HsaEX6079628 @ hg19
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17155539-17162028:-
Coord C1 exon
chr8:17161888-17162028
Coord A exon
chr8:17159663-17159789
Coord C2 exon
chr8:17155539-17157733
Length
127 bp
Sequences
Splice sites
3' ss Seq
CGCTTTGCCATCCTTTCCAGGTT
3' ss Score
10.58
5' ss Seq
GAAGTAAGA
5' ss Score
6.42
Exon sequences
Seq C1 exon
GATTCAAGAAAGAACATACTCATTATGGGCTCACCTGTGGAAGAATCGGGCCGACTACCTGAATCCTCTGTTTAGAGCTGATCACAGCCAGACTCAGGGAACCCTTCATCTCCCTACAACACCATGTAACTTCATGTACAA
Seq A exon
GTTTTGGAGTGGAATGTATAACCGCTTTGAAAAGGGGATGCAGCCCCGACAGTCAGTTACAGATTACCTAATGGCAGTGAAGGAAGAAACTCAGCAGCTAGAGGAAGAACTAGAGGCCCTGGAAGAA
Seq C2 exon
AGGCTGGAAAAAATTCAAAAGGTCCAGTTAAATTGCACTAAGGTGAAGAGTAAGCAAAGTGAGCCCAGCAAGCACTCAGGGTTTTCTACCTCAGACAACAGCATAGCCAACACTCCCCAGGATTACAGTGGGAATATGAAATCATTTCCATCCCGGAGCCCTTCACAAGGCGATGAAGATTCTGCTCTGATTCTAACCCAAGACAATCTGAAAAGTTCAGATCCAGATCTGTCAGCCAACAGTGACCAAGAGTCCGGGGTGGAGGATTTGAGCTGTCGGTCTCCAAGTGGTGGTGAGCATGCACCGAGTGAAGATAGTGGCAAGGACCGGGATTCTGATGAAGCCGTGTTTCTCACTGCCTGAAGTTTCCCTTTGGAGTTCCAAAGTAAAGGACACATAAGCAACACTTCCAAAAACAAGGGAACAAGGTGGTTTATTGTAAAAACAGGAAATGGTGCATGTCATTGAGAACTACTTTAATGCAGCTATGAAAAGGGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987-'22-21,'22-20,24-21=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.014 A=0.285 C2=0.908
Domain overlap (PFAM):
C1:
PF153901=DUF4613=FE(27.5=100),PF061568=DUF972=PU(3.4=6.2),PF093326=Mcm10=PU(7.7=22.9)
A:
PF153901=DUF4613=FE(24.6=100),PF061568=DUF972=FE(48.3=100),PF093326=Mcm10=FE(29.6=100),PF039618=DUF342=PU(37.2=74.4)
C2:
PF061568=DUF972=PD(43.9=29.8),PF093326=Mcm10=PD(60.7=70.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCACCTGTGGAAGAATCGG
R:
CCCACTGTAATCCTGGGGAGT
Band lengths:
245-372
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)