Special

HsaINT0106299 @ hg38

Intron Retention

Gene
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25258560-25261802:-
Coord C1 exon
chr13:25261668-25261802
Coord A exon
chr13:25258693-25261667
Coord C2 exon
chr13:25258560-25258692
Length
2975 bp
Sequences
Splice sites
5' ss Seq
AAAGTATGT
5' ss Score
6.93
3' ss Seq
TCTAAAACTTTTAATTTTAGCTG
3' ss Score
6.12
Exon sequences
Seq C1 exon
GCTGCCATTTGTCGATGTAGTCAGCCACTCTCTGGATTCAGTGCCAGGTGCCTGGAGGATGAACATTTGCTTCAAGCCATTAGTAAAGCCAATCCAGTCAATCGCTATATGTACGTCATGGATACCAGGCCAAAA
Seq A exon
GTATGTATTTTAAATACAGTACAGTCTGCTAGTTTAATTATTTTTATTACTTTACTTAATGAGAGTTAATAAACTTGCCCATATTTAAAATATCTGAATCCTAGTTTTAAATTAACTAAGGCTAATGATACTAAGGAAATCAATCCTTTATTTAAAGGATACCAATTTAGAAAACCAATTTCTGAGTAACTCATGGTGATTTCTTACATCTTCTGATATATATAAATTCAGGAAAGCTGAATTGTATATTGAGAACTCTTGCTAGTATATAAGTCTTATGTTATTGTGAAGAAATAATAAAATGTGTGTTATGAAAAATAAATTGTTACTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGAGTTGCACTCTGTCACCCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAGGCACGTACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCAGTTGGCCTCCCAAAGTGTTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTAAATTCTTATTATTCTTTTTTGAAGAATTTTCAATTGACAAAACATTTTTATGCTAAAATAATGGATTTTAGCTTGAAATTTTCAAGAAAATAAGGAAAACAGTTAACTTAGGAAACATTGAACTAGAGAATTTTAAATAGTGAACAGGAATTTGGGTTATCTTAGGCATCTTGTGTGCTATGGGGCCAAATTTTTATCATTGGGACAAATTTCAGAGTCCCTTCTTCTTTTTATTAACATAGTTAAACAACCAGTTCATATAGGATCCTGAAACTAAAATAATTAAAATCCTCAGTGGTAATAGCTAACGTTACTTTTAATTTTTGTTATAGCGTCGCATGCAGAGCTGGTGGGCTACACAAAAGGACATTGGCAGAATTATAGTGAGGATTTCTTCAAAAATCCAGAATGATGAGAAAATAAGAGAAAGCAATGAGAAAAAGCGAGTGAGCAATATAGAACGCAAGTGGTTTTTAGGCAGCTTTGTGAAAGGAATGGTCACTATTTTAGAAGTGATTCTCATCATTATGCAATTTCACAAAAGATAATTTAGAAACCAGAAGAAGAGATTAATTTGAGTAAATTGTACTTTGGGAGGCCACGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGAGAAACTCTGTCTGTACTAAAAATACATAATTAGCCGGGCATGGTGGTGAATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCACGCCATGGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAGAATTATCTGGCTGGACATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTAAGGTGGGTAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGCGATGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGACTGGGTGACAAAAAAAAAATTAATAATTATTTAAAAATAGAAATTGATAACTTGATAATCTTTTATTAAAAATAAAAGACTTTATTAGGAGTTGAGAGTGTTGGTGATATCTCATAAGAAAAATTCTGGAACACTTTTTTGATAATATTAGATATAAAAGGCGATTGTAATATGAGACTTTTTGAAGATGAGGTCTGATACAGTGATTTGTTTTTCAGGACCTCATAGTTCTTATTTGTATAATTATCTTCTTCACAGAAAATATATCATTCTTTGATTGTTTTACTAGTTAAATGTAACTCAAGTAGTAATAATGTGGAAGCATTTTTTAACATCTAACTGTAGATTTTACTTTAGGTACCGAATAACTAGTGAGTCAGTAGGATACAATTTAACTGTACTTGTTACCAAACTGAGGTCCAATCCACAAAATGAAGAGCTCCTTTTCTTCTAATTTAGGCTTCGTTTTATCCACGTTCATAAGAATTTTTAATAAATTGTGTTAACATACTATATGAAATCCTAGCCTGGAAGAATTAAGCATGACAAATCCTAAGGGACCACTGACAACATTTTGATCTAATAGCTAAAGACCATGGGCATATGAGCAATCTGTTTTTTCCTGGAGACCAGTTTATTTTTGGCCCAATTCTCAGAGATGTATCAGGATAGCCGATTATATGCCATATTATATGATGTATGGGCCTCCAATAATCTCTCATATAATCTCCCTCAAGTAATCTGAAGCATATTTCAGATCTGATTTTCAGGTCCCTATGGCTCTCAGAATGATCAATGCCCTAGGCTTGTTCTGAAGTAAACTCATAGGTTCATTCTGTAAAAGGAAAGTCCCCCAGCCAGCTCTGCTCAACTGAATCATTTAGAAATTAGATAGGAGACATTTCTTTCTTTTTAATTTTAAAATATTACAAACATATGGAAACTGCCTAAAATATAAATGAATTGGTTTCATGAACTTATGGGAACTTTGACCTTTCCATTATATAGCAATCGTATTACTTTATTATCTCCTTCATTACTATTTAATAATGTGGCATTTTTACTTACTAAAAGATGAATGGTAGCTTATTCAGTTTTGATGAGTTCCTTTAAACTGCCTCCTAGCTAAAATACTGCTTATTTAATATTTTCATGACATTTTGGTAAATTAAAAAAGTAATTTGTCTCTAAATTTCTAAAACTTTTAATTTTAG
Seq C2 exon
CTGAATGCAATGGCCAACAGAGCAGCTGGAAAAGGTTATGAAAATGAAGACAACTATTCCAATATTAGATTTCAGTTTGTTGGAATTGAAAATATTCATGTCATGAGGTCCAGCCTTCAGAAATTATTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505:ENST00000381801:6
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=0.067
Domain overlap (PFAM):

C1:
PF066029=Myotub-related=FE(12.8=100)
A:
NA
C2:
PF066029=Myotub-related=FE(12.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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