Special

HsaEX0034241 @ hg38

Exon Skipping

Gene
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175947480-175964589:-
Coord C1 exon
chr2:175964506-175964589
Coord A exon
chr2:175964372-175964423
Coord C2 exon
chr2:175947480-175947692
Length
52 bp
Sequences
Splice sites
3' ss Seq
AACATTATTATAATTGACAGGAG
3' ss Score
2.66
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
CTTGAAGAAGTCATGGAAAAAGAAACTTACAAGACGGCTAAATTAATTCTTGAAAGGTTTGATCCGGACTCAAAGAAAGCAAAG
Seq A exon
GAGTGTGAGCCGCCATCTGCTGGAGCAGCTGTAACTGCAAGACCTGGACAAG
Seq C2 exon
AGATTCGTCAGCGAACTGCAGCTCAAAGAAACCTTTCTCCAACACCAGCAAGCCCTAACCAGGGCCCTCCTCCACAAGTTCCAGTATCTCCTGGACCACCAAAGGACAGTTCTGCCCCTGGTGGACCCCCAGAAAGGACTGTTACTCCAGCCCTATCATCAAATGTGTTACCAAGACATCTTGGATCCCCTGCTACTTCAGTGCCTGGAATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320_MULTIEX1-10/12=9-11
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.432 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF083957=7tm_7=PD(14.4=71.4)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATCCGGACTCAAAGAAAGCA
R:
GCAGAACTGTCCTTTGGTGGT
Band lengths:
140-192
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