Special

HsaEX6016544 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Coordinates
chr2:170088224-170092578:-
Coord C1 exon
chr2:170092350-170092578
Coord A exon
chr2:170089921-170090098
Coord C2 exon
chr2:170088224-170088352
Length
178 bp
Sequences
Splice sites
3' ss Seq
TGTTCTCTTCTGCCTCACAGATT
3' ss Score
10.42
5' ss Seq
ATTGTGAGT
5' ss Score
7.35
Exon sequences
Seq C1 exon
TGAGCATCTACTGTTCTGGTCTGACTGGGGCCACCACCCTCGCATCGAGCGAGCCAGCATGGACGGCAGCATGCGCACTGTCATTGTCCAGGACAAGATCTTCTGGCCCTGCGGCTTAACTATTGACTACCCCAACAGACTGCTCTACTTCATGGACTCCTATCTTGATTACATGGACTTTTGTGATTATAATGGACACCATCGGAGACAGGTGATAGCCAGTGATTTG
Seq A exon
ATTATACGGCACCCCTATGCCCTAACTCTCTTTGAAGACTCTGTGTACTGGACTGACCGTGCTACTCGTCGGGTTATGCGAGCCAACAAGTGGCATGGAGGGAACCAGTCAGTTGTAATGTATAATATTCAATGGCCCCTTGGGATTGTTGCGGTTCATCCTTCGAAACAACCAAATT
Seq C2 exon
CCGTGAATCCATGTGCCTTTTCCCGCTGCAGCCATCTCTGCCTGCTTTCCTCACAGGGGCCTCATTTTTACTCCTGTGTTTGTCCTTCAGGATGGAGTCTGTCTCCTGATCTCCTGAATTGCTTGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'30-30,'30-29,31-30=AN
Average complexity
A_S
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:
PF0005812=Ldl_recept_b=WD(100=54.5),PF0005812=Ldl_recept_b=PU(69.8=39.0)
A:
PF0005812=Ldl_recept_b=PD(25.6=18.3)
C2:
PF146701=FXa_inhibition=WD(100=90.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGTTCTGGTCTGACTGGGG
R:
GCGGGAAAAGGCACATGGATT
Band lengths:
246-424
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains