HsaEX6017587 @ hg38
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195817696-195834360:-
Coord C1 exon
chr2:195834206-195834360
Coord A exon
chr2:195824255-195824445
Coord C2 exon
chr2:195817696-195817829
Length
191 bp
Sequences
Splice sites
3' ss Seq
CTTTTCTGATTTTACTCCAGTGT
3' ss Score
7.56
5' ss Seq
AAGGCCAGT
5' ss Score
0.92
Exon sequences
Seq C1 exon
GAATGCAAGAAGGTGGCCTCTGATGATAGATCCTCAAAGTCAGGCTAATAAATGGATCAAGAACATGGAAAAAGCCAATAGTCTTTATGTGATTAAACTTAGTGAACCTGACTATGTCAGGACTCTGGAAAATTGCATCCAGTTTGGTACTCCTG
Seq A exon
TGTTGCTAGAAAATGTTGGCGAAGAACTAGATCCTATTTTGGAACCTCTTCTACTAAAACAAACCTTTAAGCAGGGTGGGAGTACATGTATCCGGCTTGGGGACTCCACAATTGAATATGCACCTGACTTCCGCTTCTATATTACTACCAAGTTAAGAAATCCTCATTATCTTCCTGAAACATCAGTAAAG
Seq C2 exon
GTAACATTATTAAACTTCATGATAACCCCTGAGGGAATGCAAGATCAGCTTCTGGGAATTGTGGTGGCACAAGAAAGGCCAGACCTTGAAGAAGAAAAGCAAGCCTTGATATTACAAGGAGCTGAAAATAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-'76-85,'76-84,81-85
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=0.067
Domain overlap (PFAM):
C1:
PF127812=AAA_9=FE(22.5=100)
A:
PF127812=AAA_9=FE(27.3=100)
C2:
PF127812=AAA_9=FE(19.0=100)
Main Skipping Isoform:
NA
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:
AATGCAAGAAGGTGGCCTCTG
R:
GCTTTTCTTCTTCAAGGTCTGGC
Band lengths:
254-445
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains