Special

HsaEX0036465 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 6 [Source:HGNC Symbol;Acc:6698]
Coordinates
chr12:12318013-12334373:-
Coord C1 exon
chr12:12333977-12334373
Coord A exon
chr12:12332744-12332915
Coord C2 exon
chr12:12318013-12318229
Length
172 bp
Sequences
Splice sites
3' ss Seq
TTTTTTGTATACTTCTCTAGGTA
3' ss Score
10.46
5' ss Seq
GAGGTTTGT
5' ss Score
6.36
Exon sequences
Seq C1 exon
GTGCCACAGAATTATTGCTTTTAGCTCGAAGGACAGACTTGAGACGCATTTCTTTGGATACACCAGATTTTACAGACATTGTTCTGCAGTTAGAAGACATCCGTCATGCCATTGCCATAGATTACGATCCTGTGGAAGGCTACATCTACTGGACTGATGATGAAGTGAGGGCCATACGCCGTTCATTTATAGATGGATCTGGCAGTCAGTTTGTGGTCACTGCTCAAATTGCCCATCCTGATGGTATTGCTGTGGACTGGGTTGCACGAAATCTTTATTGGACAGACACTGGCACTGATCGAATAGAAGTGACAAGGCTCAATGGGACCATGAGGAAGATCTTGATTTCAGAGGACTTAGAGGAACCCCGGGCTATTGTGTTAGATCCCATGGTTGG
Seq A exon
GTACATGTATTGGACTGACTGGGGAGAAATTCCGAAAATTGAGCGAGCAGCTCTGGATGGTTCTGACCGTGTAGTATTGGTTAACACTTCTCTTGGTTGGCCAAATGGTTTAGCCTTGGATTATGATGAAGGCAAAATATACTGGGGAGATGCCAAAACAGACAAGATTGAG
Seq C2 exon
GTTATGAATACTGATGGCACTGGGAGACGAGTACTAGTGGAAGACAAAATTCCTCACATATTTGGATTTACTTTGTTGGGTGACTATGTTTACTGGACTGACTGGCAGAGGCGTAGCATTGAAAGAGTTCATAAACGAAGTGCAGAGAGGGAAGTGATCATAGATCAGCTGCCTGACCTCATGGGCCTAAAGGCTACAAATGTTCATCGAGTGATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018-'8-9,'8-8,9-9
Average complexity
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=30.8),PF0005812=Ldl_recept_b=WD(100=30.8),PF0005812=Ldl_recept_b=PU(0.1=0.0)
A:
PF0005812=Ldl_recept_b=WD(100=72.4),PF0005812=Ldl_recept_b=PU(33.3=22.4)
C2:
PF0005812=Ldl_recept_b=PD(61.5=32.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACTGGGTTGCACGAAATCT
R:
CCTCTGCCAGTCAGTCCAGTA
Band lengths:
255-427
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