Special

HsaINT0106328 @ hg19

Intron Retention

Gene
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:16825]
Coordinates
chrX:63555959-63557273:-
Coord C1 exon
chrX:63557148-63557273
Coord A exon
chrX:63556009-63557147
Coord C2 exon
chrX:63555959-63556008
Length
1139 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
3' ss Seq
TTCTTTTCTATAAAATGAAGATC
3' ss Score
2.94
Exon sequences
Seq C1 exon
GCAGTGAAGGTAGAAAAGGCCAGTGTCTTAGTCCATTGTTCTGATGGATGGGACCGCACAGCACAAGTCTGCTCAGTGGCTAGCATCCTCCTAGATCCATTTTATAGGACATTCAAAGGACTCATG
Seq A exon
GTAAGAGAGCACGCTACTATATTTTACTTTGTGTAAGAGACAGATTGCGACAAAATAAAAAATAACTGTCAAACAATATTTTTTTTGCCAGAGTTAGCTCTAAGTCTACAAAAATAGCTTTTCCAATTTAGCTTCTTTTCATTAAATTTAGGTGTGTACTATCTGTATACTTTCTTTTGTATGTTCAACATACTTCTTACCTATCAGAAGGTAAGTTATATGTAGCAGACTACTGTACAGAGTAGGAAAAGCTCAAAAAGTTTGCAGAGCTTAATGGATGACTGTCAAATAGACTGTCCAAGGGGCTCATCATCTTTAACATGTCAGCTGTTTGAATGTCAGACTTATGATTGTTTTCTAATGCTGAATCTAAAGCCTCTTAGTTGATCTTTCTAAGAAACAGAACTCACCATAGTGGTTTATTCTCATTTCTTTGGAAAGCTTTTTTTTGTTTTGTTTTGTTTTTTTGTTTTGAAGTAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATATTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTGTGCCATAGCCTCCCAAGTAGCTGGGATTACAGATGTGCACCACCATGCTTGGCTAATTTTTGTATTTTTAGTAGTGACTGGGTTTACCACATTGGCCAGTCTGGTCTCAAACTCCTGGCCTCATGTGATCTGCCCTCCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCATGCCTGGCTAGAATTTTTTTTTTTTTTTTAATGGTTAAAAATGGTTTTGTTACTGGTATAAAGCTAAGAGCTGCCTTTGGATTTCTGTTTTTCAAAGTGTGAATTTAATATCGTGCTTATCAGGATTGCATTTAGTTATGGCTCAGTGGCTTGTCACACATGTGAAAGCCAAAGGAAATTTGACTCTGGATATGTCTGAGAGCATCTGAAATTTGAAGGCACCCTGTATAGGCTTATGAATGAAATCTAAGTTACTTACTTATTTATCATTTAGGAAATTAACTATTTTATGATCAGTTCAACTATTTCAGCAAAGTGTTTTGACATTCTTGTGTGTATGGTTAATTCATTTTATGATTTTCCTAATGCAAACACTTTCTTTTCTATAAAATGAAG
Seq C2 exon
ATCTTGATAGAGAAGGAATGGATATCCATGGGCCACAAGTTTTCCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043-MTMR8:NM_017677:9
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=0.000
Domain overlap (PFAM):

C1:
PF066029=Myotub-related=FE(12.0=100)
A:
NA
C2:
PF066029=Myotub-related=FE(4.7=100)


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
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