Special

HsaEX0034250 @ hg38

Exon Skipping

Gene
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175970764-175992418:-
Coord C1 exon
chr2:175992231-175992418
Coord A exon
chr2:175979810-175979868
Coord C2 exon
chr2:175970764-175970804
Length
59 bp
Sequences
Splice sites
3' ss Seq
GAATTTTGCTTCCCTTTTAGCAT
3' ss Score
8
5' ss Seq
ATAGTAAGT
5' ss Score
8.65
Exon sequences
Seq C1 exon
GAAATTCAAGCATTGGAAGAATTTAGGGAAAAAAATCAGAGATTACAAAAATTATGGGTTGGAAGATTAATTCTGTATTCCTCAGTTCTCTATCTGTTTACATGCTTAATTGTATATTTGTGGTATCTTCCTGATGAATTTACAGCAAGACTTGCCATGACACTCCCATTTTTTGCTTTTCCATTGAT
Seq A exon
CATCTGGAGCATAAGAACAGTAATTATTTTCTTCTTTTCCAAGAGAACAGAAAGAAATA
Seq C2 exon
ATGAAGCATTGGATGATTTAAAATCCCAGAGGAAAAAAATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320_MULTIEX1-5/12=4-7
Average complexity
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=0.122
Domain overlap (PFAM):

C1:
PF083957=7tm_7=FE(44.6=100)
A:
PF083957=7tm_7=FE(14.4=100)
C2:
PF083957=7tm_7=FE(9.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCAGTTCTCTATCTGTTTACATGC
R:
TCCTCTGGGATTTTAAATCATCCA
Band lengths:
142-201
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