HsaINT0106324 @ hg38
Intron Retention
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Coordinates
chrX:64348660-64350070:-
Coord C1 exon
chrX:64349942-64350070
Coord A exon
chrX:64348795-64349941
Coord C2 exon
chrX:64348660-64348794
Length
1147 bp
Sequences
Splice sites
5' ss Seq
AATGTAAGT
5' ss Score
8.62
3' ss Seq
GACACACCTTTTCCTTACAGGCT
3' ss Score
9.15
Exon sequences
Seq C1 exon
ATATGCAGCACCTACCCTCCTGAAATAGTGGTTCCTAAATCTGTTACCTTGGGAACGGTGGTTGGAAGTTCAAAGTTCAGAAGTAAAGAACGTGTCCCTGTGCTCTCCTACCTCTACAAAGAGAACAAT
Seq A exon
GTAAGTTAAGCAGATTTCTCTAATGATAATTAAACATGGCTCTGGAAGACCTGTTTTAAGTTTCATGCTGCCACTTAGTAGCTGTGTGACCTCAGGCAAGTTACTTAACTTCTCTGGACTTTCATACTTCTGAAGGTTTTTGAGAGGATCTCAGTAGGAATAATATGTACAATGTACTTTGTAAATTGTAAAATGTTATGCAGATGTTAAGTGTCATTTTAGTATGTTTATTTCTTTTTCTTTTTTTCCTTTTCTGTGGGATCCAGCTTTGTGGAAAGTTGTGAAATGACAGAAAATTAGTTGTATACAGGATTTTTTGGGGGCTGTGGCCTCCCAGTAGAATACAGATATCCTTGATACTTTCTTAGTGCTTTTCATATAATTTCAGGTAGTAGTAAGAAAGCACTTGACTCCTCTGTGTTTCAATCCCCTTACTTATGTAGGAAGTGATAATATTTATCACCTCTTGTAATCACTCTGAGATCTGGGGTTAGACAAATAGGCAAGTTGTCAGGTGGGCAACCGTTCAAGTGCTAAGGAGTATAGTAATGCAATTGGGTGTCATATTATTGAAGTGAGTTGACCCCTTAAAAGCCACATCAAAGTGTAACGAATTTCATGAACTAATCATTACCAGACATTCATGTTAAATAGTTACGTTGTTTTTGTGTTAAAGTGGCTTGAAACAAACCACCCTTCTGATTTGGCATTAACTTCTGAAACTAGTGAACCCTGTTTTCTTAAGACGCTGTAGATCTTTGCTCTATCTTGAATTCTGCTGCCTCCGCAAGCTTATGGTTTATGTGGGCAATATTACTGGGACTGTAAAAAGTGAGGCGGTTTCAGAAAAATAGCCCATTATATATCGAGAATAGAATTTCACTAAGGAAATACTCATGATGTGATTTTTTTTGTAGTCTGATTTACCAAGACTGGGTTGGAAATTAGAGCCACATGCCCAGGGTAGGCAGGAGGTTAAGCCCAATGTCAGTGGAGAATGACTTTAGAGTCACATTTCTCTTTGCTTTGGACACTATCTTAAGTTGGCTCATCCTCTCCCTCTACTCATGGAACCTGGCAAGGGTCAAGAAAGATTTTTGACCATTTGTGAATATAATCACTCAACTGACACACCTTTTCCTTACAG
Seq C2 exon
GCTGCCATTTGCCGCTGTAGCCAGCCTCTCTCTGGATTTTACACTCGCTGTGTAGATGATGAGCTCTTGTTGGAGGCCATTAGCCAAACAAACCCAGGGAGCCAGTTTATGTATGTTGTAGACACAAGACCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043:ENST00000374852:5
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=FE(12.2=100)
A:
NA
C2:
PF066029=Myotub-related=FE(12.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATATGCAGCACCTACCCTCCT
R:
TTGGTCTTGTGTCTACAACATACA
Band lengths:
262-1409
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