Special

HsaEX6015748 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 1B [Source:HGNC Symbol;Acc:6693]
Coordinates
chr2:141457819-141459861:-
Coord C1 exon
chr2:141459710-141459861
Coord A exon
chr2:141459290-141459414
Coord C2 exon
chr2:141457819-141458190
Length
125 bp
Sequences
Splice sites
3' ss Seq
TATGTTCAACTTTTTGGCAGAGC
3' ss Score
6.18
5' ss Seq
AAGGTCAGC
5' ss Score
7.09
Exon sequences
Seq C1 exon
GAAAATAAATTGTACTGGTGTGATGCTCGCACAGACAAGATAGAGAGAATCGACCTTGAGACTGGAGGGAATCGCGAGATGGTGCTGTCAGGAAGCAATGTGGATATGTTTTCAGTTGCAGTCTTTGGGGCTTACATCTACTGGTCTGACAG
Seq A exon
AGCACATGCAAACGGGTCTGTCAGAAGGGGCCACAAGAATGATGCCACAGAAACGATAACCATGAGAACCGGCCTTGGAGTCAACCTGAAGGAGGTTAAAATATTTAACCGAGTAAGAGAGAAAG
Seq C2 exon
GGACCAATGTTTGTGCCAGGGACAATGGTGGCTGTAAGCAACTCTGTCTTTATCGAGGAAATTCCCGGAGAACTTGTGCTTGTGCCCATGGATATTTGGCAGAAGATGGAGTTACTTGCCTGAGGCATGAAGGCTATTTACTGTATTCAGGAAGAACAATATTAAAAAGTATACATCTTTCTGATGAAACCAATTTAAATTCCCCAATAAGGCCATATGAGAATCCACGTTATTTCAAGAATGTCATAGCCTTGGCTTTTGACTATAATCAAAGAAGAAAAGGTACCAACCGAATCTTTTACAGTGATGCACACTTTGGAAATATACAGCTTATTAAAGACAACTGGGAAGACAGACAAGTAATTGTTGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'40-40,'40-39,41-40=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=0.000 A=0.163 C2=0.016
Domain overlap (PFAM):

C1:
PF0005812=Ldl_recept_b=WD(100=78.4)
A:
NO
C2:
PF146701=FXa_inhibition=WD(100=28.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGTACTGGTGTGATGCTCGC
R:
TGCCAAATATCCATGGGCACA
Band lengths:
244-369
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains