,'39-39,40-40=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF127752=AAA_7=PU(11.7=62.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCAACAGCAACGTGGTTGTA
R:
TTGCATAGGTAATACTCAAATCCATT
Band lengths:
256-445
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains