Special

HsaEX6016556 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Coordinates
chr2:170059266-170062147:-
Coord C1 exon
chr2:170061989-170062147
Coord A exon
chr2:170060492-170060781
Coord C2 exon
chr2:170059266-170059469
Length
290 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTGCTTCATTTTAGGCA
3' ss Score
11.2
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
GTACCTGTACTGGGCTGACTGGGATACACATGCCAAAATCGAGAGAGCCACATTGGGAGGAAACTTCCGCGTACCCATTGTGAACAGCAGTCTGGTCATGCCCAGTGGGCTGACTCTGGACTATGAAGAGGACCTTCTCTACTGGGTGGATGCTAGTCT
Seq A exon
GCAGAGGATTGAACGCAGCACTCTGACGGGCGTGGATCGTGAAGTCATTGTCAATGCAGCCGTTCATGCTTTTGGCTTGACTCTCTATGGCCAGTATATTTACTGGACTGACTTGTACACACAAAGAATTTACCGAGCTAACAAATATGACGGGTCAGGTCAGATTGCAATGACCACAAATTTGCTCTCCCAGCCCAGGGGAATCAACACTGTTGTGAAGAACCAGAAACAACAGTGTAACAATCCTTGTGAACAGTTTAATGGGGGCTGCAGCCATATCTGTGCACCAG
Seq C2 exon
GTCCAAATGGTGCCGAGTGCCAGTGTCCACATGAGGGCAACTGGTATTTGGCCAACAACAGGAAGCACTGCATTGTGGACAATGGTGAACGATGTGGTGCATCTTCCTTCACCTGCTCCAATGGGCGCTGCATCTCGGAAGAGTGGAAGTGTGATAATGACAACGACTGTGGGGATGGCAGTGATGAGATGGAAAGTGTCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'42-42,'42-41,43-42=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=77.8),PF0005812=Ldl_recept_b=PU(23.1=16.7)
A:
PF0005812=Ldl_recept_b=PD(74.4=29.6),PF146701=FXa_inhibition=PU(36.8=14.3)
C2:
PF146701=FXa_inhibition=PD(60.5=33.3),PF0005713=Ldl_recept_a=WD(100=56.5)


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:
AGAGAGCCACATTGGGAGGAA
R:
ATCTCATCACTGCCATCCCCA
Band lengths:
308-598
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains