HsaINT0106300 @ hg38
Intron Retention
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25257736-25258692:-
Coord C1 exon
chr13:25258560-25258692
Coord A exon
chr13:25257846-25258559
Coord C2 exon
chr13:25257736-25257845
Length
714 bp
Sequences
Splice sites
5' ss Seq
AAGGTATAT
5' ss Score
7.84
3' ss Seq
TATTTTTATACCTCTTTCAGTCA
3' ss Score
6.77
Exon sequences
Seq C1 exon
CTGAATGCAATGGCCAACAGAGCAGCTGGAAAAGGTTATGAAAATGAAGACAACTATTCCAATATTAGATTTCAGTTTGTTGGAATTGAAAATATTCATGTCATGAGGTCCAGCCTTCAGAAATTATTGGAAG
Seq A exon
GTATATTATTGCTTACTTTTTTAGACACCCTTGTCCAAAAGAAATCTAATGCTAGTCACATGTAATTTAGAATTTTCCAGTGGTCACATTTTAAAAAGTAAAAAGAAACAAGTGAAATTAATTTTAATAATATCCTTACTTAATATATTATAAACATTATTTTAACATGTAGTCAATATAAAAAAAATCAGTAATGAGATATTTTTCTTTTCATCAACTCTTAGAAATCAGGCATGTATTTTACACTTACTACACATCTGAGTTTGGACAAGCCATATTTCAAATGTTTAGTAGCCGTATTTGGTTAGTGGCTGCTGTATTAGACAGTACAATTCTAATGGTTTTGCAAAAAAAATGTTATTAGATAGATATTCTTGAGTAGTCAGTACAATAAATACTAATTTGTAGTAATGTTCATTTAAATATTCCAGTCATAGTATAGAATTTAAAAAATTAAAATATAAGATTATTTTTAGTTAGATGCTTGTGCTACAATGTTTTTTAAGAGATTGGAGCATTTTTGTAAGCACGGGAATAATAGAAAAATATATCCAAGAATCAGTTATTGAGCTTTTAATAGCATCTTTTCATTTATAGAGTCTTGCCTGTTTATTTTGTCTTCTTTCTTCATTCACTTATCTAGAGAGATCTTGAAAAAAGAAATGCAGAAACTCTAGCCATATTCTAATTGAAATATTTTTATACCTCTTTCAG
Seq C2 exon
TCAATGGCACTAAAGGGCTTTCTGTCAATGATTTCTACTCCGGTTTGGAGAGCTCGGGATGGCTTCGCCATATCAAAGCTGTTATGGATGCTGCAATCTTCTTGGCCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505:ENST00000381801:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.067 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(12.8=100)
A:
NA
C2:
PF066029=Myotub-related=FE(10.5=100)
Main Inclusion 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:
GAATGCAATGGCCAACAGAGC
R:
TTGGCCAAGAAGATTGCAGCA
Band lengths:
240-954
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development