Special

HsaEX0034243 @ hg38

Exon Skipping

Gene
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175923892-175938383:-
Coord C1 exon
chr2:175938313-175938383
Coord A exon
chr2:175937344-175937514
Coord C2 exon
chr2:175923892-175930199
Length
171 bp
Sequences
Splice sites
3' ss Seq
TTTTAAAAAATTCTCTGCAGCTT
3' ss Score
6.64
5' ss Seq
AAGGTATGA
5' ss Score
9.11
Exon sequences
Seq C1 exon
GTATGCACTTATATGTCAGCAGTGTTTTTCTCATAATGGCATGGCTTTGAAGGAAGAATTTGAATACATTG
Seq A exon
CTTTTCGATGTGCCTACTGTTTTTTCTTGAACCCTGCAAGAAAAACCAGACCTCAGGCTCCAAGACTTCCTGAGTTTAGTTTTGAGAAGAGGCAGGTGGTGGAAGGTTCAAGTTCAGTTGGTCCCTTGCCATCAGGAAGTGTGCTTTCATCAGACAACCAGTTTAATGAAG
Seq C2 exon
AATCTTTAGAACACGATGTTCTTGATGATAATACAGAGCAGACAGATGACAAAATACCAGCTACAGAACAGACAAACCAAGTGATTGAAAAAGCATCTGACTCAGAGGAACCAGAGGAGAAACAAGAGACTGAGAATGAGGAAGCCTCAGTGATTGAAACCAACTCCACAGTTCCTGGAGCTGATTCTATTCCTGATCCTGAACTAAGTGGAGAATCTTTGACGGCAGAGTAGTAAATGCTTCCACGTGCCTTCAACTGGATATTTATAGTCTTACTGATGTCAGTTATTGCTTTTTCGGTGGCACTTACTTTTTTTGCCCCTCTAAGGGTATGCTTGTGTATCATTTGAATTCAGATTGCCTAGCTATTTGAACATCTCAAAGTTATATATACTGGGTATTAAAATTAAAAGCAAGTTATATCAGTGAAGTAAGATCCTTTTGAATGTACAAAGACCCACACTATTGAGACAGCTTTTAGATACTTTTTTGTCCATTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320-'39-44,'39-36,42-44
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.519 C2=1.000
Domain overlap (PFAM):

C1:
PF100584=DUF2296=FE(47.1=100)
A:
PF100584=DUF2296=PD(19.6=17.2)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCATGGCTTTGAAGGAAGA
R:
TCTCCACTTAGTTCAGGATCAGGA
Band lengths:
249-420
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