HsaEX0040628 @ hg38
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25267779-25274187:-
Coord C1 exon
chr13:25274071-25274187
Coord A exon
chr13:25272031-25272105
Coord C2 exon
chr13:25267779-25267941
Length
75 bp
Sequences
Splice sites
3' ss Seq
ATTTTTATGTTTTCGTATAGACG
3' ss Score
6.36
5' ss Seq
CATGTATGT
5' ss Score
5.71
Exon sequences
Seq C1 exon
GTCGAACAAGTAAAATTACTTGACCGATTCAGTACCAGCAACAAGTCATTAACAGGAACACTGTATCTTACGGCTACACATCTATTATTTATCGACTCTCATCAAAAAGAAACCTGG
Seq A exon
ACGACCGGCGCCATTTATTGACTGTTTCATTCCATTCGTCTTTAGTACCAGCTCTGTCATAAAAACATCTTCCAT
Seq C2 exon
ATATTACACCACCATATTGCCTCAGTAGAGAAACTTGCTTTGACTACTTCTGGATGCCCCCTTGTGATACAGTGCAAGAACTTCAGAACTGTGCATTTCATTGTTCCCAGAGAAAGAGATTGCCATGATATTTACAACTCTTTGCTACAACTGTCAAAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0289315=GRAM=FE(80.9=100)
A:
PF0289315=GRAM=PD(2.1=14.3)
C2:
NO
Main Inclusion Isoform:
ENST00000381801fB4447
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCGATTCAGTACCAGCAACA
R:
TGTATCACAAGGGGGCATCCA
Band lengths:
167-242
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development