Special

HsaEX0034248 @ hg38

Exon Skipping

Gene
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175979810-175995646:-
Coord C1 exon
chr2:175995558-175995646
Coord A exon
chr2:175993182-175993223
Coord C2 exon
chr2:175979810-175979868
Length
42 bp
Sequences
Splice sites
3' ss Seq
TGTTTCTGTTTGTATAACAGACA
3' ss Score
8.4
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
CTGTGAATTCCTTTGGACAATTGATGATATTTATCATTGTGCCCAGTTTCTACAAATAAAAGATGGGTGGATTATTTTCTCGATGGAGG
Seq A exon
ACAAAACCTTCAACTGTAGAAGTTCTAGAAAGTATAGATAAG
Seq C2 exon
CATCTGGAGCATAAGAACAGTAATTATTTTCTTCTTTTCCAAGAGAACAGAAAGAAATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320_MULTIEX1-3/12=1-5
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.010 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF083957=7tm_7=PU(5.0=77.8)
A:
PF083957=7tm_7=FE(9.4=100)
C2:
PF083957=7tm_7=FE(14.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTGAATTCCTTTGGACAATTGA
R:
TCTGTTCTCTTGGAAAAGAAGAAAA
Band lengths:
140-182
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development