Special

HsaEX6016533 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Coordinates
chr2:170113634-170129577:-
Coord C1 exon
chr2:170129437-170129577
Coord A exon
chr2:170115535-170115727
Coord C2 exon
chr2:170113634-170113759
Length
193 bp
Sequences
Splice sites
3' ss Seq
GTCCATATTTTAACTTATAGGAA
3' ss Score
7.92
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
Exon sequences
Seq C1 exon
CTACCAATCCGTGTAAAGATAACAATGGGGGCTGTGAGCAGGTCTGTGTCCTCAGCCACAGAACAGATAATGATGGTTTGGGTTTCCGTTGCAAGTGCACATTCGGCTTCCAACTGGATACAGATGAGCGCCACTGCATTG
Seq A exon
GAAGAGAAATTCTCGCAGCTAACAGGGTGGAAAATGTTGAAAGTTTGGCTTTTGATTGGATTTCAAAGAATCTCTATTGGACAGACTCTCATTACAAGAGTATCAGTGTCATGAGGCTAGCTGATAAAACGAGACGCACAGTAGTTCAGTATTTAAATAACCCACGGTCGGTGGTAGTTCATCCTTTTGCCGG
Seq C2 exon
GTATCTATTCTTCACTGATTGGTTCCGTCCTGCTAAAATTATGAGAGCATGGAGTGACGGATCTCACCTCTTGCCTGTAATAAACACTACTCTTGGATGGCCCAATGGCTTGGCCATCGATTGGGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'14-17,'14-16,17-17=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF146701=FXa_inhibition=WD(100=87.5)
A:
PF0005812=Ldl_recept_b=WD(100=61.5),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=97.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAATCCGTGTAAAGATAACAATGGG
R:
TGGGCCATCCAAGAGTAGTGT
Band lengths:
242-435
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains