Special

HsaEX6016529 @ hg19

Exon Skipping

Gene
Description
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Coordinates
chr2:170131546-170137029:-
Coord C1 exon
chr2:170136860-170137029
Coord A exon
chr2:170135882-170136105
Coord C2 exon
chr2:170131546-170131748
Length
224 bp
Sequences
Splice sites
3' ss Seq
AATTTTGGTTTTTCTTTCAGGTT
3' ss Score
10.86
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
TTGGCGAGGCCTCCATTATCTTCTCCAATGGTCGGGATTTGTTAATTGGTGATATTCATGGAAGGAGCTTCCGGATCCTAGTGGAGTCTCAGAATCGTGGAGTGGCCGTGGGTGTGGCTTTCCACTATCACCTGCAAAGAGTTTTTTGGACAGACACCGTGCAAAATAAG
Seq A exon
GTTTTTTCAGTTGACATTAATGGTTTAAATATCCAAGAGGTTCTCAATGTTTCTGTTGAAACCCCAGAGAACCTGGCTGTGGACTGGGTTAATAATAAAATCTATCTAGTGGAAACCAAGGTCAACCGCATAGATATGGTAAATTTGGATGGAAGCTATCGGGTTACCCTTATAACTGAAAACTTGGGGCATCCTAGAGGAATTGCCGTGGACCCAACTGTTGG
Seq C2 exon
GAAGACTGTAGTTCATGGAGGCTCCCTCATTCCTCATCCCTTTGGAGTAAGCTTATTTGAAGGTCAGGTGTTCTTTACAGATTGGACAAAGATGGCCGTGCTGAAGGCAAACAAGTTCACAGAGACCAACCCACAAGTGTACTACCAGGCTTCCCTGAGGCCCTATGGAGTGACTGTTTACCATTCCCTCAGACAGCCCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'10-13,'10-10,11-13=AN
Average complexity
A_C3
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=PU(26.8=19.3)
A:
PF0005812=Ldl_recept_b=PD(68.3=37.3),PF0005812=Ldl_recept_b=WD(100=54.7),PF0005812=Ldl_recept_b=PU(0.1=0.0)
C2:
PF0005812=Ldl_recept_b=PD(46.5=29.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTCCGGATCCTAGTGGAGT
R:
TAGGGCTGTCTGAGGGAATGG
Band lengths:
305-529
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains