HsaEX6067283 @ hg38
Exon Skipping
Gene
ENSG00000123384 | LRP1
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57211927-57213351:+
Coord C1 exon
chr12:57211927-57212017
Coord A exon
chr12:57212117-57212261
Coord C2 exon
chr12:57212415-57213351
Length
145 bp
Sequences
Splice sites
3' ss Seq
ATACTCCTGCCTTTCCCCAGGGC
3' ss Score
10.37
5' ss Seq
AAGGTGGGC
5' ss Score
7.93
Exon sequences
Seq C1 exon
ATATAGCCTCCATCCTAATCCCTCTGCTGTTGCTGCTGCTGCTGGTTCTGGTGGCCGGAGTGGTATTCTGGTATAAGCGGCGAGTCCAAGG
Seq A exon
GGCTAAGGGCTTCCAGCACCAACGGATGACCAACGGGGCCATGAACGTGGAGATTGGAAACCCCACCTACAAGATGTACGAAGGCGGAGAGCCTGATGATGTGGGAGGCCTACTGGACGCTGACTTTGCCCTGGACCCTGACAAG
Seq C2 exon
CCCACCAACTTCACCAACCCCGTGTATGCCACACTCTACATGGGGGGCCATGGCAGTCGCCACTCCCTGGCCAGCACGGACGAGAAGCGAGAACTCCTGGGCCGGGGCCCTGAGGACGAGATAGGGGACCCCTTGGCATAGGGCCCTGCCCCGTCGGACTGCCCCCAGAAAGCCTCCTGCCCCCTGCCAGTGAAGTCCTTCAGTGAGCCCCTCCCCAGCCAGCCCTTCCCTGGCCCCGCCGGATGTATAAATGTAAAAATGAAGGAATTACATTTTATATGTGAGCGAGCAAGCCGGCAAGCGAGCACAGTATTATTTCTCCATCCCCTCCCTGCCTGCTCCTTGGCACCCCCATGCTGCCTTCAGGGAGACAGGCAGGGAGGGCTTGGGGCTGCACCTCCTACCCTCCCACCAGAACGCACCCCACTGGGAGAGCTGGTGGTGCAGCCTTCCCCTCCCTGTATAAGACACTTTGCCAAGGCTCTCCCCTCTCGCCCCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'160-180,'160-179,161-180=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.306 C2=0.522
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCGGAGTGGTATTCTGGTA
R:
CTGAAGGACTTCACTGGCAGG
Band lengths:
242-387
Functional annotations
There are 3 annotated functions for this event
PMID: 15115822
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, glutathione s tranferase tag, knock out, mutation analysis, pull down. ELM ID: ELMI001560; ELM sequence: EIGNPTYK; Overlap: FULL
PMID: 16382151
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, glutathione s tranferase tag, knock out, mutation analysis, pull down. ELM ID: ELMI001560; ELM sequence: EIGNPTYK; Overlap: FULL
PMID: 18381291
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, nuclear magnetic resonance. ELM ID: ELMI001543; ELM sequence: EIGNPTY; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains