HsaEX6003896 @ hg38
Exon Skipping
Gene
ENSG00000137474 | MYO7A
Description
myosin VIIA [Source:HGNC Symbol;Acc:HGNC:7606]
Coordinates
chr11:77190697-77213979:+
Coord C1 exon
chr11:77190697-77190870
Coord A exon
chr11:77201448-77201638
Coord C2 exon
chr11:77213860-77213979
Length
191 bp
Sequences
Splice sites
3' ss Seq
CACTCACCTCTGCTCTACAGCAG
3' ss Score
5.4
5' ss Seq
GTGGTATGT
5' ss Score
7.64
Exon sequences
Seq C1 exon
GCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAG
Seq A exon
CAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTG
Seq C2 exon
GATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGACGTCACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137474_MULTIEX1-9/23=C1-22
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.357 C2=0.000
Domain overlap (PFAM):
C1:
PF0078412=MyTH4=PD(1.9=3.4),PF093795=FERM_N=PU(50.5=79.3)
A:
PF146041=SH3_9=PD(84.5=77.8)
C2:
NO
Main Skipping Isoform:
ENST00000409619fB4508
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAATCATGTTGCCCGTGACA
R:
GCACCAAGTTCCCAATGGTGA
Band lengths:
244-435
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains