HsaEX6065211 @ hg19
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
low density lipoprotein receptor-related protein 6 [Source:HGNC Symbol;Acc:6698]
Coordinates
chr12:12268963-12278366:-
Coord C1 exon
chr12:12278230-12278366
Coord A exon
chr12:12277499-12277596
Coord C2 exon
chr12:12268963-12274354
Length
98 bp
Sequences
Splice sites
3' ss Seq
TAATTATTTTTTTCTTTTAGATT
3' ss Score
10.38
5' ss Seq
CAGGTAATA
5' ss Score
8.55
Exon sequences
Seq C1 exon
GAATGTCTCGAGGTAAATCAATGATCAGCTCCCTCAGTATCATGGGGGGAAGCAGTGGACCCCCCTATGACCGAGCCCATGTTACAGGAGCATCATCAAGTAGTTCTTCAAGCACCAAAGGCACTTACTTCCCTGCA
Seq A exon
ATTTTGAACCCTCCACCATCCCCAGCCACAGAGCGATCACATTACACTATGGAATTTGGATATTCTTCAAACAGTCCTTCCACTCATAGGTCATACAG
Seq C2 exon
CTACAGGCCATATAGCTACCGGCACTTTGCACCCCCCACCACACCCTGCAGCACAGATGTTTGTGACAGTGACTATGCTCCTAGTCGGAGAATGACCTCAGTGGCAACAGCCAAGGGCTATACCAGTGACTTGAACTATGATTCAGAACCTGTGCCCCCACCTCCCACACCCCGAAGCCAATACTTGTCAGCAGAGGAGAACTATGAAAGCTGCCCACCTTCTCCATACACAGAGAGGAGCTATTCTCATCACCTCTACCCACCGCCACCCTCTCCCTGTACAGACTCCTCCTGAGGAGGGGCCCTCCTCCTCTGACTGCCTCCAACGTAAAAATGTAAATATAAATTTGGTTGAGATCTGGAGGGGGGGAGGGAGCTATTAGAGAAGGATGAGGCAGACCATGTACAGTTAAAATTATAAAATGGGGTAGGGAATACTGGAGATATTTGTACAGAAGAAAAGGATATTTATATATTTTCTTAAAACAGCAGATTTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018-'26-29,'26-27,27-29=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=0.457 A=0.667 C2=0.724
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTCCCTCAGTATCATGGGG
R:
AAACATCTGTGCTGCAGGGTG
Band lengths:
173-271
Functional annotations
There are 1 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: ELMI002902; ELM sequence: PPPSPA; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)