Special

HsaEX0036460 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 6 [Source:HGNC Symbol;Acc:6698]
Coordinates
chr12:12284755-12288234:-
Coord C1 exon
chr12:12288109-12288234
Coord A exon
chr12:12287671-12287813
Coord C2 exon
chr12:12284755-12284991
Length
143 bp
Sequences
Splice sites
3' ss Seq
CTTAACAGGATGACTTCCAGGTT
3' ss Score
0.65
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GACAGCACCCTTGTGCTCAGGATAATGGTGGCTGTTCACATATTTGTCTTGTAAAGGGGGATGGTACTACAAGGTGTTCTTGCCCCATGCACCTGGTTCTACTTCAAGATGAGCTATCATGTGGAG
Seq A exon
GTTCATCTGTGTTGTTGCAAATGACAGGATTTCCTACTTTTTTTGACTGAATAGTATTTCACTGCGTATATATTACCACACTTTTCAGCCTGTGAATGAGTATGCTTCCTAATATTAAAGTAGCCTCCCCCCTCTCCCAAAAG
Seq C2 exon
AACCTCCAACATGTTCTCCTCAGCAGTTTACTTGTTTCACGGGGGAAATTGACTGTATCCCTGTGGCTTGGCGGTGCGATGGGTTTACTGAATGTGAAGACCACAGTGATGAACTCAATTGTCCTGTATGCTCAGAGTCCCAGTTCCAGTGTGCCAGTGGGCAGTGTATTGATGGTGCCCTCCGATGCAATGGAGATGCAAACTGCCAGGACAAATCAGATGAGAAGAACTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018-'21-23,'21-22,22-23
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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=86.0),PF0005713=Ldl_recept_a=PU(10.8=9.3)
A:
NO
C2:
PF0005713=Ldl_recept_a=WD(100=48.8),PF0005713=Ldl_recept_a=WD(100=46.2),PF0005713=Ldl_recept_a=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCATGCACCTGGTTCTACT
R:
CATCTCCATTGCATCGGAGGG
Band lengths:
242-385
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development