HsaEX6039620 @ hg38
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25267779-25288009:-
Coord C1 exon
chr13:25287224-25288009
Coord A exon
chr13:25274071-25274187
Coord C2 exon
chr13:25267779-25267941
Length
117 bp
Sequences
Splice sites
3' ss Seq
AATATCTTTTTTTCTTTTAGGTC
3' ss Score
12.24
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
CAGTGGTATGGCGATGGACTTCAGAACATCCTCCACTCTTGCCCTCACCCCACAAGAACCCTTTACTCGGGATCCATTCTCACGCAGTCTTCCTCCCCGACCGCCCCGCGCGTCCGCTCGGCGGGATGACAAAGACCGCCTCGGGTGGGGTGGTGAGCAGTACCGGCCTCCTCCAGCAGGGGGCGCTGTGGGATCCGCCGCTGTCCGGGACGAACCAGCAAGCCGCTCTCGGTCCACACACGCTCTGTCTGCCTGCCCCGAGTCCCCCGGGAGGCCGCGGGGTTTGGGGAAGTGTTTCTAGGAGACGGCGCTCACCGGCTGCACCTGCGCCGTTGACGCCACCGGGGCCGGCAGACAGACCCGCGGCGCTGGCTGGTGGAGGGAGTTCCCGCTTGCTCTCTGTCGCTGTCACCGCCCTGTTTCTGTAGCCGTATGGTACGCCTGTGAGACCGGCTGCCGGCTGACGTCTCCTTGCGATGGAGCATATCCGGACGACCAAG
Seq A exon
GTCGAACAAGTAAAATTACTTGACCGATTCAGTACCAGCAACAAGTCATTAACAGGAACACTGTATCTTACGGCTACACATCTATTATTTATCGACTCTCATCAAAAAGAAACCTGG
Seq C2 exon
ATATTACACCACCATATTGCCTCAGTAGAGAAACTTGCTTTGACTACTTCTGGATGCCCCCTTGTGATACAGTGCAAGAACTTCAGAACTGTGCATTTCATTGTTCCCAGAGAAAGAGATTGCCATGATATTTACAACTCTTTGCTACAACTGTCAAAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505-'1-7,'1-3,8-7=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0289315=GRAM=PU(10.6=62.5)
A:
PF0289315=GRAM=FE(80.9=100)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGTTTGGGGAAGTGTTTCT
R:
ACTGAGGCAATATGGTGGTGT
Band lengths:
248-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains