HsaEX0020204 @ hg38
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195834206-195853528:-
Coord C1 exon
chr2:195853343-195853528
Coord A exon
chr2:195845002-195845165
Coord C2 exon
chr2:195834206-195834360
Length
164 bp
Sequences
Splice sites
3' ss Seq
TTTCTGTGGATGTTCTAAAGAAT
3' ss Score
3.49
5' ss Seq
AATGTAAGA
5' ss Score
5.55
Exon sequences
Seq C1 exon
GTTGACCTTTGCAGCAAAAAACTAGAACGAGCTGAACAGTTGATTGGAGGCCTTGGAGGTGAGAAAACTCGATGGAGCCACACAGCTCTGGAGCTAGGTCAGCTGTACATCAACTTGACTGGGGATATCCTCATTTCCTCCGGAGTGGTTGCTTACCTCGGAGCCTTCACATCCACCTATAGACAG
Seq A exon
AATCAAACTAAAGAGTGGACAACTTTGTGCAAAGGAAGAGATATCCCCTGCTCAGATGATTGCTCTCTTATGGGTACCCTGGGAGAAGCTGTGACAATTCGAACTTGGAATATTGCTGGATTACCTTCTGACTCATTTTCCATTGATAATGGGATAATCATAAT
Seq C2 exon
GAATGCAAGAAGGTGGCCTCTGATGATAGATCCTCAAAGTCAGGCTAATAAATGGATCAAGAACATGGAAAAAGCCAATAGTCTTTATGTGATTAAACTTAGTGAACCTGACTATGTCAGGACTCTGGAAAATTGCATCCAGTTTGGTACTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997_MULTIEX5-2/5=C1-4
Average complexity
C2
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=FE(17.4=100)
A:
PF127772=MT=PD(2.3=14.5),PF127812=AAA_9=PU(12.6=52.7)
C2:
PF127812=AAA_9=FE(22.5=100)
Main Skipping Isoform:
ENST00000312428fB14001
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:
AAACTCGATGGAGCCACACAG
R:
GCAATTTTCCAGAGTCCTGACA
Band lengths:
258-422
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