Special

HsaEX6015748 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140700250-140702292:-
Coord C1 exon
chr2:140702141-140702292
Coord A exon
chr2:140701721-140701845
Coord C2 exon
chr2:140700250-140700621
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-'66-94,'66-93,67-94
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=0.163 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
Mouse
(mm9)
No conservation detected
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:
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