HsaEX1024489 @ hg38
Exon Skipping
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
chr8:17371307-17371686
Coord C2 exon
chr8:17371037-17371199
Length
380 bp
Sequences
Splice sites
3' ss Seq
ATAAATCCCTTCTTTTGCAGCCT
3' ss Score
8.09
5' ss Seq
GAGGTTGGG
5' ss Score
2.53
Exon sequences
Seq C1 exon
GTTGAAAATGTCCGCTTGGTAGATCGAGTGTCTCCTAAAAAAGCAGCTCTAGGTACTTTGTATTTGACGGCTACCCATGTCATATTCGTGGAAAATTCACCTGACCCAAGAAAAGAAACATGG
Seq A exon
CCTGCCCGACCACCAACAGCTTAGAAAACAACAATCCCATGTTGATACAGAACTCGAACATTCCATGTGGAATTAAGGAGCATGGTGGCACCTCCCAGCGGAGCCATCTCTAACTTGTGTTGACTGCAGAAGTTTATTTTACTAACTTCTCATGACCTTATTTAATTTTAGCTATTAAGCGCATTCAATATTTGACTACCAAAATGTTTCCATACCTGGACTTGTGCAAATTTATATGCTGAATGGTTTACTTCAAAATAACTGTCCTGGATATCAGGAAGCTTGGTATTGAAAAATAAAATTATAAATTTAGGAAGTTGGTTCTTACCTGGAACATCTCAGTGCTTGTCATCTGAACGCAAGGGTTGAGCTAGCTGGAG
Seq C2 exon
ATTCTTCACAGTCAGATTTCCACCATTGAGAAACAGGCAACAACCGCTACCGGATGCCCTCTGCTGATTCGCTGCAAGAACTTTCAGATAATACAGCTCATCATACCTCAGGAAAGAGATTGCCACGACGTGTACATCTCCCTGATACGCCTTGCAAGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987_MULTIEX2-3/7=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=1.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0289315=GRAM=PU(72.0=87.8)
A:
NO
C2:
PF0289315=GRAM=PD(24.0=21.8)
Main Inclusion Isoform:
ENST00000180173fB20383
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAAATGTCCGCTTGGTAGATCG
R:
CTTGCAAGGCGTATCAGGGAG
Band lengths:
278-658
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains