Special

HsaINT0106325 @ hg38

Intron Retention

Gene
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Coordinates
chrX:64345045-64348794:-
Coord C1 exon
chrX:64348660-64348794
Coord A exon
chrX:64345178-64348659
Coord C2 exon
chrX:64345045-64345177
Length
3482 bp
Sequences
Splice sites
5' ss Seq
AAGGTATCT
5' ss Score
7.56
3' ss Seq
TATGTCCTCTGCTATTGCAGTTG
3' ss Score
7.86
Exon sequences
Seq C1 exon
GCTGCCATTTGCCGCTGTAGCCAGCCTCTCTCTGGATTTTACACTCGCTGTGTAGATGATGAGCTCTTGTTGGAGGCCATTAGCCAAACAAACCCAGGGAGCCAGTTTATGTATGTTGTAGACACAAGACCAAAG
Seq A exon
GTATCTATTTCTCAGTGATTTCTTTGATATTTCTGCCTCTTGCATTCTACCTCCTCATATATTGAGACATGCAGTGTTATTGGGAAAGTTAGGTTTGTGTATGTGTGTTTATTATGTCAGACATTGTGTAAAATCATTTCAGGAAGCCATTTGGGGCTCCTTTTATAAGGTTGCCACTGTCAAGTGAGGTTATGAGAGGGTATTTCAAGCAACCTGTCTTTCCCACCTCAGTGTGACGTCCTGCATAGAAGGCTCCTTAACATCCCTCATCTTTTTTACCAAGTCTGTTCCTTAACCAGAATTTTCAGTATTCCCATTCTGTGGTCTAGATTTACTGTTAGAGAAAGAGCTTCAACTTAGACATTGGAAACTTACTACAACCAACATGTTTTTTTTTTTTCTATAAATGTGTTAGGCCACAGTAATTTAATAATACTTTGGTTCTCCCAAAGCACCAGGGTTCACAAATTTTACTGCTATGCAATTAACAAAAAATCTTTAGCTCATATGGCAGTAATTCTTTTTTAGCATCTAGTACTGTTAGCTGATTAAATTTTTGCCGGTTTAGTACAGTGCAGTTTAAATCTTCGTCCCAGAGAATTAAAAAGACCAAGTTCATAAATTTGCCGTGGATTTTGGCAGTGGACATGGATAGACCTAGTCAAATCCTTTGATCTTTCCAATAATCTAATGCTGCATGATTTGTTGCAATGTGTTTTCTCAGGCTTTGTCTCTTTCAAATATGAACATTGCTGAACAGAGTGTCCTCATGTTAACCTAAGTATCAGCTTAAACTCCTCTCTGCATTAATTCCTTAACCTTCAAAGTTTTGTGTGGCTCTATATGGGCTGTAGAAGAACTCATTGTGTCCCACAAAAGAAGTAAAGGATAGATTCCATATTCTTAAATGTTGTCCTTTTTACAAACAGCCCCAGAAAGAAATAATTTTGCTTATAATTTGGTATGTAAAGTGTGACTGACTAAGAGGTTTCATTGCTGATTCTAGTCATTACTAAATTGGTGATTTTCATCTAAGCCTAAGCCAGATGGTTGTGACTTAAGAGTTGAGCAGTTGGATGTACATGAAACCAGATAGTTGCCTTAGACAGCTTTCTGCCCCATCTTTGTGATCCCTCAGTGGCTATTCTCCAGAGCTACCTAGGACTGACTGAGCTCAGGAGAGAAAATAATTTCCCTTTCTGTTCAGGCCCATCCTTCAGTTTCTCAGAAGCTTGCTGTCTTGTTTCAGCCATAACTGCATCTGAAATTCTGCAATTGAAAAGAGTTTAATCGAGTCTGTATCTTTAAAAATTAAATAATCTTAAAATAGTAAAGAGAAATACACCAAGCTTTTGAAGAAACAAAAGAGTTGGTGCCTTTTGTTCAAATCTAACACCAAAAAGCCCCCTTTTTTTTAACAGGTTCCATTTTCCTCTCTCCAATTTGAGCAAATTAAGACAGGCCTAGAAATATCTGGCATTCCCTCTCTTCTGGATGGCTAGATCCGTACTTTTAGTAGGAACTATATTATACTGACAAAATTTTGTTCTAGGAGTCAGTCAAACCTGAGGTCAAATCCTGCTTTCAGCCTTTATCCATATCATCTTGGGCAAATTGGTTCATCTCTCTGAGCCTGTTTTCTTATGGGGATAATATAGCACCCATTTTGAGAGGCTGTAATGAGGATTAAGTGAGATAATGTACATAAAGGATTTAGCACAGTGTCAGGCATATAATAGGAGCTCAATAAATATTACATTACAATAAATATTACATCTGACATTCTGCAATTGGAAAGAGTTTAATCGCGTCTGTATCTTTAAAGATTAAATAATCTTAAAATAGTAAAGAGAACTACACCAAGCTTTTGAAGAAACAAAAGGGTTGGTGCATTTTGTTCAAATCCAACACCAAAAAGCCCCTTTTAACAGGTTCCATTTTTGTCTCTCCATTTTCCTCTCAGTTTGCCACCTGAACATTAAATAGGTATCTGTTACTCAGATCTGCCAGACATATTTTTAAAGAGTGAATACTGGTATGAGGTAGCTAGTTATCTGCATTAGGTGGCCTACCCAGGCCTGGGTAGTGACTACTGTAATTATTATTATTATTATTATTTTTGCTGAAGCATCACTCATAACAAACATCCTTGCTACTAGGTGACTATTGCTTATGCTTCCACGGGTGTTCCTTTGACATTTGTCATTAATTTAATGAAAGCTCAGTAACACTATCAATGTGATAAAAGATCAAAATTACCATCACATTTCCCCTTTTAACAGATGTCTTGCATTGTAAACAGAATATGTTTAGCACACTGACTTTTTTCCCTCTGCATGTTCTAACTTGAATAGTTTGTGTCTTGAGGTTTTTGTATTCTTTTAATACAAAAATTATACCCTGTCCACATACATGCTCCTCCTGCCTTCTGAAATGCACAATATTGGGAGATGAGAAAATAGGCCCAGAAAACAGAAAATCACTTAATTAGTAAGATGGTCATTATCGTAGACAGTATCTTGGCTGCCTTCTGGTTATTATATTCATATTTCCACAAGTCTCATTTACTCCCTACCCCACCCAGCATTCTTCATATGACCTAGAGATTTTCTGATTACCACAAACTGAACATAGTGTTAAAACAGTTGGTGATGTCTCCATTTCAATTTTGTCAGTGAGTAAAAGTCATTTATCTCATGCAGTCACATTTTAGACATTTTTCTAGAATAGCTATTTAATTGGGCTGTATGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAAGAGGATTACATGAGTCCAAGAGTTCAAGGCCAGTGTGGGGAACAGCGAGACTGTCTTTACAAAAAACATTTTTTGTAAAAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAGTCTTAGCTGTTCAGGAGGCTGAGGCAGAAGGATTGCCTGAGCCCAGGAGTTCAAGGCTGCATTGAACCTTGTGATTGTGCTGCTGCACTCCAGCCTTAATGACAGAGTGAGACACTGTCTCTTAAATAAATAAATAAAATTAATTCATCCTGAAGTTCTTAGGCTTCTTTCTAGAGCTTCTCAGTTGTAAATATTTTTGAACTTTTGCATGTTTCTCAGTATAAAACCCTTTCAGCTGAGAAAACATTTGTGGTAGGCAGCTCAAAATTATTATTTCAGTTTTTTAGATCAGATATCCTCATAGCTGCCATAACTTTTCTCTCTTAAGAAAGGTTTTCATAATGAAACAAAACACTGTATCTCCCTATTTTTCCCCTATATGAGTCTGTTACTAAAAGTACCTGATGTAAAAACTAGTGAAATTCTCTCCATTCCAGAATGTATCTCATCTGATTTAACTTCTTTTTAATTGGGTAGGATTTTAAACGGTTCAGAATGAGGCATTGAGATTGATGAACTCCATTCTTTCATCATCTGGCCTATCTGCTCTATTATGTCCTCTGCTATTGCAG
Seq C2 exon
TTGAATGCCATGGCCAACCGAGCAGCTGGGAAGGGGTATGAAAATGAAGACAACTATGCCAACATTCGCTTCAGATTCATGGGCATTGAGAACATCCATGTAATGCGGAGCAGTCTGCAGAAACTCTTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043:ENST00000374852:6
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=0.022
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
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
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