Special

HsaEX6064199 @ hg19

Exon Skipping

Gene
ENSG00000177239 | MAN1B1
Description
mannosidase, alpha, class 1B, member 1 [Source:HGNC Symbol;Acc:6823]
Coordinates
chr9:139995936-140001261:+
Coord C1 exon
chr9:139995936-139996124
Coord A exon
chr9:140000577-140000767
Coord C2 exon
chr9:140001141-140001261
Length
191 bp
Sequences
Splice sites
3' ss Seq
CATCCCCCTTTCTGCCGCAGGAG
3' ss Score
10.55
5' ss Seq
ACAGTGAGG
5' ss Score
3.44
Exon sequences
Seq C1 exon
GAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAG
Seq A exon
GAGGCAGTGGAGAAGGTGACACAGCACATCCACGGCCTGTCTGGGAAGAAGGATGGGCTGGTGCCCATGTTCATCAATACCCACAGTGGCCTCTTCACCCACCTGGGCGTATTCACGCTGGGCGCCAGGGCCGACAGCTACTATGAGTACCTGCTGAAGCAGTGGATCCAGGGCGGGAAGCAGGAGACACA
Seq C2 exon
GCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGGCACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCCAAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177239-'10-13,'10-12,12-13=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0153215=Glyco_hydro_47=FE(14.1=100)
A:
PF0153215=Glyco_hydro_47=FE(14.3=100)
C2:
PF0153215=Glyco_hydro_47=FE(10.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGCCTTCAGAACACCATCC
R:
ACAAAGGTGAGCTTACTGGGC
Band lengths:
249-440
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains