HsaEX6079628 @ hg38
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17298030-17304519:-
Coord C1 exon
chr8:17304379-17304519
Coord A exon
chr8:17302154-17302280
Coord C2 exon
chr8:17298030-17300224
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-'50-48,'50-46,52-48
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.010 A=0.241 C2=0.908
Domain overlap (PFAM):
C1:
PF093326=Mcm10=PU(7.9=22.9)
A:
PF093326=Mcm10=FE(30.0=100)
C2:
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