Special

HsaEX6015727 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:141013556-141020102:-
Coord C1 exon
chr2:141019922-141020102
Coord A exon
chr2:141015696-141015915
Coord C2 exon
chr2:141013556-141013745
Length
220 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTTTTAATGTCTTAGTTG
3' ss Score
6.84
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
ATCTGGATAATGTAGAGGGCATTGCTGTGGACTGGATTGGAAATAATCTTTACTGGACCAATGATGGCCATAGGAAAACCATTAATGTGGCCAGGCTGGAAAAAGCTTCTCAGAGTCGGAAGACTCTTTTAGAGGGTGAAATGTCTCATCCCAGAGGAATTGTGGTGGATCCAGTTAATGG
Seq A exon
TTGGATGTATTGGACAGACTGGGAGGAAGATGAAATAGATGACAGCGTGGGAAGGATTGAGAAGGCCTGGATGGATGGATTCAATCGGCAGATTTTTGTGACTTCAAAGATGCTGTGGCCAAACGGTTTAACTCTGGACTTTCACACCAACACATTATACTGGTGTGATGCCTATTACGATCATATTGAAAAAGTATTTTTGAATGGGACTCACAGGAAG
Seq C2 exon
ATTGTTTACAGTGGGAGAGAGTTGAACCACCCTTTCGGACTGTCGCATCATGGAAATTATGTGTTCTGGACTGATTATATGAATGGTTCCATTTTTCAACTAGATTTGATAACAAGTGAGGTGACATTGCTGAGGCATGAAAGACCACCCCTATTTGGGCTTCAGATTTATGATCCACGAAAGCAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'26-50,'26-49,27-50=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0005812=Ldl_recept_b=PD(26.8=18.0),PF0005812=Ldl_recept_b=WD(100=72.1),PF0005812=Ldl_recept_b=PU(0.1=0.0)
A:
PF0005812=Ldl_recept_b=WD(100=64.9),PF0005812=Ldl_recept_b=PU(60.5=31.1)
C2:
PF0005812=Ldl_recept_b=PD(34.2=20.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTAGAGGGCATTGCTGTGGAC
R:
GCCTCAGCAATGTCACCTCAC
Band lengths:
306-526
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains