HsaEX6067355 @ hg19
Exon Skipping
Gene
ENSG00000123384 | AC137834.1
Description
low density lipoprotein receptor-related protein 1 [Source:HGNC Symbol;Acc:6692]
Coordinates
chr12:57539010-57548484:+
Coord C1 exon
chr12:57539010-57539273
Coord A exon
chr12:57547991-57548153
Coord C2 exon
chr12:57548262-57548484
Length
163 bp
Sequences
Splice sites
3' ss Seq
CTTTCATTCGTACTCTCCAGACG
3' ss Score
8.48
5' ss Seq
GGGGTGAGA
5' ss Score
4.74
Exon sequences
Seq C1 exon
AGCCAGTAGACCGGCCCCCTGTGCTGTTGATAGCCAACTCCCAGAACATCTTGGCCACGTACCTGAGTGGGGCCCAGGTGTCTACCATCACACCTACGAGCACGCGGCAGACCACAGCCATGGACTTCAGCTATGCCAACGAGACCGTATGCTGGGTGCATGTTGGGGACAGTGCTGCTCAGACGCAGCTCAAGTGTGCCCGCATGCCTGGCCTAAAGGGCTTCGTGGATGAGCACACCATCAACATCTCCCTCAGTCTGCACC
Seq A exon
ACGTGGAACAGATGGCCATCGACTGGCTGACAGGCAACTTCTACTTTGTGGATGACATCGATGATAGGATCTTTGTCTGCAACAGAAATGGGGACACATGTGTCACATTGCTAGACCTGGAACTCTACAACCCCAAGGGCATTGCCCTGGACCCTGCCATGGG
Seq C2 exon
GAAGGTGTTTTTCACTGACTATGGGCAGATCCCAAAGGTGGAACGCTGTGACATGGATGGGCAGAACCGCACCAAGCTCGTCGACAGCAAGATTGTGTTTCCTCATGGCATCACGCTGGACCTGGTCAGCCGCCTTGTCTACTGGGCAGATGCCTATCTGGACTATATTGAAGTGGTGGACTATGAGGGCAAGGGCCGCCAGACCATCATCCAGGGCATCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'8-13,'8-12,12-13=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0005812=Ldl_recept_b=WD(100=74.5),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=WD(100=56.0),PF0005812=Ldl_recept_b=PU(71.4=40.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCACAGCCATGGACTTCAG
R:
ATCTTGCTGTCGACGAGCTTG
Band lengths:
248-411
Functional annotations
There are 0 annotated functions for this event
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)