Special

HsaEX6015724 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:141058883-141188583:-
Coord C1 exon
chr2:141188421-141188583
Coord A exon
chr2:141062051-141062273
Coord C2 exon
chr2:141058883-141059054
Length
223 bp
Sequences
Splice sites
3' ss Seq
ATTTAGTTTTCTTTCAACAGAAA
3' ss Score
7.06
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
Exon sequences
Seq C1 exon
ATGTGCAACAAATGGCGATTGACTGGCTCACTCGAAATCTCTATTTTGTGGACCATGTCGGTGACCGGATCTTTGTTTGTAATTCCAACGGTTCTGTATGTGTCACCCTGATTGATCTGGAGCTTCACAATCCTAAAGCAATAGCAGTAGATCCAATAGCAGG
Seq A exon
AAAACTTTTCTTTACTGACTACGGGAATGTCGCCAAAGTGGAGAGATGTGACATGGATGGGATGAACCGAACAAGGATAATTGATTCAAAGACAGAGCAGCCAGCTGCACTGGCACTAGACCTAGTCAACAAATTGGTTTACTGGGTAGATCTTTACTTGGACTATGTGGGAGTAGTGGACTATCAAGGAAAAAATAGACACACTGTCATTCAAGGCAGACAA
Seq C2 exon
GTTAGACATCTTTATGGTATAACTGTGTTTGAAGATTATTTGTATGCAACCAATTCTGATAACTACAATATCGTAAGGATAAACCGATTTAATGGGACTGATATTCACTCATTAATTAAAATTGAGAATGCTTGGGGAATCCGAATTTATCAAAAAAGAACTCAACCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'17-43,'17-41,21-43
Average complexity
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=WD(100=74.5),PF0005812=Ldl_recept_b=PU(0.1=0.0)
A:
PF0005812=Ldl_recept_b=WD(100=56.0),PF0005812=Ldl_recept_b=PU(71.4=40.0)
C2:
PF0005812=Ldl_recept_b=PD(23.8=17.2)


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
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAATGGCGATTGACTGGCT
R:
CGGATTCCCCAAGCATTCTCA
Band lengths:
299-522
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains