HsaINT0106305 @ hg38
Intron Retention
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17304379-17305957:-
Coord C1 exon
chr8:17305757-17305957
Coord A exon
chr8:17304520-17305756
Coord C2 exon
chr8:17304379-17304519
Length
1237 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
3' ss Seq
ACTTATTTTCTTTATAACAGGAT
3' ss Score
9.27
Exon sequences
Seq C1 exon
ATATGGCAATCTAGATGGTGACCCAAAAGAAATCTCTCCAGTTATTGACCAGTTCATTGAGTGTGTTTGGCAGTTAATGGAACAATTTCCCTGTGCCTTTGAGTTCAATGAGAGGTTTTTGATTCACATTCAACATCACATTTATTCCTGCCAGTTTGGAAACTTCCTATGTAACAGCCAAAAGGAGAGACGAGAACTCAA
Seq A exon
GTAAGTGTTTTGGTGTTTTTGGTGTTTAACTTTTATTTAAAGATTTTGATGACTGAGAATTTTAGGTGGCCTTTCATAATTTTGAAGACTTTTTTCATTTAGTCACATACCTATACTGACAGATTAGTTTTATTTTCTTTTTCCTGGTGTCATTTCATAAATGGTTTAAATGTCATCAACTGACAGATAAATAGTTTCATTTTTTCCTTCAGTTTCTGCCTGATAGACAGCTTGACAGACTTGATGCATGAATATCGAAAGGGAATTTTCTGGAGTCAAAAAAGTGGTTTTTGCATTTAAAAGGAAAAGGTTAGATATATTTGGTGGCTATGCTACCATAATAAAAATTGCAAATTTAATTGGGAAAGCAAATATAAAAGCCAGAATTTATTCAGATTAAAACTGTATTGATTTATCCAAGGGTAAAAGTAGATAAATTGTGGACTTTAAAATAAGTGACAGTAAAAAACTTACAACAAAGTGATTTAGGCAGTATACATGAGAGAACATTTTTTAAATTTTCATAAAATGAAATGGTTTTAACTATGGTGTATACAACATTATCAGATTTAATTTGGGGAATGATCAGTTCAAATGAAATGGACTCATAAAGAAAATTAATTTTTGTAGTGGATACTAGTTTGTTTTCTCTAAGGAAGCTCAAGTGTGATTCCATGGAGATGGAGATGATTTAGAAGGAGCAGAGTGTATCCTTTAGGGTCACCTGTTTTCTTGTACCTGACTAGCCAATTCTAACAGTATCTGCTTGGGTCTGAATATGGCTTTTCCACTTACTAGCTATAGGACTTTGGGAAACCACTTATTCTCTCTATTCCTCAGTTTCTTCATCTGTAAATTAGACAGAGCTCACAGCAACTCAGTGAGGATTAAATGAGAGAAAACGTGGAACATTTAGAATAGTGTGTGACAAATTATAAATGTCCAATGACTATTTGGGGGAAAAAACTCCCCCCAAAAGAACAGCTTAACACACACACACACACACACACGAATCGAACACCTTGTCAAGGCCAGTACAGATGGTGGTGAAGTTGAGATTATTACAGTGTTCTCCCTCTATACCATGAAGTCACCAAGATGATACATTTACCTGCTATCGAACAGACACGTGGTTTTCAGGTAACAATTATTAGTTCCTTTCCAGCATTAATATAACATATCTACTGTGTGTAAGCACCAAAATAGGTCATTTATAGACTTATTTTCTTTATAACAG
Seq C2 exon
GATTCAAGAAAGAACATACTCATTATGGGCTCACCTGTGGAAGAATCGGGCCGACTACCTGAATCCTCTGTTTAGAGCTGATCACAGCCAGACTCAGGGAACCCTTCATCTCCCTACAACACCATGTAACTTCATGTACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987:ENST00000180173:11
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=0.010
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=PD(19.2=97.1)
A:
NA
C2:
PF093326=Mcm10=PU(7.9=22.9)
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:
TGGCAATCTAGATGGTGACCC
R:
CATGAAGTTACATGGTGTTGTAGGGA
Band lengths:
334-1571
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development