HsaEX6056788 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57408280-57415564:-
Coord C1 exon
chr3:57415426-57415564
Coord A exon
chr3:57413746-57413912
Coord C2 exon
chr3:57408280-57408535
Length
167 bp
Sequences
Splice sites
3' ss Seq
ATTCTTCCTTCATATTTTAGAAC
3' ss Score
9.98
5' ss Seq
TTGGTAACT
5' ss Score
4.27
Exon sequences
Seq C1 exon
GCCACTCCTTTTTGTGGGTCCAACGGGTACAGGAAAATCTGTGTATGTGAAGGATAAGCTAATGAATCACTTGGAAAAGGACCAGTACTTTCCTTTTTATATTAACTTATCTGCACGGACCAGCGCCAATCAGGTTCAG
Seq A exon
AACATTATCATGGCTAGATTGGATAAAAGACGCAAAGGAGTCTTTGGACCACCTATGGGAAAGAAGTGTATAATTTTTATAGATGATATGAATATGCCTGCATTGGAGAAGTATGGAGCTCAACCACCTATTGAATTATTACGACAGTTTTTTGACTGTGGACATTG
Seq C2 exon
GTACGACCTTAAGGACACAAGTAAAATCACGCTGGTGGACATAGAGCTGATTGCTGCAATGGGCCCTCCAGGTGGTGGAAGAAATCCAGTTACTCCCCGTTGTATTCGACATTTCAACATCTGCAGTATTAATTCTTTTAGTGATGAAACTATGGTCCGAATCTTCTCATCTATTGTAGCATTCTACCTTAGAACTCATGAATTTCCTCCAGAGTACTTTGTAATTGGGAACCAGATAGTCAATGGGACTATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'50-55,'50-54,51-55=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:
PF127752=AAA_7=FE(16.8=100)
A:
PF127752=AAA_7=FE(20.1=100)
C2:
PF127752=AAA_7=FE(31.1=100)

Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTTTTTGTGGGTCCAACGG
R:
ATGTCGAATACAACGGGGAGT
Band lengths:
246-413
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains