HsaEX6017600 @ hg38
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195737703-195754514:-
Coord C1 exon
chr2:195754337-195754514
Coord A exon
chr2:195740766-195740869
Coord C2 exon
chr2:195737703-195738127
Length
104 bp
Sequences
Splice sites
3' ss Seq
TGTGTTTCTTTTATATTTAGGTG
3' ss Score
10.77
5' ss Seq
GTGGTTAGT
5' ss Score
4.94
Exon sequences
Seq C1 exon
CAATGGTATGAGGTTGGTCCTCCTCCAGTCTTCTGGCTTTCTGGCTTCTTCTTCACACAAGCCTTCCTGACCGGTGCCCAGCAGAACTACGCCAGGAAATACACAATTCCTATTGATCTTCTTGGGTTTGACTATGAAGTGATGGAAGACAAAGAATACAAGCATCCTCCTGAGGATG
Seq A exon
GTGTTTTCATTCACGGATTATTTCTGGATGGAGCTTCCTGGAATAGAAAGATCAAGAAACTTGCAGAATCGCATCCCAAAATTCTTTATGATACAGTGCCTGTG
Seq C2 exon
ATGTGGCTAAAGCCCTGTAAGAGGGCAGATATACCAAAACGGCCAAGTTATGTTGCTCCATTGTATAAGACAAGTGAGCGGAGAGGAGTATTATCCACCACTGGCCATTCCACGAATTTTGTGATTGCCATGACTCTTCCCTCTGACCAACCCAAGGAACACTGGATTGGACGAGGTGTAGCACTGTTATGTCAACTTAATTCATAACCAGAAGACATCATTTCCTTGTTCCTATTTCTTGTTGGCTGGCTGAGTAGAGAAAGCATATTTTACTACTTAAACCTTTTTTTTTGTTTGTTTAAATACATTTGACTAAAGTTATAATTATGAATTTACTTATGAGCAAATGCAGCTAAACTTAATATGACTCATACTTAAATGTAAGGAAATGTTCTGAAATAAAGACTAAAGAAAACACACTGGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-'105-118,'105-116,109-118=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(11.7=100)
A:
PF0302810=Dynein_heavy=FE(4.8=100)
C2:
PF0302810=Dynein_heavy=PD(10.1=92.8)
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:
GGTTGGTCCTCCTCCAGTCTT
R:
TCCTCTCCGCTCACTTGTCTT
Band lengths:
254-358
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains