HsaEX6016823 @ hg38
Exon Skipping
Gene
ENSG00000144320 | LNPK
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175947480-175970804:-
Coord C1 exon
chr2:175970764-175970804
Coord A exon
chr2:175964506-175964589
Coord C2 exon
chr2:175947480-175947692
Length
84 bp
Sequences
Splice sites
3' ss Seq
ATGGAAATTTTTGTTCGTAGCTT
3' ss Score
4.03
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
ATGAAGCATTGGATGATTTAAAATCCCAGAGGAAAAAAATA
Seq A exon
CTTGAAGAAGTCATGGAAAAAGAAACTTACAAGACGGCTAAATTAATTCTTGAAAGGTTTGATCCGGACTCAAAGAAAGCAAAG
Seq C2 exon
AGATTCGTCAGCGAACTGCAGCTCAAAGAAACCTTTCTCCAACACCAGCAAGCCCTAACCAGGGCCCTCCTCCACAAGTTCCAGTATCTCCTGGACCACCAAAGGACAGTTCTGCCCCTGGTGGACCCCCAGAAAGGACTGTTACTCCAGCCCTATCATCAAATGTGTTACCAAGACATCTTGGATCCCCTGCTACTTCAGTGCCTGGAATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320_MULTIEX1-9/12=7-11
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.122 A=0.432 C2=1.000
Domain overlap (PFAM):
C1:
PF083957=7tm_7=FE(9.4=100)
A:
PF083957=7tm_7=PD(14.4=71.4)
C2:
NO
Main Skipping Isoform:
ENST00000544803fB3685
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCATTGGATGATTTAAAATCCCAGA
R:
AACAGTCCTTTCTGGGGGTCC
Band lengths:
180-264
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains