HsaEX6017590 @ hg38
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195808682-195816963:-
Coord C1 exon
chr2:195816628-195816963
Coord A exon
chr2:195809745-195809871
Coord C2 exon
chr2:195808682-195808876
Length
127 bp
Sequences
Splice sites
3' ss Seq
TATTTTCTGTTGACCCTTAGGCT
3' ss Score
8.48
5' ss Seq
GCGGTCAGT
5' ss Score
6.52
Exon sequences
Seq C1 exon
GCAGTTAAAAGAAATAGAAGACAAGATTTTAGAAGTTCTTTCATCTTCGGAAGGCAATATATTAGAAGATGAAACTGCTATTAAGATATTATCTTCCTCCAAGGCCTTGGCTAATGAGATTTCTCAGAAGCAGGAAGTAGCCGAAGAGACAGAGAAAAAGATTGACACCACCCGCATGGGCTATCGTCCTATTGCCATCCATTCTTCCATCCTATTTTTTTCTCTTGCTGATTTAGCCAACATTGAGCCCATGTACCAGTATTCACTGACCTGGTTTATTAACCTTTTCATCCTGTCTATTGAAAATTCAGAGAAATCAGAAATTTTGGCAAAAAG
Seq A exon
GCTTCAGATTCTCAAGGATCACTTTACTTATTCACTGTATGTTAATGTCTGCCGGTCACTCTTTGAAAAGGATAAGCTGCTCTTTTCCTTTTGTCTAACCATAAATCTACTGCTGCATGAGCGGGCG
Seq C2 exon
ATTAATAAAGCTGAGTGGAGATTTCTGCTAACTGGTGGCATTGGACTGGATAATCCTTATGCCAACCTTTGTACATGGCTTCCTCAGAAATCCTGGGATGAAATATGTCGATTAGATGATTTGCCTGCCTTCAAAACCATTCGTAGAGAGTTTATGCGCTTAAAGGATGGATGGAAGAAAGTATATGATAGTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-'84-92,'84-91,87-92
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127812=AAA_9=PD(17.7=36.3)
A:
NO
C2:
PF0302810=Dynein_heavy=PU(56.3=75.4)
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:
TCAGAAGCAGGAAGTAGCCGA
R:
CCAATGCCACCAGTTAGCAGA
Band lengths:
257-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains