Special

HsaEX0036413 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140514653-140525993:-
Coord C1 exon
chr2:140525844-140525993
Coord A exon
chr2:140516889-140517011
Coord C2 exon
chr2:140514653-140514772
Length
123 bp
Sequences
Splice sites
3' ss Seq
CATTCCATATTTTATCACAGTTC
3' ss Score
5.44
5' ss Seq
GTGGTGAGA
5' ss Score
5.46
Exon sequences
Seq C1 exon
ATAACACAGACTGCACACATTTCTATAAGCTTGGAGTGAAAACCACAGGGTTCATAAGATGTAATTCTACCTCACTGTGTGTTCTGCCAACCTGGATATGCGACGGGTCTAATGACTGTGGAGACTATTCAGATGAATTAAAGTGCCCAG
Seq A exon
TTCAAAACAAACACAAATGTGAAGAAAATTATTTTAGTTGTCCTAGTGGAAGATGCATTTTGAATACCTGGATATGCGATGGTCAGAAAGATTGTGAGGATGGACGTGATGAATTCCACTGTG
Seq C2 exon
ATTCTTCTTGCTCTTGGAACCAATTTGCTTGTTCCGCACAAAAATGTATTTCTAAGCATTGGATTTGTGATGGAGAAGATGACTGTGGGGATGGGTTAGATGAAAGTGACAGCATTTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'77-109,'77-108,78-109
Average complexity
C2
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=0.000
Domain overlap (PFAM):

C1:
PF0005713=Ldl_recept_a=WD(100=68.6)
A:
PF0005713=Ldl_recept_a=WD(100=88.1)
C2:
PF0005713=Ldl_recept_a=WD(100=95.1)


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
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACAGACTGCACACATTTCT
R:
ACCCATCCCCACAGTCATCTT
Band lengths:
243-366
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development