Special

HsaEX6015765 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 1B [Source:HGNC Symbol;Acc:6693]
Coordinates
chr2:141215032-141243093:-
Coord C1 exon
chr2:141242912-141243093
Coord A exon
chr2:141232707-141232906
Coord C2 exon
chr2:141215032-141215220
Length
200 bp
Sequences
Splice sites
3' ss Seq
GTATTGATTTTCTTTCCTAGATA
3' ss Score
9.39
5' ss Seq
AAGGTTGGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GTAGTTCATAACACAGCGGTCCCCAATGCACTTGCTGTCGATTGGATTGGAAAAAACCTCTATTGGTCTGACACAGAAAAAAGAATCATTGAAGTATCCAAACTCAATGGCTTGTACCCTACTATACTCGTTAGCAAAAGGCTGAAGTTTCCCAGAGACTTGTCTTTAGATCCTCAAGCTGG
Seq A exon
ATATTTGTATTGGATTGACTGCTGCGAGTATCCTCATATTGGCCGTGTTGGAATGGATGGAACCAATCAGAGTGTTGTCATAGAAACCAAGATTTCTAGACCTATGGCACTAACAATAGATTATGTTAATCGTAGACTCTACTGGGCCGATGAAAATCACATTGAATTTAGCAACATGGATGGATCTCATAGACACAAAG
Seq C2 exon
TCCCTAATCAAGATATTCCAGGGGTGATTGCACTAACATTGTTTGAAGACTACATCTACTGGACTGATGGGAAAACCAAGTCACTCAGCCGTGCCCATAAAACATCGGGAGCAGACAGACTCTCACTGATTTACTCATGGCATGCCATCACAGATATCCAGGTGTATCATTCTTATAGACAACCTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'60-60,'60-59,61-60=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=0.029 C2=0.000
Domain overlap (PFAM):

C1:
PF0005812=Ldl_recept_b=PD(33.3=23.0),PF0005812=Ldl_recept_b=WD(100=67.2),PF0005812=Ldl_recept_b=PU(0.1=0.0)
A:
PF0005812=Ldl_recept_b=WD(100=61.8)
C2:
NO


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:
GTTCATAACACAGCGGTCCCC
R:
TGCTCCCGATGTTTTATGGGC
Band lengths:
292-492
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains