HsaEX6016526 @ hg38
Exon Skipping
Gene
ENSG00000081479 | LRP2
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169282873-169290997:-
Coord C1 exon
chr2:169290845-169290997
Coord A exon
chr2:169289026-169289145
Coord C2 exon
chr2:169282873-169283001
Length
120 bp
Sequences
Splice sites
3' ss Seq
AAGTTCTTTTCTTCGTTTAGGTA
3' ss Score
7.51
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
AAAGCGGTCCTCATGATGTTCATAAATGTTCCCCAAGAGAATGGTCTTGCCCAGAGTCGGGACGATGCATCTCCATTTATAAAGTTTGTGATGGGATTTTAGATTGCCCAGGAAGAGAAGATGAAAACAACACTAGTACCGGAAAATACTGTA
Seq A exon
GTATGACTCTGTGCTCTGCCTTGAACTGCCAGTACCAGTGCCATGAGACGCCGTATGGAGGAGCGTGTTTTTGTCCCCCAGGTTATATCATCAACCACAATGACAGCCGTACCTGTGTTG
Seq C2 exon
AGTTTGATGATTGCCAGATATGGGGAATTTGTGACCAGAAGTGTGAAAGCCGACCTGGCCGTCACCTGTGCCACTGTGAAGAAGGGTATATCTTGGAGCGTGGACAGTATTGCAAAGCTAATGATTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'12-10,'12-9,13-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=84.6)
A:
PF126622=cEGF=PU(86.4=46.3)
C2:
PF126622=cEGF=PD(9.1=4.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTTCCCCAAGAGAATGGTCT
R:
TTGCAATACTGTCCACGCTCC
Band lengths:
242-362
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains