HsaEX0034239 @ hg38
Exon Skipping
Gene
ENSG00000144320 | LNPK
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175993182-176002345:-
Coord C1 exon
chr2:176002160-176002345
Coord A exon
chr2:175995558-175995646
Coord C2 exon
chr2:175993182-175993223
Length
89 bp
Sequences
Splice sites
3' ss Seq
AATACTTGCTTTATTTCTAGCTG
3' ss Score
7.26
5' ss Seq
AGGGTAAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
AGCGGCGCGCGCCGACCGCGGCGCCAATTGGCGAGCGGCTGGAGCGCGGGGTTTCATGGGAAGGAGTTGGCCCGGCTTGTCTCTCTGTCAGTGGCGGCTGCTGCCTGCTCTGGAGGCAGGCTGGGCGGTGGCGGCCGAGACTGGCGGGGGTGGACGCCCGGGCCGGGCTGCGCCCGCTTCTTGCAG
Seq A exon
CTGTGAATTCCTTTGGACAATTGATGATATTTATCATTGTGCCCAGTTTCTACAAATAAAAGATGGGTGGATTATTTTCTCGATGGAGG
Seq C2 exon
ACAAAACCTTCAACTGTAGAAGTTCTAGAAAGTATAGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320-'3-7,'3-5,8-7
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.010 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF083957=7tm_7=PU(5.0=77.8)
C2:
PF083957=7tm_7=FE(9.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGGGTTTCATGGGAAGGAGT
R:
TCTAGAACTTCTACAGTTGAAGGTT
Band lengths:
169-258
Functional annotations
There are 1 annotated functions for this event
PMID: 20213681
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: detection by mass spectrometry. ELM ID: ELMI002336; ELM sequence: MGGLFSR; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development