Special

HsaEX6016539 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169240988-169243522:-
Coord C1 exon
chr2:169243403-169243522
Coord A exon
chr2:169242956-169243072
Coord C2 exon
chr2:169240988-169241365
Length
117 bp
Sequences
Splice sites
3' ss Seq
CTTTTCTCTTTCATTCTTAGTAT
3' ss Score
9.8
5' ss Seq
GTCGTAAGT
5' ss Score
9.9
Exon sequences
Seq C1 exon
ATTCGACAGAGACATGCCAACCTAGTCAGTTTAATTGCCCCAATCATCGATGTATTGACCTATCGTTTGTCTGTGATGGTGACAAGGATTGTGTTGATGGATCTGATGAGGTTGGTTGTG
Seq A exon
TATTAAACTGTACTGCTTCTCAATTCAAGTGTGCCAGTGGGGATAAATGTATTGGCGTCACAAATCGTTGTGATGGTGTTTTTGATTGCAGTGACAACTCGGATGAAGCAGGCTGTC
Seq C2 exon
CAACCAGGCCTCCTGGTATGTGCCACTCAGATGAATTTCAGTGCCAAGAAGATGGTATCTGCATCCCGAACTTCTGGGAATGTGATGGGCATCCAGACTGCCTCTATGGATCTGATGAGCACAATGCCTGTGTCCCCAAGACTTGCCCTTCATCATATTTCCACTGTGACAACGGAAACTGCATCCACAGGGCATGGCTCTGTGATCGGGACAATGACTGCGGGGATATGAGTGATGAGAAGGACTGCCCTACTCAGCCCTTTCGCTGTCCTAGTTGGCAATGGCAGTGTCTTGGCCATAACATCTGTGTGAATCTGAGTGTAGTGTGTGATGGCATCTTTGACTGCCCCAATGGGACAGATGAGTCCCCACTTTGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-'30-32,'30-31,31-32
Average complexity
S
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=90.2)
A:
PF0005713=Ldl_recept_a=WD(100=95.0)
C2:
PF0005713=Ldl_recept_a=WD(100=30.7),PF0005713=Ldl_recept_a=WD(100=29.1),PF0005713=Ldl_recept_a=PU(88.6=30.7)


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:
TTCGACAGAGACATGCCAACC
R:
ACAGGCATTGTGCTCATCAGA
Band lengths:
250-367
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains