HsaEX0020209 @ hg38
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195824255-195845165:-
Coord C1 exon
chr2:195845002-195845165
Coord A exon
chr2:195834206-195834360
Coord C2 exon
chr2:195824255-195824445
Length
155 bp
Sequences
Splice sites
3' ss Seq
GTCTTTCTCCTCCTTTTCAGGAA
3' ss Score
12.61
5' ss Seq
CTGGTATGT
5' ss Score
8.14
Exon sequences
Seq C1 exon
AATCAAACTAAAGAGTGGACAACTTTGTGCAAAGGAAGAGATATCCCCTGCTCAGATGATTGCTCTCTTATGGGTACCCTGGGAGAAGCTGTGACAATTCGAACTTGGAATATTGCTGGATTACCTTCTGACTCATTTTCCATTGATAATGGGATAATCATAAT
Seq A exon
GAATGCAAGAAGGTGGCCTCTGATGATAGATCCTCAAAGTCAGGCTAATAAATGGATCAAGAACATGGAAAAAGCCAATAGTCTTTATGTGATTAAACTTAGTGAACCTGACTATGTCAGGACTCTGGAAAATTGCATCCAGTTTGGTACTCCTG
Seq C2 exon
TGTTGCTAGAAAATGTTGGCGAAGAACTAGATCCTATTTTGGAACCTCTTCTACTAAAACAAACCTTTAAGCAGGGTGGGAGTACATGTATCCGGCTTGGGGACTCCACAATTGAATATGCACCTGACTTCCGCTTCTATATTACTACCAAGTTAAGAAATCCTCATTATCTTCCTGAAACATCAGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-'74-84,'74-80,76-84
Average complexity
C1
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:
PF127772=MT=PD(2.3=14.5),PF127812=AAA_9=PU(12.6=52.7)
A:
PF127812=AAA_9=FE(22.5=100)
C2:
PF127812=AAA_9=FE(27.3=100)
Main Skipping Isoform:
ENST00000312428fB14002
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCTGCTCAGATGATTGCTC
R:
GAAGCGGAAGTCAGGTGCATA
Band lengths:
257-412
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development