HsaEX1022177 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12120370-12124662:-
Coord C1 exon
chr12:12124565-12124662
Coord A exon
chr12:12121086-12121420
Coord C2 exon
chr12:12120370-12120403
Length
335 bp
Sequences
Splice sites
3' ss Seq
TTATTTTCTCCCTATACCAGCTA
3' ss Score
7.43
5' ss Seq
AATGTAAAT
5' ss Score
2.37
Exon sequences
Seq C1 exon
ATTTTGAACCCTCCACCATCCCCAGCCACAGAGCGATCACATTACACTATGGAATTTGGATATTCTTCAAACAGTCCTTCCACTCATAGGTCATACAG
Seq A exon
CTACAGGCCATATAGCTACCGGCACTTTGCACCCCCCACCACACCCTGCAGCACAGATGTTTGTGACAGTGACTATGCTCCTAGTCGGAGAATGACCTCAGTGGCAACAGCCAAGGGCTATACCAGTGACTTGAACTATGATTCAGAACCTGTGCCCCCACCTCCCACACCCCGAAGCCAATACTTGTCAGCAGAGGAGAACTATGAAAGCTGCCCACCTTCTCCATACACAGAGAGGAGCTATTCTCATCACCTCTACCCACCGCCACCCTCTCCCTGTACAGACTCCTCCTGAGGAGGGGCCCTCCTCCTCTGACTGCCTCCAACGTAAAAAT
Seq C2 exon
GTATGTTTACCTTGCTGCCTCCTCCAGCAACTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018_MULTIEX3-1/3=C1-3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.552 A=0.724 C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NA
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 4 annotated functions for this event
PMID: 14731402
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, mutation analysis, mutation disrupting interaction. ELM ID: ELMI002903; ELM sequence: PPTTPC; Overlap: FULL
PMID: 14731402
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, mutation analysis, mutation disrupting interaction. ELM ID: ELMI002904; ELM sequence: PPPTPR; Overlap: FULL
PMID: 14731402
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, mutation analysis, mutation disrupting interaction. ELM ID: ELMI002905; ELM sequence: CPPSPY; Overlap: FULL
PMID: 14731402
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, mutation analysis, mutation disrupting interaction. ELM ID: ELMI002906; ELM sequence: PPPSPC; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains