HsaEX6064198 @ hg38
Exon Skipping
Gene
ENSG00000177239 | MAN1B1
Description
mannosidase alpha class 1B member 1 [Source:HGNC Symbol;Acc:HGNC:6823]
Coordinates
chr9:137088869-137108859:+
Coord C1 exon
chr9:137088869-137089005
Coord A exon
chr9:137106689-137106809
Coord C2 exon
chr9:137108829-137108859
Length
121 bp
Sequences
Splice sites
3' ss Seq
ATGACTGCTGGTGTCCACAGGCT
3' ss Score
8.64
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
CTCTGGCTTTCAGGCTAGAGGAAGAGCAGAAGATGAGGCCAGAAATTGCTGGGTTAAAACCAGCAAATCCACCCGTCTTACCAGCTCCTCAGAAGGCGGACACCGACCCTGAGAACTTACCTGAGATTTCGTCACAG
Seq A exon
GCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGGCACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCCAAGATG
Seq C2 exon
AAGACACGAATCATGACTCACGATTGCTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177239_MULTIEX1-7/9=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.739 A=0.000 C2=NA
Domain overlap (PFAM):
C1:
NO
A:
PF0153215=Glyco_hydro_47=FE(10.2=100)
C2:
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:
AGCAATCGTGAGTCATGATTCGT
Band lengths:
164-285
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains