Special

HsaEX6067340 @ hg19

Exon Skipping

Gene
ENSG00000123384 | AC137834.1
Description
low density lipoprotein receptor-related protein 1 [Source:HGNC Symbol;Acc:6692]
Coordinates
chr12:57569243-57571028:+
Coord C1 exon
chr12:57569243-57569488
Coord A exon
chr12:57569692-57569889
Coord C2 exon
chr12:57570824-57571028
Length
198 bp
Sequences
Splice sites
3' ss Seq
TCACATCCCTCCCATCCCAGACC
3' ss Score
8.15
5' ss Seq
GAGGTGACC
5' ss Score
5.57
Exon sequences
Seq C1 exon
ACCAGTGCTCTCTGAATAACGGTGGCTGCAGCCACAACTGCTCAGTGGCACCTGGCGAAGGCATTGTGTGTTCCTGCCCTCTGGGCATGGAGCTGGGGCCCGACAACCACACCTGCCAGATCCAGAGCTACTGTGCCAAGCATCTCAAATGCAGCCAAAAGTGCGACCAGAACAAGTTCAGCGTGAAGTGCTCCTGCTACGAGGGCTGGGTCCTGGAACCTGACGGCGAGAGCTGCCGCAGCCTGG
Seq A exon
ACCCCTTCAAGCCGTTCATCATTTTCTCCAACCGCCATGAAATCCGGCGCATCGATCTTCACAAAGGAGACTACAGCGTCCTGGTGCCCGGCCTGCGCAACACCATCGCCCTGGACTTCCACCTCAGCCAGAGCGCCCTCTACTGGACCGACGTGGTGGAGGACAAGATCTACCGCGGGAAGCTGCTGGACAACGGAG
Seq C2 exon
CCCTGACTAGTTTCGAGGTGGTGATTCAGTATGGCCTGGCCACACCCGAGGGCCTGGCTGTAGACTGGATTGCAGGCAACATCTACTGGGTGGAGAGTAACCTGGATCAGATCGAGGTGGCCAAGCTGGATGGGACCCTCCGGACCACCCTGCTGGCCGGTGACATTGAGCACCCAAGGGCAATCGCACTGGATCCCCGGGATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'34-35,'34-34,35-35=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=0.000
Domain overlap (PFAM):

C1:
PF0005713=Ldl_recept_a=PD(4.7=2.4),PF146701=FXa_inhibition=WD(100=44.6),PF146701=FXa_inhibition=WD(100=41.0)
A:
PF0005812=Ldl_recept_b=PU(48.9=32.8)
C2:
PF0005812=Ldl_recept_b=PD(48.9=31.9),PF0005812=Ldl_recept_b=WD(100=59.4),PF0005812=Ldl_recept_b=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGTTCAGCGTGAAGTGCTCC
R:
GATTGCCCTTGGGTGCTCAAT
Band lengths:
258-456
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains