HsaEX0020207 @ hg38
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195853343-195857723:-
Coord C1 exon
chr2:195857377-195857723
Coord A exon
chr2:195855811-195855991
Coord C2 exon
chr2:195853343-195853528
Length
181 bp
Sequences
Splice sites
3' ss Seq
TTCAATTTTACTTTTTGCAGAGT
3' ss Score
7.63
5' ss Seq
CAGGTGTGT
5' ss Score
6.99
Exon sequences
Seq C1 exon
GATATTACAGTGGTAAAATCCATGAAGAGTCCTCCTGCTGGTGTCAAGCTTGTTATGGAAGCTATATGCATCTTGAAAGGAATCAAAGCTGACAAAATCCCTGACCCAACAGGTTCAGGGAAAAAAATTGAGGATTTCTGGGGCCCAGCTAAGAGACTTCTTGGTGACATGAGGTTTCTGCAGTCACTTCATGAATATGACAAGGACAATATTCCTCCAGCTTATATGAATATCATAAGAAAAAATTATATTCCAAATCCAGATTTTGTACCAGAAAAAATCAGAAATGCTTCTACAGCGGCCGAAGGTCTGTGCAAATGGGTCATAGCAATGGATTCATATGATAA
Seq A exon
AGTGGCAAAAATAGTAGCTCCCAAAAAGATAAAACTGGCTGCAGCTGAAGGGGAGCTTAAAATTGCCATGGATGGTCTTAGAAAGAAGCAGGCAGCCCTTAAGGAAGTTCAGGACAAGCTGGCCAGGCTTCAAGACACACTTGAATTAAATAAACAAAAGAAGGCTGACCTGGAAAACCAG
Seq C2 exon
GTTGACCTTTGCAGCAAAAAACTAGAACGAGCTGAACAGTTGATTGGAGGCCTTGGAGGTGAGAAAACTCGATGGAGCCACACAGCTCTGGAGCTAGGTCAGCTGTACATCAACTTGACTGGGGATATCCTCATTTCCTCCGGAGTGGTTGCTTACCTCGGAGCCTTCACATCCACCTATAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997_CASSETTE4
Average complexity
S
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(32.8=100)
A:
PF127772=MT=FE(17.1=100)
C2:
PF127772=MT=FE(17.4=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:
TGGTGACATGAGGTTTCTGCA
R:
CCTCCAAGGCCTCCAATCAAC
Band lengths:
245-426
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