HsaEX6064204 @ hg19
Exon Skipping
Gene
ENSG00000177239 | MAN1B1
Description
mannosidase, alpha, class 1B, member 1 [Source:HGNC Symbol;Acc:6823]
Coordinates
chr9:139983321-139992389:+
Coord C1 exon
chr9:139983321-139983457
Coord A exon
chr9:139990689-139990843
Coord C2 exon
chr9:139992280-139992389
Length
155 bp
Sequences
Splice sites
3' ss Seq
TGTGACCAATTTCTCTACAGAAG
3' ss Score
8.3
5' ss Seq
CAGGTACAG
5' ss Score
8.68
Exon sequences
Seq C1 exon
CTCTGGCTTTCAGGCTAGAGGAAGAGCAGAAGATGAGGCCAGAAATTGCTGGGTTAAAACCAGCAAATCCACCCGTCTTACCAGCTCCTCAGAAGGCGGACACCGACCCTGAGAACTTACCTGAGATTTCGTCACAG
Seq A exon
AAGACACAAAGACACATCCAGCGGGGACCACCTCACCTGCAGATTAGACCCCCAAGCCAAGACCTGAAGGATGGGACCCAGGAGGAGGCCACAAAAAGGCAAGAAGCCCCTGTGGATCCCCGCCCGGAAGGAGATCCGCAGAGGACAGTCATCAG
Seq C2 exon
CTGGAGGGGAGCGGTGATCGAGCCTGAGCAGGGCACCGAGCTCCCTTCAAGAAGAGCAGAAGTGCCCACCAAGCCTCCCCTGCCACCGGCCAGGACACAGGGCACACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177239-'3-5,'3-4,5-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.761 A=1.000 C2=0.947
Domain overlap (PFAM):
C1:
NO
A:
PF118073=DUF3328=FE(37.2=100)
C2:
PF118073=DUF3328=PD(14.6=64.5)
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:
TCTGGCTTTCAGGCTAGAGGA
R:
CTGGTGTGCCCTGTGTCCT
Band lengths:
246-401
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)