Special

HsaEX0034246 @ hg38

Exon Skipping

Gene
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175937344-175939657:-
Coord C1 exon
chr2:175939552-175939657
Coord A exon
chr2:175938313-175938383
Coord C2 exon
chr2:175937344-175937514
Length
71 bp
Sequences
Splice sites
3' ss Seq
CATTTTTCCTTACGGTGTAGGTA
3' ss Score
8.42
5' ss Seq
TTGGTAAGA
5' ss Score
8.85
Exon sequences
Seq C1 exon
GTCTTCATCCTCCAGGTCCACCTTTAGCAAGACCTATTCTCCCCCGAGAACGAGGTGCTTTGGATAGAATTGTTGAATATTTGGTTGGTGATGGTCCACAAAACAG
Seq A exon
GTATGCACTTATATGTCAGCAGTGTTTTTCTCATAATGGCATGGCTTTGAAGGAAGAATTTGAATACATTG
Seq C2 exon
CTTTTCGATGTGCCTACTGTTTTTTCTTGAACCCTGCAAGAAAAACCAGACCTCAGGCTCCAAGACTTCCTGAGTTTAGTTTTGAGAAGAGGCAGGTGGTGGAAGGTTCAAGTTCAGTTGGTCCCTTGCCATCAGGAAGTGTGCTTTCATCAGACAACCAGTTTAATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.519 A=0.000 C2=0.519
Domain overlap (PFAM):

C1:
PF100584=DUF2296=PU(31.4=44.4)
A:
PF100584=DUF2296=FE(47.1=100)
C2:
PF100584=DUF2296=PD(19.6=17.2)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTCATCCTCCAGGTCCACC
R:
AGTCTTGGAGCCTGAGGTCTG
Band lengths:
172-243
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