Special

HsaINT0106325 @ hg19

Intron Retention

Gene
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:16825]
Coordinates
chrX:63564925-63568674:-
Coord C1 exon
chrX:63568540-63568674
Coord A exon
chrX:63565058-63568539
Coord C2 exon
chrX:63564925-63565057
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-MTMR8:NM_017677:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.019
Domain overlap (PFAM):

C1:
PF066029=Myotub-related=FE(12.8=100)
A:
NA
C2:
PF066029=Myotub-related=PU(12.8=92.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
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