HsaINT0106305 @ hg19
Intron Retention
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17161888-17163466:-
Coord C1 exon
chr8:17163266-17163466
Coord A exon
chr8:17162029-17163265
Coord C2 exon
chr8:17161888-17162028
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-MTMR7:NM_004686:11
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=0.014
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=WD(100=97.6),PF153901=DUF4613=PU(17.0=69.0)
A:
NA
C2:
PF153901=DUF4613=FE(27.5=100),PF061568=DUF972=PU(3.4=6.2),PF093326=Mcm10=PU(7.7=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
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)