Special

HsaEX6067357 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 1 [Source:HGNC Symbol;Acc:HGNC:6692]
Coordinates
chr12:57143679-57145490:+
Coord C1 exon
chr12:57143679-57143798
Coord A exon
chr12:57144972-57145100
Coord C2 exon
chr12:57145227-57145490
Length
129 bp
Sequences
Splice sites
3' ss Seq
TCTTGCCCTTTCCTCGGCAGATT
3' ss Score
11.29
5' ss Seq
ACGGTGGGT
5' ss Score
8.27
Exon sequences
Seq C1 exon
AGCTCCAAGGCAACTGCTCTCGCCTGGGCTGCCAGCACCATTGTGTCCCCACACTCGATGGGCCCACCTGCTACTGCAACAGCAGCTTTCAGCTTCAGGCAGATGGCAAGACCTGCAAAG
Seq A exon
ATTTTGATGAGTGCTCAGTGTACGGCACCTGCAGCCAGCTATGCACCAACACAGACGGCTCCTTCATATGTGGCTGTGTTGAAGGATACCTCCTGCAGCCGGATAACCGCTCCTGCAAGGCCAAGAACG
Seq C2 exon
AGCCAGTAGACCGGCCCCCTGTGCTGTTGATAGCCAACTCCCAGAACATCTTGGCCACGTACCTGAGTGGGGCCCAGGTGTCTACCATCACACCTACGAGCACGCGGCAGACCACAGCCATGGACTTCAGCTATGCCAACGAGACCGTATGCTGGGTGCATGTTGGGGACAGTGCTGCTCAGACGCAGCTCAAGTGTGCCCGCATGCCTGGCCTAAAGGGCTTCGTGGATGAGCACACCATCAACATCTCCCTCAGTCTGCACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123384-'14-9,'14-8,16-9=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.009
Domain overlap (PFAM):

C1:
PF146701=FXa_inhibition=PD(92.7=92.7)
A:
PF146701=FXa_inhibition=WD(100=79.5)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCAGCTTCAGGCAGATGGC
R:
CCCTTTAGGCCAGGCATGC
Band lengths:
254-383
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains