Special

HsaEX1022161 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169201628-169202959:-
Coord C1 exon
chr2:169202756-169202959
Coord A exon
chr2:169201970-169201999
Coord C2 exon
chr2:169201628-169201870
Length
30 bp
Sequences
Splice sites
3' ss Seq
TTATCTCACTTTGCATGCAGTCC
3' ss Score
6.49
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GTCCAAATGGTGCCGAGTGCCAGTGTCCACATGAGGGCAACTGGTATTTGGCCAACAACAGGAAGCACTGCATTGTGGACAATGGTGAACGATGTGGTGCATCTTCCTTCACCTGCTCCAATGGGCGCTGCATCTCGGAAGAGTGGAAGTGTGATAATGACAACGACTGTGGGGATGGCAGTGATGAGATGGAAAGTGTCTGTG
Seq A exon
TCCATTTTGCAGCGTTTTTTGCCTTGGAAG
Seq C2 exon
CACTTCACACCTGCTCACCGACAGCCTTCACCTGTGCCAATGGGCGATGTGTCCAATACTCTTACCGCTGTGATTACTACAATGACTGTGGTGATGGCAGTGATGAGGCAGGGTGCCTGTTCAGGGACTGCAATGCCACCACGGAGTTTATGTGCAATAACAGAAGGTGCATACCTCGTGAGTTTATCTGCAATGGTGTAGACAACTGCCATGATAATAACACTTCAGATGAGAAAAATTGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'53-54,'53-53,54-54
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

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

C1:
PF146701=FXa_inhibition=PD(60.5=33.3),PF0005713=Ldl_recept_a=WD(100=56.5)
A:
NO
C2:
PF0005713=Ldl_recept_a=WD(100=45.1),PF0005713=Ldl_recept_a=WD(100=48.8)


Main Inclusion Isoform:
ENST00000263816fB19040


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATCTTCCTTCACCTGCTCC
R:
GTCGGTGAGCAGGTGTGAAG
Band lengths:
128-158
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains