Special

HsaEX6016567 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Coordinates
chr2:170032921-170038128:-
Coord C1 exon
chr2:170037958-170038128
Coord A exon
chr2:170034313-170034536
Coord C2 exon
chr2:170032921-170033098
Length
224 bp
Sequences
Splice sites
3' ss Seq
GTTTCTGCTTACTGCTGCAGGTA
3' ss Score
8.82
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
GTACCTCTACTGGGCAGACTGGGGTCACCGCGCATACATTGGGAGAGTAGGCATGGATGGAACCAACAAGTCTGTGATAATCTCCACCAAGTTAGAGTGGCCTAATGGCATCACCATTGATTACACCAATGATCTACTCTACTGGGCAGATGCCCACCTGGGTTACATAGA
Seq A exon
GTACTCTGATTTGGAGGGCCACCATCGACACACGGTGTATGATGGGGCACTGCCTCACCCTTTCGCTATTACCATTTTTGAAGACACTATTTATTGGACAGATTGGAATACAAGGACAGTGGAAAAGGGAAACAAATATGATGGATCAAATAGACAGACACTGGTGAACACAACACACAGACCATTTGACATCCATGTGTACCATCCATATAGGCAGCCCATTG
Seq C2 exon
TGAGCAATCCCTGTGGTACCAACAATGGTGGCTGTTCTCATCTCTGCCTCATCAAGCCAGGAGGAAAAGGGTTCACTTGCGAGTGTCCAGATGACTTCCGCACCCTTCAGCTGAGTGGCAGCACCTACTGCATGCCCATGTGCTCCAGCACCCAGTTCCTGTGCGCTAACAATGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'54-54,'54-53,56-54=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=0.039 C2=0.000
Domain overlap (PFAM):

C1:
PF0005812=Ldl_recept_b=WD(100=72.4),PF0005812=Ldl_recept_b=PU(31.7=22.4)
A:
PF0005812=Ldl_recept_b=PD(65.9=35.5),PF0005812=Ldl_recept_b=WD(100=53.9)
C2:
PF146701=FXa_inhibition=WD(100=66.7),PF0005713=Ldl_recept_a=PU(35.9=23.3)


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:
TGGGAGAGTAGGCATGGATGG
R:
TCATTGTTAGCGCACAGGAACT
Band lengths:
307-531
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains