Special

HsaEX6068687 @ hg19

Exon Skipping

Gene
Description
stabilin 2 [Source:HGNC Symbol;Acc:18629]
Coordinates
chr12:104144357-104149245:+
Coord C1 exon
chr12:104144357-104144498
Coord A exon
chr12:104146998-104147131
Coord C2 exon
chr12:104149080-104149245
Length
134 bp
Sequences
Splice sites
3' ss Seq
TCCTCCTCTTCCTCATCCAGATA
3' ss Score
10.15
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
GGCAAGCACAAGTGTGAGTGTAAAAGTCACTATGTCGGAGATGGGCTGAACTGTGAGCCGGAGCAGCTGCCCATTGACCGCTGCTTACAGGACAATGGGCAGTGCCATGCAGACGCCAAATGTGTCGACCTCCACTTCCAGG
Seq A exon
ATACCACTGTTGGGGTGTTCCATCTACGCTCCCCACTGGGCCAGTATAAGCTGACCTTTGACAAAGCCAGAGAGGCCTGTGCCAACGAAGCTGCGACCATGGCAACCTACAACCAGCTCTCCTATGCCCAGAAG
Seq C2 exon
GCCAAGTACCACCTGTGCTCAGCAGGCTGGCTGGAGACCGGGCGGGTTGCCTACCCCACAGCCTTCGCCTCCCAGAACTGTGGCTCTGGTGTGGTTGGGATAGTGGACTATGGACCTAGACCCAACAAGAGTGAAATGTGGGATGTCTTCTGCTATCGGATGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011-'59-60,'59-59,60-60=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF129472=EGF_3=PD(44.7=35.4)
A:
PF0019312=Xlink=PU(43.6=91.1)
C2:
PF0019312=Xlink=PD(54.3=91.1),PF129472=EGF_3=PU(32.0=14.3)


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:
ATGTCGGAGATGGGCTGAACT
R:
ACTCTTGTTGGGTCTAGGTCCA
Band lengths:
243-377
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains