Special

HsaEX6016566 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Coordinates
chr2:170034313-170038829:-
Coord C1 exon
chr2:170038677-170038829
Coord A exon
chr2:170037958-170038128
Coord C2 exon
chr2:170034313-170034536
Length
171 bp
Sequences
Splice sites
3' ss Seq
CTTTGTGTTTGCCCTGACAGGTA
3' ss Score
11.72
5' ss Seq
AGAGTACGT
5' ss Score
6.58
Exon sequences
Seq C1 exon
AAAGCTCTACTGGTTGGATGCCCGCCTGGATGGCCTCTTTGTCTCTGACCTCAATGGTGGACACCGCCGCATGCTGGCCCAGCACTGTGTGGATGCCAACAACACCTTCTGCTTTGATAATCCCAGAGGACTTGCCCTTCACCCTCAATATGG
Seq A exon
GTACCTCTACTGGGCAGACTGGGGTCACCGCGCATACATTGGGAGAGTAGGCATGGATGGAACCAACAAGTCTGTGATAATCTCCACCAAGTTAGAGTGGCCTAATGGCATCACCATTGATTACACCAATGATCTACTCTACTGGGCAGATGCCCACCTGGGTTACATAGA
Seq C2 exon
GTACTCTGATTTGGAGGGCCACCATCGACACACGGTGTATGATGGGGCACTGCCTCACCCTTTCGCTATTACCATTTTTGAAGACACTATTTATTGGACAGATTGGAATACAAGGACAGTGGAAAAGGGAAACAAATATGATGGATCAAATAGACAGACACTGGTGAACACAACACACAGACCATTTGACATCCATGTGTACCATCCATATAGGCAGCCCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'53-53,'53-52,54-53=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.039
Domain overlap (PFAM):

C1:
PF0005812=Ldl_recept_b=WD(100=94.2),PF0005812=Ldl_recept_b=PU(0.1=0.0)
A:
PF0005812=Ldl_recept_b=WD(100=72.4),PF0005812=Ldl_recept_b=PU(31.7=22.4)
C2:
PF0005812=Ldl_recept_b=PD(65.9=35.5),PF0005812=Ldl_recept_b=WD(100=53.9)


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:
GACTTGCCCTTCACCCTCAAT
R:
TGGGCTGCCTATATGGATGGT
Band lengths:
246-417
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains