Special

HsaEX6051492 @ hg19

Exon Skipping

Gene
Description
ubiquitin-like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:12469]
Coordinates
chrX:47062037-47062613:+
Coord C1 exon
chrX:47062037-47062213
Coord A exon
chrX:47062342-47062446
Coord C2 exon
chrX:47062533-47062613
Length
105 bp
Sequences
Splice sites
3' ss Seq
CTCTCCCTTCCCCTCTCCAGGCC
3' ss Score
11.56
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
GAGGATGCAGCAGAACTGGTAGCCTTAGCACAGGCTGTGAATGCTCGAGCCCTGCCAGCAGTGCAGCAAAATAACCTGGACGAGGACCTCATCCGGAAGCTGGCATATGTGGCTGCTGGGGATCTGGCACCCATAAACGCCTTCATTGGGGGCCTGGCTGCCCAGGAAGTCATGAAG
Seq A exon
GCCTGCTCCGGGAAGTTCATGCCCATCATGCAGTGGCTATACTTTGATGCCCTTGAGTGTCTCCCTGAGGACAAAGAGGTCCTCACAGAGGACAAGTGCCTCCAG
Seq C2 exon
CGCCAGAACCGTTATGACGGGCAAGTGGCTGTGTTTGGCTCAGACCTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130985-'23-29,'23-28,24-29=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.034 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0089916=ThiF=PU(4.1=22.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGAACTGGTAGCCTTAGCA
R:
AGGAAATACTTCTGCTTGCCCA
Band lengths:
248-353
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains