Special

HsaEX0036463 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 6 [Source:HGNC Symbol;Acc:6698]
Coordinates
chr12:12333977-12340053:-
Coord C1 exon
chr12:12339857-12340053
Coord A exon
chr12:12336914-12337045
Coord C2 exon
chr12:12333977-12334373
Length
132 bp
Sequences
Splice sites
3' ss Seq
ATGTGATTTATATTTGACAGCCA
3' ss Score
4.54
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
GCAGGCAGTGGTTAAAGGTTCCCTTCCACATCCTTTTGCCTTGACGTTATTTGAGGACATATTGTACTGGACTGACTGGAGCACACACTCCATTTTGGCTTGCAACAAGTATACTGGTGAGGGTCTGCGTGAAATCCATTCTGACATCTTCTCTCCCATGGATATACATGCCTTCAGCCAACAGAGGCAGCCAAATG
Seq A exon
CCACAAATCCATGTGGAATTGACAATGGGGGTTGTTCCCATTTGTGTTTGATGTCTCCAGTCAAGCCTTTTTATCAGTGTGCTTGCCCCACTGGGGTCAAACTCCTGGAGAATGGAAAAACCTGCAAAGATG
Seq C2 exon
GTGCCACAGAATTATTGCTTTTAGCTCGAAGGACAGACTTGAGACGCATTTCTTTGGATACACCAGATTTTACAGACATTGTTCTGCAGTTAGAAGACATCCGTCATGCCATTGCCATAGATTACGATCCTGTGGAAGGCTACATCTACTGGACTGATGATGAAGTGAGGGCCATACGCCGTTCATTTATAGATGGATCTGGCAGTCAGTTTGTGGTCACTGCTCAAATTGCCCATCCTGATGGTATTGCTGTGGACTGGGTTGCACGAAATCTTTATTGGACAGACACTGGCACTGATCGAATAGAAGTGACAAGGCTCAATGGGACCATGAGGAAGATCTTGATTTCAGAGGACTTAGAGGAACCCCGGGCTATTGTGTTAGATCCCATGGTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018-'6-7,'6-6,7-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.014 A=0.044 C2=0.000
Domain overlap (PFAM):

C1:
PF0005812=Ldl_recept_b=PD(43.9=26.9),PF0005812=Ldl_recept_b=WD(100=40.3)
A:
PF146701=FXa_inhibition=WD(100=84.4)
C2:
PF0005812=Ldl_recept_b=WD(100=30.8),PF0005812=Ldl_recept_b=WD(100=30.8),PF0005812=Ldl_recept_b=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATGCCTTCAGCCAACAGAG
R:
GTGACCACAAACTGACTGCCA
Band lengths:
252-384
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