HsaEX6064202 @ hg19
Exon Skipping
Gene
ENSG00000177239 | MAN1B1
Description
mannosidase, alpha, class 1B, member 1 [Source:HGNC Symbol;Acc:6823]
Coordinates
chr9:139992280-139995605:+
Coord C1 exon
chr9:139992280-139992389
Coord A exon
chr9:139994148-139994333
Coord C2 exon
chr9:139995457-139995605
Length
186 bp
Sequences
Splice sites
3' ss Seq
TGCTCTCTCCCCCCTACTAGTGC
3' ss Score
8.51
5' ss Seq
AAGGTACCT
5' ss Score
8.49
Exon sequences
Seq C1 exon
CTGGAGGGGAGCGGTGATCGAGCCTGAGCAGGGCACCGAGCTCCCTTCAAGAAGAGCAGAAGTGCCCACCAAGCCTCCCCTGCCACCGGCCAGGACACAGGGCACACCAG
Seq A exon
TGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAG
Seq C2 exon
AATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177239-'6-8,'6-7,8-8=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.947 A=0.016 C2=0.000
Domain overlap (PFAM):
C1:
PF118073=DUF3328=PD(14.6=64.5)
A:
PF0153215=Glyco_hydro_47=PU(11.4=79.4)
C2:
PF0153215=Glyco_hydro_47=FE(11.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCGGTGATCGAGCCTGAG
R:
CTCAGGAAGAGGCTGTCCCC
Band lengths:
244-430
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)