HsaINT0106292 @ hg38
Intron Retention
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25251853-25253964:-
Coord C1 exon
chr13:25253764-25253964
Coord A exon
chr13:25251985-25253763
Coord C2 exon
chr13:25251853-25251984
Length
1779 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGA
5' ss Score
7.61
3' ss Seq
GTTTTTCTCATTATATTAAGGTT
3' ss Score
7.12
Exon sequences
Seq C1 exon
GTGTGGCCAGTTGGATGGTGACCCAAAGGAAGTCTCACCAGTGTTTACTCAGTTCTTGGAATGTGTGTGGCATTTGACCGAACAGTTTCCACAAGCCTTTGAATTCAGTGAAGCATTTCTTCTTCAGATCCATGAGCATATTCATTCATGCCAGTTTGGAAACTTCCTTGGAAATTGTCAGAAGGAAAGAGAAGAGCTCAA
Seq A exon
GTAAGATGATTCAATTAAAAGAGTCTCCTTTTCCCCCTACTTAGCCGAGGTCTAACAAAAATCATGTTTGAAACTTAATAAAATATCTTGACAATTTGAAAGTTTATTGTAAAGATTTTATTTTTTGTATTTCTAAAGCTGAGTACCCTTCTAATATTCCCCCACCTTTCAGCTAATAGTAAAAGCACATTATAAAATGTGTTTTGAAGTGTAGCATACATACAGAAAAGTACATAGAGCGTTAAGTGTGAAGCTCAGTAAATCTTACCAAACTCACACACCTATGTAACCAGCACCCAGAATATGAAATGTTGTCAACACCCTGGAAAGTCTCCTCATGCTTCTTTTCGGTCTGCATTTATATATTTTAGAACAGAGAAATCCTTATGCTGTTTAATTTCCCAGAATGTATCAGTCGCTAGTTTTAAAGTGTAAAATATTTTAAACTGTTGGTTTGTTTTAAGATAGGATGGAGCCTTATAGCTCTCCCCACATTTCTAAACAGACAGTTCTTTGGGGAAAATAAATCTAGCTATGTTGGCTGCAGCGTGTCCGTCCTTGAGTAGGGTCTCAGAAAAGCCCTGAGACACTACTTGACCCTAGTTCATGTTATTTCCTGACCAGTCTTCGGGGATAGGGGTTTTTGCCTAAATTTTGCTGTAAGGAAGATCTCTGGAGTAGGTCTTAGAGGTCCTATGTATATTGTTTTAGGTTGGGCTTCTGAGTTTGGATTTCTTTATTGCCTCTTACAGTAGGCAATAAAGAGCACTTAACAGACTTTTGAACATCCAAGGGACATATTAAGGAAGCTAAATCTGGTAGTATTTGAAGATAGCCACATGCTCACACTCCCAACAGAGTAAACAGCAGAACTGAGAGCATGTGGAAAATTCTAAAAATGCGTAAAGGGAATAAAAAGTGAATAGAGAATGGTGGAGATGAACAATCAAAGAACATTGAGGCTTTAGCTCTATGTTACAGTGATTCAAAATAGTTTATTATAATTTGGAGCACAGAGGTAACTCTTTTCCTGGAGTACAGAGCTATTTTAGGAAAAACTATTCTTAATTAGTGCCAAACATTCTCAAAAATGGAAAGATGGAAGTAAAAGTAGATATTTCCTAGTAGTTTTTCTCCAAGACACACCTATGGGTCATCTTAGGAGTTATGGAAAAATCAGGAGATTTTCCACTTTCCCCCTGGATACCTACATTATGTTTACTTGGTAAATGTCCAGTCTAAAACCATTCTTACCTTTGCCCAGCTACTCTTAGATTTGCAAAATAATTGGCTTTTAAAATTCTTGCATAACATCCTGATTTTGCCTGTTCCCTTTTTGTACCCACTCACACTTACGTGTGCTCCTGCCCTATGATACTCGCCACTACGGCCCAGACGTGGGGTTAAGAGAAGGCCAGACAGAAAGATGCATTAGTGTCTTGTTCTATGTGTATGTTTGTGGTGATTTGAAGTAGGTGGAACAGAGACCAAGTTTTTGAAATTGTGTGAGTTGAGAGGAATCCCTTAAAATATATGGTTGTGAGAGAAAATGTTATACCTGTGTTGTGTTCAAGAAACATGACTTTATTACCTAATTATGAATGAAAAAGGAGAATAGAGATAATACAGAATTCTGAGACAAGGTTAGACTGTGAATACAAGAAAAAACTAAAATTTAAATCTGCTTCGGAAGCCATCGCCTGATTTATAAAAATGAATATTACCATTACTACTTTGCATCTATAGGAAAGATCTCTGTGTTTTTCTCATTATATTAAG
Seq C2 exon
GTTGAAGGAGAAGACTTATTCCCTGTGGCCATTTCTTTTGGAAGACCAAAAGAAGTACTTAAATCCTCTCTACAGTTCCGAATCTCACAGATTTACAGTTTTGGAGCCAAATACAGTATCTTTCAATTTTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505:ENST00000381801:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=PD(19.2=97.1)
A:
NA
C2:
NO
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:
GTGTGGCCAGTTGGATGGTG
R:
TGAAAGATACTGTATTTGGCTCCA
Band lengths:
326-2105
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