Special

HsaEX0001630 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57162317-57165945:+
Coord C1 exon
chr12:57162317-57162518
Coord A exon
chr12:57162858-57162983
Coord C2 exon
chr12:57165805-57165945
Length
126 bp
Sequences
Splice sites
3' ss Seq
CCCATGGCCCTTCCCCACAGTTG
3' ss Score
9.56
5' ss Seq
TGGGTATGA
5' ss Score
5.85
Exon sequences
Seq C1 exon
ATTGTGTATGAAGGTCCTGAGCTGAACCACGCCTTTGGCCTGTGTCACCATGGCAACTACCTCTTCTGGACTGAGTATCGGAGTGGCAGTGTCTACCGCTTGGAACGGGGTGTAGGAGGCGCACCCCCCACTGTGACCCTTCTGCGCAGTGAGCGGCCCCCCATCTTTGAGATCCGAATGTATGATGCCCAGCAGCAGCAAG
Seq A exon
TTGGCACCAACAAATGCCGGGTGAACAATGGCGGCTGCAGCAGCCTGTGCTTGGCCACCCCTGGGAGCCGCCAGTGCGCCTGTGCTGAGGACCAGGTGTTGGACGCAGACGGCGTCACTTGCTTGG
Seq C2 exon
CGAACCCATCCTACGTGCCTCCACCCCAGTGCCAGCCAGGCGAGTTTGCCTGTGCCAACAGCCGCTGCATCCAGGAGCGCTGGAAGTGTGACGGAGACAACGATTGCCTGGACAACAGTGATGAGGCCCCAGCCCTCTGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'35-33,'35-31,36-33
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.029 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF146701=FXa_inhibition=WD(100=83.7)
C2:
PF0005713=Ldl_recept_a=WD(100=81.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGTATCGGAGTGGCAGTGT
R:
CCTCATCACTGTTGTCCAGGC
Band lengths:
257-383
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