HsaINT0106308 @ hg38
Intron Retention
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17371037-17373240:-
Coord C1 exon
chr8:17373118-17373240
Coord A exon
chr8:17371200-17373117
Coord C2 exon
chr8:17371037-17371199
Length
1918 bp
Sequences
Splice sites
5' ss Seq
TGGGTATGC
5' ss Score
6.57
3' ss Seq
ACATTAACATTTGGTTCTAGATT
3' ss Score
7.19
Exon sequences
Seq C1 exon
GTTGAAAATGTCCGCTTGGTAGATCGAGTGTCTCCTAAAAAAGCAGCTCTAGGTACTTTGTATTTGACGGCTACCCATGTCATATTCGTGGAAAATTCACCTGACCCAAGAAAAGAAACATGG
Seq A exon
GTATGCTTTCTTTATTTTTAGCTTTCCTTGTTTTGCGTTGTTTGAAGCAAAAAGTGTTTGCCCTCCATTCATTTTTCCTCAGGGTGAGATGGGTGGGCTTTTGTGCCTGGATGTTGGGGAACTGTTTCTGGAATGTGTGTTTGGACTTTTTCTGTGCAGTCGTATCTACTTGATCGACTATTCATTTTAAACATGAATTATTTGAACATCAGTGAAGAGAGACTTAGAACTAGCCAGAAGATACAAGTGCTTCCTGTCACAGCTGTCAAGGAGAGATTCAATAATGTCAGTAGGCCAGATTCAGCATTGTCATCCTCCAGTGCTCCATTTGCAATAGTCTCTATTTGCAGGGTCCTGTAATGCAGCCATTTGGTCATTTTATTACATTGCCTCTACTTTTCTGATAATTTTAAAAAGAAAGAAAATCTAGAGGAGCTTCATCATCAGGTATTTCTCCTACTTATTAATGAAACCATTAGATATTTGAACATCACTAAATAATAATAATTATTATTATTAATATTATTTTTGAGATGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGATGCGATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTCACGCGCCACCACGCCTGGCTGACTTTTTTGTGTTTTTAGTAGAGGCAGGGTTTCACTATGTTGTCCAGGCTGGCCTCAAACTCCTGACCTGACCTCAAGTGATCTGCCCACCTTGGCCTTCCAAAGTACTGGGATTACAGGCATGAGCCACCGTGTGTGGCCTTATTATTCTTTCAGCAACCCAATCATGACATCCCTGAATTGTAGATTTCCCTTTGCTGTATTTCGTGCACAGTGGTACATTTTTAGCAGAAGGTGGCAGGCACTTCTTAGTGGAGGGGAAACTTAAAGATTAAAATGCTGCTATTGAAGACTGAGCATAGACCCTCCTGTAACACCAGAGATGCACTTCAGTATGATTTCCTTTAAAGTTAATCTCCTCTTTAGAGAGTAGAATGATGGTTTTACCAGAGGCTGGGAGTGCAGAGGAGGGGGAGGGAATGAGGAGATATTGATTGAAGGGCACAAAGTTTCCAAAAGACAGGAGGAAAAGTCTGGAAATCTATTGCACAGCAAGGTGACCATACTCAATAGTAATGTATATTTCAAAATAATTATGAGAGTAAATTTCAAGGGTCTCACTGTAAAAAAAAAAAAAAAAAAAAAAAACTATAGGTAAGTGATGGCCATGCTCATTAGCTTGATTTAATCATTCCGTATGATGTACATATATCACAGCATCACACTGTAGCCCATAAATGTGTACAACTATGATTTGCAATAAAAATATTAATTTAAAAAATAAAAAGATAAAATAAATCCCTTCTTTTGCAGCCTGCCCGACCACCAACAGCTTAGAAAACAACAATCCCATGTTGATACAGAACTCGAACATTCCATGTGGAATTAAGGAGCATGGTGGCACCTCCCAGCGGAGCCATCTCTAACTTGTGTTGACTGCAGAAGTTTATTTTACTAACTTCTCATGACCTTATTTAATTTTAGCTATTAAGCGCATTCAATATTTGACTACCAAAATGTTTCCATACCTGGACTTGTGCAAATTTATATGCTGAATGGTTTACTTCAAAATAACTGTCCTGGATATCAGGAAGCTTGGTATTGAAAAATAAAATTATAAATTTAGGAAGTTGGTTCTTACCTGGAACATCTCAGTGCTTGTCATCTGAACGCAAGGGTTGAGCTAGCTGGAGGTTGGGGAGCGTTTCTTGTCTTTCTTTGAGCCACAAAGAAATGTTAGTCCTTGTCGTATTCATTAGTTATTTGTGCTTAGCTTATGCACATTAACATTTGGTTCTAG
Seq C2 exon
ATTCTTCACAGTCAGATTTCCACCATTGAGAAACAGGCAACAACCGCTACCGGATGCCCTCTGCTGATTCGCTGCAAGAACTTTCAGATAATACAGCTCATCATACCTCAGGAAAGAGATTGCCACGACGTGTACATCTCCCTGATACGCCTTGCAAGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987:ENST00000180173:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0289315=GRAM=PU(72.0=87.8)
A:
NA
C2:
PF0289315=GRAM=PD(24.0=21.8)
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:
GAAAATGTCCGCTTGGTAGATCG
R:
CTTGCAAGGCGTATCAGGGAG
Band lengths:
278-2196
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