HsaEX6056777 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57444697-57446270:-
Coord C1 exon
chr3:57446031-57446270
Coord A exon
chr3:57445174-57445419
Coord C2 exon
chr3:57444697-57444816
Length
246 bp
Sequences
Splice sites
3' ss Seq
TCATTTATTTTATACTTCAGGTT
3' ss Score
9.16
5' ss Seq
CTTGTAAGT
5' ss Score
8
Exon sequences
Seq C1 exon
TTTTTTAAAGGACTGGCTTCTTCTGGTGCTTGGGCTTGCTTTGATGAATTCAATCGAATTGAGTTGGAAGTGTTGTCAGTGGTAGCTCAACAGATCCTTTGCATTCAGAGAGCTATTCAACAGAAGTTGGTTGTGTTTGTTTTTGAAGGGACAGAACTTAAGCTCAATCCGAATTGTTTTGTAGCTATTACCATGAATCCTGGCTATGCAGGACGCTCTGAATTGCCGGACAATCTTAAG
Seq A exon
GTTCTTTTTAGAACAGTGGCTATGATGGTTCCAAACTATGCGCTTATAGCAGAAATCTCCCTCTACTCTTACGGATTTTTGAATGCAAGACCTCTGTCTGTGAAAATAGTAATGACCTATAGGCTTTGCTCAGAGCAGCTCTCATCGCAATTTCATTACGACTATGGAATGCGAGCAGTAAAAGCCGTTTTAGTGGCTGCTGGCAATCTAAAACTAAAATACCCAAATGAAAATGAAGATATACTT
Seq C2 exon
CTTCTTCGATCAATTAAAGATGTAAATGAACCAAAGTTTTTATCACATGATATACCTTTATTTAATGGAATAACTAGTGACTTATTTCCTGGTATTAAACTTCCTGAAGCTGACTATCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'35-41,'35-40,36-41=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:
PF127742=AAA_6=FE(34.2=100)
A:
PF127742=AAA_6=PD(32.0=90.2)
C2:
NO
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:
TGGAAGTGTTGTCAGTGGTAGC
R:
GTGATAGTCAGCTTCAGGAAGT
Band lengths:
296-542
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains