HsaEX6056785 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57419367-57425141:-
Coord C1 exon
chr3:57425022-57425141
Coord A exon
chr3:57421518-57421706
Coord C2 exon
chr3:57419367-57419518
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-'45-52,'45-51,47-52=AN
Average complexity
A_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:
NO
A:
NO
C2:
PF127752=AAA_7=PU(11.7=62.7)
Main Skipping Isoform:
ENST00000495027fB13955
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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