Special

HsaEX0034242 @ hg38

Exon Skipping

Gene
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175939552-175964423:-
Coord C1 exon
chr2:175964372-175964423
Coord A exon
chr2:175947480-175947692
Coord C2 exon
chr2:175939552-175939657
Length
213 bp
Sequences
Splice sites
3' ss Seq
TATGTACTTACTCTTCTCAGAGA
3' ss Score
6.92
5' ss Seq
TGGGTAAAC
5' ss Score
3.32
Exon sequences
Seq C1 exon
GAGTGTGAGCCGCCATCTGCTGGAGCAGCTGTAACTGCAAGACCTGGACAAG
Seq A exon
AGATTCGTCAGCGAACTGCAGCTCAAAGAAACCTTTCTCCAACACCAGCAAGCCCTAACCAGGGCCCTCCTCCACAAGTTCCAGTATCTCCTGGACCACCAAAGGACAGTTCTGCCCCTGGTGGACCCCCAGAAAGGACTGTTACTCCAGCCCTATCATCAAATGTGTTACCAAGACATCTTGGATCCCCTGCTACTTCAGTGCCTGGAATGG
Seq C2 exon
GTCTTCATCCTCCAGGTCCACCTTTAGCAAGACCTATTCTCCCCCGAGAACGAGGTGCTTTGGATAGAATTGTTGAATATTTGGTTGGTGATGGTCCACAAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320_MULTIEX1-11/12=10-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=1.000 C2=0.519
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF100584=DUF2296=PU(31.4=44.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTGTGAGCCGCCATCTG
R:
GTTTTGTGGACCATCACCAACC
Band lengths:
156-369
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