Special

HsaEX6068723 @ hg19

Exon Skipping

Gene
Description
stabilin 2 [Source:HGNC Symbol;Acc:18629]
Coordinates
chr12:104063319-104067865:+
Coord C1 exon
chr12:104063319-104063405
Coord A exon
chr12:104064474-104064585
Coord C2 exon
chr12:104067685-104067865
Length
112 bp
Sequences
Splice sites
3' ss Seq
GGCCCTGCCTTTGCTCCCAGTGT
3' ss Score
7.64
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
ATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAG
Seq A exon
TGTGCAGATAGCCTCGGCGGCAACGGGACATGCATTTGTGAGGAGGGCTTCCAAGGCTCCCAGTGTCAGTTCTGCTCTGATCCCAATAAATACGGACCTCGGTGTAACAAAA
Seq C2 exon
AATGCCTGTGCGTTCACGGAACATGCAATAACAGGATAGACAGCGATGGGGCCTGCCTCACTGGCACATGCAGAGACGGCTCTGCCGGGAGACTCTGTGATAAGCAGACCTCAGCCTGTGGGCCCTACGTGCAGTTCTGTCACATCCACGCCACCTGTGAATACAGCAATGGGACAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011-'20-21,'20-20,21-21=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0000822=EGF=PU(29.0=31.0)
A:
PF0000822=EGF=PD(64.5=52.6)
C2:
PF129472=EGF_3=PU(58.3=34.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAAGTGCTGCAAAGGCTTC
R:
GTATTCACAGGTGGCGTGGAT
Band lengths:
248-360
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains