HsaEX6065211 @ hg38
Exon Skipping
Gene
ENSG00000070018 | LRP6
Description
LDL receptor related protein 6 [Source:HGNC Symbol;Acc:HGNC:6698]
Coordinates
chr12:12116025-12125432:-
Coord C1 exon
chr12:12125296-12125432
Coord A exon
chr12:12124565-12124662
Coord C2 exon
chr12:12116025-12121420
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-'49-69,'49-65,50-69=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.457 A=0.552 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
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