HsaINT0106304 @ hg19
Intron Retention
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17163266-17166835:-
Coord C1 exon
chr8:17166786-17166835
Coord A exon
chr8:17163467-17166785
Coord C2 exon
chr8:17163266-17163466
Length
3319 bp
Sequences
Splice sites
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
3' ss Seq
TCTAATGCTTTGTTTTATAGATA
3' ss Score
8.49
Exon sequences
Seq C1 exon
GTATTAATTGAAAAGGACTGGATTTCCTTTGGTCATAAGTTTAATCACCG
Seq A exon
GTAAGTAATATTTAAGACTGTTTTGAATGTTTAGAATAAAAGCACTGTTTCTGAAAATTTCAATTGAATATTTAGGGGAAAATCGTCTTGTTTTTTGAGTTTGTGTCTCTTATTCAGAAAGCTTAAATTTTGTTGTATATGTCATATCATAGATAAATGAAGTTATAACTGATTCCTTTTGGTAACAGTTGGGCAGAACTAACTAATGTTAACTTGTTCTAGAAGAGACAGAGAATGCTTGTTCATTGTCTTAGTGAGGATCAGCCTTCCCTTCCTCCTGCCATTTGCATGTGACTTACTAAATTATTCCATTTTAGAAGTCCAGAGATTCACTTTAGTCTGCAAGTTGTGAACTGCCCGTGGAACAGTTTCTCTTTGATCTTCTATAGTCCTAAGGCATTTGTATCGGAGTGCAGTTTGTCCCAGATGTCTCTGGAGTGGTGATGAAGGCTTCAGAACCAGACATATCCAACTCCAGATCCAGGCCATGATATTCACTGTCTGGCCTTGGACGTCTGGGCTGTCTGACCTTTGGTCTCTCATCTGTGGAATGGGGATGCCAAAGCTGTTGTTTTGGGAGTCACCAGCCTCCTTTTGTCAGTGTTGATGCCTGTATTGTGTTCTGGTGTTCTCTACTCTTTGAATCTTAAATGGTATAGCTGTACTTAGTTTAGTCTTTGGTGATAAAATTTAAATTTAGGCAGCAAGTTTCATTAGTTTGATATATATTTTCAGAAGTTTTACTGTGTTTTCTTAAAATTCTAAATGCATGCAACTGCTCAAGTATATTTTTGTAGTTTTTTGCTTTTAGCATTAATTGATCACTAATTCTGTGATTTTCAGGAATTCTATTTTTCTAATTTTTTCCAGGAAAGCATAGGAATTCCATTTACCAATGAGAAAATTAAAGCCCCCAATTAGATAAACTTCTTAACATGGCATTATTTTCAGTTTGGGGTTCTATTAATATTACACGCTAGGCAGTTAGGATCTCCAAGATAGGAGACAGATGACAGAAAGAATATGGAAATGACTGAAGATCAGCTAGATAATTGTTTGATAAGGAAAAAATACGTTAATATTAGGCAACCTTTTTTTTTTGATTTGCAGTAAAGTTTATTTTGAAATAATTCTGAAGCCATAAAAGACTAAAATTCCCTTTATGCAAATATAAATCAGTCTCCCATAATGCAATTATTTTTTTCTTCCTCATTTTATTTTTATTTTTTAATTTTATTATTATTATACTTTGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATATATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCGCCACCCCACAACAGTCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCTTGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAACATGTGGTGTTTGGTTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGAAATGAACTCATCATTTTTTATGGCTGCATAATATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGGCTATTGTTGTTGGACATATAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCTATAAACATTCATGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTTCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTGTATCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTTTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTTTAGATTCTGGATTTTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTCTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATCTGTCAATTTTGTCTTTTGCTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTTATAGTTTTAGGTCTAACGTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGCAAAGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCTAGGTAACACTTTTTAAAGCTACCAAAGGTGAGAAACTGTAACATCTGAGAAGTTTCTAGACAATTTCCAATGTTCCCACTCTTGGGAAAACTCTAAAACTGATCATTGCTCATTCCTCTTCCTCAAGGTGATGATCTCTTACTAACACGGGGTTCTATATTGTTATTTTGTCTTTGATGACACCAAAACATCCTTTTGGATTCTCTGTAAAACTCACACAGTAGTGTAAAGGGCTAAGGAGTCTTCATTTTAAAATCAATACAAATTTGAGGAAGACGAGTCTGATGTGCTCTTGAAAAGCAAAGCAATGGGAGATAAAAGAAAAATACATGTGGAATCTGTCGTCACATGGAAATAAATCACGTGATAAGCTTTAACCGCTTTAGGAATGGGAATATTCTTGGCAACTTGGGAAACCACTATTTTTTTTTTTCAAGTTGTCTTTTTCCTCATCCCTTCCCAACAAAACAGCGCAAAAAATGAAGAGCCTTAAAGTTGTCTGGACATTTCTTCTCACCCGCTCATAAAGTGCAACATTTATTTTAAAAGTTCTAATGTACTTTTAAGGAATGAATTTAAAAATGCCCTTTTTCTGTGGAAAGTGTCTTTGAATTTTATTTCTTGCACTAACACTTTCTTTTGTAACTATAACGTGAACGCATCCCTTCTATCCAGACCGTCACTACAAAGTTGCTCTGGAAATTTGAATTTAAAATCTTAACTTTTCTACCTTTTTTGTCATTCCAAGTTTGTAAGATAAGATTTATTTAGGAACTAGGGTTGCTTTTATGGTTGTTTTTGCATTTATGGCTTTGTACTTTAAAAATAAATCTGCCTTAAAAAGTCTCTAATGCTTTGTTTTATAG
Seq C2 exon
ATATGGCAATCTAGATGGTGACCCAAAAGAAATCTCTCCAGTTATTGACCAGTTCATTGAGTGTGTTTGGCAGTTAATGGAACAATTTCCCTGTGCCTTTGAGTTCAATGAGAGGTTTTTGATTCACATTCAACATCACATTTATTCCTGCCAGTTTGGAAACTTCCTATGTAACAGCCAAAAGGAGAGACGAGAACTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987-MTMR7:NM_004686:10
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(4.7=100)
A:
NA
C2:
PF066029=Myotub-related=WD(100=97.6),PF153901=DUF4613=PU(17.0=69.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)