Special

HsaEX6021056 @ hg38

Exon Skipping

Gene
Description
myosin heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:7567]
Coordinates
chr17:10492307-10494673:-
Coord C1 exon
chr17:10494569-10494673
Coord A exon
chr17:10494354-10494449
Coord C2 exon
chr17:10492307-10492568
Length
96 bp
Sequences
Splice sites
3' ss Seq
TCTTGAAAACATTATTTCAGACT
3' ss Score
3.58
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
Exon sequences
Seq C1 exon
GTTCGTGAACTTGAAGGTGAAGTTGAAAGTGAACAGAAGCGCAATGTTGAAGCTGTCAAGGGTCTACGCAAACATGAGAGAAAAGTGAAGGAACTCACTTACCAA
Seq A exon
ACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCG
Seq C2 exon
GAGGAACAATCCAACGTCAACCTCTCCAAATTCCGCAGGATCCAGCACGAGCTGGAGGAGGCCGAGGAACGGGCTGACATTGCTGAGTCCCAGGTCAACAAGCTGAGGGTGAAGAGCAGGGAGGTTCACACAAAAATCATAAGTGAAGAGTAATTTATCTAACTGCTGAAAGGTGACCAAAGAAATGCACAAAATGTGAAAATCTTTGTCACTCCATTTTGTACTTATGACTTTTGGAGATAAAAAATTTATCTGCCAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061-'43-53,'43-52,44-53=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.800 A=0.250 C2=0.240
Domain overlap (PFAM):

C1:
PF0157614=Myosin_tail_1=FE(4.0=100)
A:
PF0157614=Myosin_tail_1=FE(3.6=100)
C2:
PF0157614=Myosin_tail_1=PD(4.7=78.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGCTGTCAAGGGTCTACGC
R:
CTGCTCTTCACCCTCAGCTTG
Band lengths:
176-272
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains