Special

HsaEX6016564 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Coordinates
chr2:170038677-170044775:-
Coord C1 exon
chr2:170044480-170044775
Coord A exon
chr2:170042013-170042529
Coord C2 exon
chr2:170038677-170038829
Length
517 bp
Sequences
Splice sites
3' ss Seq
GAACTGCTTTTTACCTACAGGCA
3' ss Score
8.87
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GTGTGACCGGCACAATGACTGTGGTGACTATAGCGACGAGAGGGGCTGCTTATACCAGACTTGCCAACAGAATCAGTTTACCTGTCAGAACGGGCGCTGCATTAGTAAAACCTTCGTCTGTGATGAGGATAATGACTGTGGAGACGGATCTGATGAGCTGATGCACCTGTGCCACACCCCAGAACCCACGTGTCCACCTCACGAGTTCAAGTGTGACAATGGGCGCTGCATCGAGATGATGAAACTCTGCAACCACCTAGATGACTGTTTGGACAACAGCGATGAGAAAGGCTGTG
Seq A exon
GCATTAATGAATGCCATGACCCTTCAATCAGTGGCTGCGATCACAACTGCACAGACACCTTAACCAGTTTCTATTGTTCCTGTCGTCCTGGTTACAAGCTCATGTCTGACAAGCGGACTTGTGTTGATATTGATGAATGCACAGAGATGCCTTTTGTCTGTAGCCAGAAGTGTGAGAATGTAATAGGCTCCTACATCTGTAAGTGTGCCCCAGGCTACCTCCGAGAACCAGATGGAAAGACCTGCCGGCAAAACAGTAACATCGAACCCTATCTCATTTTTAGCAACCGTTACTATTTGAGAAATTTAACTATAGATGGCTATTTTTACTCCCTCATCTTGGAAGGACTGGACAATGTTGTGGCATTAGATTTTGACCGAGTAGAGAAGAGATTGTATTGGATTGATACACAGAGGCAAGTCATTGAGAGAATGTTTCTGAATAAGACAAACAAGGAGACAATCATAAACCACAGACTACCAGCTGCAGAAAGTCTGGCTGTAGACTGGGTTTCCAG
Seq C2 exon
AAAGCTCTACTGGTTGGATGCCCGCCTGGATGGCCTCTTTGTCTCTGACCTCAATGGTGGACACCGCCGCATGCTGGCCCAGCACTGTGTGGATGCCAACAACACCTTCTGCTTTGATAATCCCAGAGGACTTGCCCTTCACCCTCAATATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'50-51,'50-49,51-51=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:
PF0005713=Ldl_recept_a=PD(43.2=16.0),PF0005713=Ldl_recept_a=WD(100=39.0),PF0005713=Ldl_recept_a=WD(100=37.0)
A:
PF126622=cEGF=WD(100=13.9),PF146701=FXa_inhibition=WD(100=20.8),PF0005812=Ldl_recept_b=WD(100=23.7),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=94.2),PF0005812=Ldl_recept_b=PU(0.1=0.0)


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)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGGGCGCTGCATTAGTAAAA
R:
AAGGGCAAGTCCTCTGGGATT
Band lengths:
346-863
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains